Harmonizome 3.0

signal transducer <strong>andstrong> activator of transcription 3 (acute-phase response factor)

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines <strong>andstrong> growth factors, STAT family members are phosphorylated by the receptor associated kinases, <strong>andstrong> then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines <strong>andstrong> growth factors including IFNs, EGF, IL5, IL6, HGF, LIF <strong>andstrong> BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, <strong>andstrong> thus plays a key role in many cellular processes such as cell growth <strong>andstrong> apoptosis. The small GTPase Rac1 has been shown to bind <strong>andstrong> regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral <strong>andstrong> bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease <strong>andstrong> hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 t<strong>andstrong>em leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase <strong>andstrong> interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

S-phase kinase-associated protein 1 pseudogene

M-phase specific PLK1 interacting protein

The protein encoded by this gene localizes to the centrosome during mitosis <strong>andstrong> to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis <strong>andstrong> subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis <strong>andstrong> cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]

S-phase kinase-associated protein 1 pseudogene 3

S-phase kinase-associated protein 1 pseudogene 2

S-phase kinase-associated protein 1

This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, <strong>andstrong> one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), <strong>andstrong> many specific SCF substrates have been identified including regulators of cell cycle progression <strong>andstrong> development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

S-phase kinase-associated protein 1 pseudogene 1

<strong>G2strong>/M-phase specific E3 ubiquitin protein ligase

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in apoptotic process <strong>andstrong> protein ubiquitination. Predicted to act upstream of or within blastocyst development; negative regulation of intrinsic apoptotic signaling pathway; <strong>andstrong> protein polyubiquitination. Located in Golgi apparatus <strong>andstrong> cytosol. [provided by Alliance of Genome Resources, Mar 2025]

S-phase cyclin A-associated protein in the ER

Predicted to enable nucleic acid binding activity <strong>andstrong> zinc ion binding activity. Acts upstream of or within retina development in camera-type eye. Located in cytosol <strong>andstrong> nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

S-phase kinase-associated protein 1 pseudogene

<strong>g2strong>/M phase-specific E3 ubiquitin-protein ligase-like

S-phase kinase-associated protein 1 pseudogene

M-phase phosphoprotein 9

Involved in negative regulation of cilium assembly. Located in Golgi apparatus; centriole; <strong>andstrong> centrosome. Implicated in multiple sclerosis. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 8

Enables chromatin binding activity; histone reader activity; <strong>andstrong> methylated histone binding activity. Involved in negative regulation of gene expression via chromosomal CpG isl<strong>andstrong> methylation <strong>andstrong> transposable element silencing by heterochromatin formation. Located in several cellular components, including cytosol; heterochromatin; <strong>andstrong> nuclear lumen. Part of nucleosome. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 6

Predicted to enable RNA binding activity. Involved in maturation of 5.8S rRNA. Located in cytosol <strong>andstrong> nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase <strong>andstrong> to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes <strong>andstrong> may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

M-phase phosphoprotein 6 pseudogene

S-phase response (cyclin related)

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

G1 to S phase transition pseudogene

G1 to S phase transition 2

This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]

G1 to S phase transition 1

Enables GTPase activity <strong>andstrong> translation release factor activity. Involved in regulation of translational termination <strong>andstrong> translational termination. Acts upstream of or within protein methylation. Part of translation release factor complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 8 pseudogene

S-phase cancer associated transcript 2

S-phase cancer associated transcript 8

mental retardation, epileptic seizures, hypogonadism <strong>andstrong> -genitalism, microcephaly <strong>andstrong> obesity syndrome

Microcephaly, mental retardation, <strong>andstrong> distinctive facies, with cardiac <strong>andstrong> genitourinary malformations

sema domain, seven thrombospondin repeats (type 1 <strong>andstrong> type 1-like), transmembrane domain (TM) <strong>andstrong> short cytoplasmic domain, (semaphorin) 5B

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, <strong>andstrong> five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved <strong>andstrong> exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

sema domain, seven thrombospondin repeats (type 1 <strong>andstrong> type 1-like), transmembrane domain (TM) <strong>andstrong> short cytoplasmic domain, (semaphorin) 5A

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain <strong>andstrong> several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

sema domain, seven thrombospondin repeats (type 1 <strong>andstrong> type 1-like), transmembrane domain (TM) <strong>andstrong> short cytoplasmic domain, (semaphorin) 5A pseudogene

RAB11 binding <strong>andstrong> LisH domain, coiled-coil <strong>andstrong> HEAT repeat containing

Involved in intracellular cholesterol transport. Located in recycling endosome <strong>andstrong> trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

inflammation <strong>andstrong> lipid regulator with UBA-like <strong>andstrong> NBR1-like domains

This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like <strong>andstrong> central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral <strong>andstrong> proinflammatory cytokine transcription <strong>andstrong> as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]

VAMP (vesicle-associated membrane protein)-associated protein B <strong>andstrong> C

The protein encoded by this gene is a type IV membrane protein found in plasma <strong>andstrong> intracellular vesicle membranes. The encoded protein is found as a homodimer <strong>andstrong> as a heterodimer with VAPA. This protein also can interact with VAMP1 <strong>andstrong> VAMP2 <strong>andstrong> may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

STIP1 homology <strong>andstrong> U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

cysteine <strong>andstrong> glycine-rich protein 3 (cardiac LIM protein)

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development <strong>andstrong> cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, <strong>andstrong> somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) <strong>andstrong> dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

STIP1 homology <strong>andstrong> U-box containing protein 1, E3 ubiquitin protein ligase

This gene encodes a protein containing tetratricopeptide repeat <strong>andstrong> a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to <strong>andstrong> ubiquitinates shock cognate 71 kDa protein (Hspa8) <strong>andstrong> DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

alpha- <strong>andstrong> gamma-adaptin binding protein

The protein encoded by this gene interacts with the gamma-adaptin <strong>andstrong> alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

F-box <strong>andstrong> leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 <strong>andstrong> regulate its ubiquitination <strong>andstrong> degradation. This protein has been linked to the regulation of pulmonary inflammation <strong>andstrong> psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

marginal zone B <strong>andstrong> B1 cell-specific protein

Involved in positive regulation of cell population proliferation. Located in cytoplasm <strong>andstrong> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

putative V-set <strong>andstrong> immunoglobulin domain-containing-like protein IGHV4OR15-8

cell cycle exit <strong>andstrong> neuronal differentiation protein 1-like

oligodendrocytic myelin paranodal <strong>andstrong> inner loop protein

Predicted to be involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

cysteine <strong>andstrong> glycine-rich protein 2 pseudogene

ring finger <strong>andstrong> WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1

cilia <strong>andstrong> flagella associated protein 126

Predicted to be involved in cilium organization <strong>andstrong> flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

ring finger <strong>andstrong> FYVE-like domain containing E3 ubiquitin protein ligase

Enables enzyme binding activity; p53 binding activity; <strong>andstrong> ubiquitin protein ligase activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; negative regulation of signal transduction; <strong>andstrong> protein K48-linked ubiquitination. Located in endosome membrane <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

HECT domain <strong>andstrong> ankyrin repeat containing E3 ubiquitin protein ligase 1

This gene encodes a HECT domain <strong>andstrong> ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor <strong>andstrong> is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

cilia <strong>andstrong> flagella associated protein 69

Acts upstream of or within sperm axoneme assembly. Located in cytoplasm <strong>andstrong> sperm midpiece. Implicated in spermatogenic failure 24. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 61

Involved in sperm flagellum assembly. Predicted to be located in radial spoke stalk <strong>andstrong> sperm flagellum. Implicated in spermatogenic failure 84. [provided by Alliance of Genome Resources, Mar 2025]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 <strong>andstrong> Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol <strong>andstrong> binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal <strong>andstrong> gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 <strong>andstrong> a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 <strong>andstrong> 16. [provided by RefSeq, Mar 2012]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases <strong>andstrong> encodes a protein with a HECT domain <strong>andstrong> five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm <strong>andstrong> perinuclear region <strong>andstrong> functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain <strong>andstrong> at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, <strong>andstrong> the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain <strong>andstrong> at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, <strong>andstrong> the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

alanine <strong>andstrong> arginine rich domain containing protein

Predicted to act upstream of or within response to testosterone. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 69 pseudogene

cilia <strong>andstrong> flagella associated protein 47

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

cilia <strong>andstrong> flagella associated protein 44

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; <strong>andstrong> motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Mar 2025]

F-box <strong>andstrong> leucine-rich repeat protein 20

Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 21 (gene/pseudogene)

This locus represents a transcribed pseudogene that is related to genes encoding members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

F-box <strong>andstrong> leucine-rich repeat protein 22

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A <strong>andstrong> cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

PH domain <strong>andstrong> leucine rich repeat protein phosphatase 1

This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating <strong>andstrong> inactivating the serine/threonine kinase Akt, <strong>andstrong> functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity <strong>andstrong> type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]

ring finger <strong>andstrong> WD repeat domain 2, E3 ubiquitin protein ligase pseudogene

RAS guanyl releasing protein 2 (calcium <strong>andstrong> DAG-regulated)

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 t<strong>andstrong>em repeats of EF-h<strong>andstrong> calcium-binding motifs, <strong>andstrong> a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS <strong>andstrong> RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium <strong>andstrong> diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

RAS guanyl releasing protein 3 (calcium <strong>andstrong> DAG-regulated)

The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS <strong>andstrong> RAP1A. Defects in this gene have been associated with systemic lupus erythematosus <strong>andstrong> several cancers. [provided by RefSeq, Mar 2017]

RAS guanyl releasing protein 1 (calcium <strong>andstrong> DAG-regulated)

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade <strong>andstrong> regulates T-cells <strong>andstrong> B-cells development, homeostasis <strong>andstrong> differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

transmembrane protein with EGF-like <strong>andstrong> two follistatin-like domains 1

Enables receptor lig<strong>andstrong> inhibitor activity. Involved in negative regulation of viral entry into host cell. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane protein with EGF-like <strong>andstrong> two follistatin-like domains 2

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene <strong>andstrong> a tumor suppressor depending on the cellular context <strong>andstrong> may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant <strong>andstrong> ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

FERM <strong>andstrong> PDZ domain-containing protein 2-like

PAX3 <strong>andstrong> PAX7 binding protein 1

Predicted to enable DNA binding activity <strong>andstrong> histone methyltransferase binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myoblast proliferation <strong>andstrong> regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

Janus kinase <strong>andstrong> microtubule interacting protein 3

Predicted to enable kinase binding activity <strong>andstrong> microtubule binding activity. Predicted to be located in Golgi apparatus <strong>andstrong> membrane. [provided by Alliance of Genome Resources, Mar 2025]

janus kinase <strong>andstrong> microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo <strong>andstrong> by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

janus kinase <strong>andstrong> microtubule interacting protein 1

Enables GABA receptor binding activity <strong>andstrong> RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

regulator of chromosome condensation (RCC1) <strong>andstrong> BTB (POZ) domain containing protein 2 pseudogene 1

ubiquitin-like with PHD <strong>andstrong> ring finger domains 2, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), <strong>andstrong> together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- <strong>andstrong> ring-associated (SRA) domain, <strong>andstrong> a RING finger domain <strong>andstrong> several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]

zinc <strong>andstrong> ring finger 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger <strong>andstrong> a RING finger motif <strong>andstrong> is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, <strong>andstrong> in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

zinc <strong>andstrong> ring finger 2, E3 ubiquitin protein ligase

Enables ubiquitin protein ligase activity. Involved in positive regulation of autophagosome-lysosome fusion. Located in cytoplasmic vesicle membrane; nuclear lumen; <strong>andstrong> plasma membrane. Part of protein-containing complex. Is active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

checkpoint with forkhead <strong>andstrong> ring finger domains, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis <strong>andstrong>, therefore, may play a key role in cell cycle progression <strong>andstrong> tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, <strong>andstrong> a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

cilia <strong>andstrong> flagella associated protein 36

Located in ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

p53 <strong>andstrong> DNA damage-regulated protein 1 pseudogene

centriole, cilia <strong>andstrong> spindle-associated protein

Enables microtubule binding activity. Involved in mitotic spindle microtubule depolymerization <strong>andstrong> regulation of mitotic spindle assembly. Located in axon; ciliary transition zone; <strong>andstrong> cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

multiciliate differentiation <strong>andstrong> DNA synthesis associated cell cycle protein

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

WD repeat <strong>andstrong> HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains <strong>andstrong> a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins <strong>andstrong> may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing <strong>andstrong> cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription <strong>andstrong> replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

adaptor protein, phosphotyrosine interaction, PH domain <strong>andstrong> leucine zipper containing 1

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, <strong>andstrong> in the crosstalk between the adiponectin signalling <strong>andstrong> insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, <strong>andstrong> proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF <strong>andstrong> translocated to the nucleus. [provided by RefSeq, Jul 2008]

adaptor protein, phosphotyrosine interaction, PH domain <strong>andstrong> leucine zipper containing 2

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, <strong>andstrong> a C-terminal phosphotyrosine binding (PTB) domain, <strong>andstrong> they bind the Rab5 through the BAR domain. They are associated with endosomal membranes <strong>andstrong> can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling <strong>andstrong> deacetylase /methyl-CpG-binding protein 1 complex) <strong>andstrong> are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene <strong>andstrong> the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

F-box <strong>andstrong> leucine-rich repeat protein 3

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class <strong>andstrong>, in addition to an F-box, contains several t<strong>andstrong>em leucine-rich repeats <strong>andstrong> is localized in the nucleus. [provided by RefSeq, Jul 2008]

F-box <strong>andstrong> leucine-rich repeat protein 5

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class <strong>andstrong>, in addition to an F-box, contains several t<strong>andstrong>em leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]

cilia- <strong>andstrong> flagella-associated protein 54-like

extracellular matrix protein 2, female organ <strong>andstrong> adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

putative V-set <strong>andstrong> immunoglobulin domain-containing-like protein IGHV4OR15-8

centrosome <strong>andstrong> spindle pole associated protein 1

This gene encodes a centrosome <strong>andstrong> spindle pole associated protein. The encoded protein plays a role in cell-cycle progression <strong>andstrong> spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 <strong>andstrong> is required for cilia formation. Mutations in this gene result in primary cilia abnormalities <strong>andstrong> classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

HECT, C2 <strong>andstrong> WW domain containing E3 ubiquitin protein ligase 1

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in regulation of dendrite morphogenesis <strong>andstrong> ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

HECT, C2 <strong>andstrong> WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration <strong>andstrong> differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization <strong>andstrong> substrate recognition, <strong>andstrong> a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, <strong>andstrong> epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

RING finger <strong>andstrong> transmembrane domain-containing protein 1-like

PC4 <strong>andstrong> SFRS1 interacting protein 1 pseudogene 2

PC4 <strong>andstrong> SFRS1 interacting protein 1 pseudogene 1

cilia <strong>andstrong> flagella associated protein 221

Predicted to enable calmodulin binding activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; <strong>andstrong> sperm flagellum assembly. Predicted to be located in axoneme; glial cell projection; <strong>andstrong> manchette. Predicted to be active in 9+2 motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

arf-GAP with GTPase, ANK repeat <strong>andstrong> PH domain-containing protein 4

non-protein coding RNA, associated with MAP kinase pathway <strong>andstrong> growth arrest

junction mediating <strong>andstrong> regulatory protein, p53 cofactor

Enables microtubule binding activity. Involved in cellular response to starvation. Located in autophagosome membrane; cell leading edge; <strong>andstrong> cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

KN motif <strong>andstrong> ankyrin repeat domain-containing protein 1-like

disintegrin <strong>andstrong> metalloproteinase domain-containing protein 21-like

GPS, PLAT <strong>andstrong> transmembrane domain-containing protein FLJ00285-like

myosin VIIA <strong>andstrong> Rab interacting protein

Predicted to enable actin binding activity; myosin binding activity; <strong>andstrong> protein kinase A binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in several cellular components, including cytoplasmic vesicle; perinuclear region of cytoplasm; <strong>andstrong> photoreceptor outer segment. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

phospholipase A2 inhibitor <strong>andstrong> Ly6/PLAUR domain-containing protein-like

F-box <strong>andstrong> leucine-rich repeat protein 12 pseudogene

F-box <strong>andstrong> leucine-rich repeat protein 4

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions <strong>andstrong> binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 t<strong>andstrong>em leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

V-set <strong>andstrong> immunoglobulin domain-containing protein 10-like

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

growth arrest <strong>andstrong> DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 <strong>andstrong> regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

hydatidiform mole associated <strong>andstrong> imprinted (non-protein coding)

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG isl<strong>andstrong>, <strong>andstrong> is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, <strong>andstrong> failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

arf-GAP with GTPase, ANK repeat <strong>andstrong> PH domain-containing protein 5-like

FERM <strong>andstrong> PDZ domain-containing protein 2

WAS protein homolog associated with actin, golgi membranes <strong>andstrong> microtubules

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association <strong>andstrong> microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex <strong>andstrong> in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]

cilia <strong>andstrong> flagella associated protein 58

Involved in protein localization to motile cilium; sperm axoneme assembly; <strong>andstrong> sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 57

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip <strong>andstrong> palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

cilia <strong>andstrong> flagella associated protein 53

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis <strong>andstrong> in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]

F-box <strong>andstrong> leucine-rich repeat protein 13

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 12

Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 15

Involved in several processes, including <strong>G2strong>/M transition of mitotic cell cycle; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; <strong>andstrong> positive regulation of BMP signaling pathway. Located in cytoplasm. Part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

F-box <strong>andstrong> leucine-rich repeat protein 17

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 16

Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), <strong>andstrong> F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

F-box <strong>andstrong> leucine-rich repeat protein 18

The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 <strong>andstrong> for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation <strong>andstrong> proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, <strong>andstrong> they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

cysteine <strong>andstrong> glycine-rich protein 2 pseudogene

proline, glutamate <strong>andstrong> leucine rich protein 1

This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes <strong>andstrong> corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ankyrin repeat <strong>andstrong> GTPase domain Arf GTPase activating protein 11

Predicted to enable GTPase activator activity <strong>andstrong> GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

F-box <strong>andstrong> WD repeat domain containing 7, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, <strong>andstrong> belongs to the Fbws class; in addition to an F-box, this protein contains 7 t<strong>andstrong>em WD40 repeats. This protein binds directly to cyclin E <strong>andstrong> probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian <strong>andstrong> breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

INTS3 <strong>andstrong> NABP interacting protein

The protein encoded by this gene is a subunit of single-str<strong>andstrong>ed DNA binding complexes that are important for maintaining genome stability. These complexes are involved in <strong>G2strong>/M checkpoint control <strong>andstrong> homologous recombination repair. [provided by RefSeq, Jul 2016]

hyaluronan <strong>andstrong> proteoglycan link protein 4

Predicted to be a structural constituent of synapse-associated extracellular matrix. Predicted to be involved in several processes, including GABAergic synaptic transmission; nervous system development; <strong>andstrong> positive regulation of neuroblast proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space; perineuronal net; <strong>andstrong> synapse. [provided by Alliance of Genome Resources, Mar 2025]

PC4 <strong>andstrong> SFRS1 interacting protein 1

Enables DNA-binding transcription factor binding activity; chromatin binding activity; <strong>andstrong> transcription coactivator activity. Involved in mRNA 5'-splice site recognition <strong>andstrong> positive regulation of transcription by RNA polymerase II. Located in heterochromatin; nuclear periphery; <strong>andstrong> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid binding protein 3, muscle <strong>andstrong> heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- <strong>andstrong> cardiac-type. They form 14-15 kDa proteins <strong>andstrong> are thought to participate in the uptake, intracellular metabolism <strong>andstrong>/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth <strong>andstrong> proliferation. Fatty acid-binding protein 3 gene contains four exons <strong>andstrong> its function is to arrest growth of mammary epithelial cells. This gene is a c<strong>andstrong>idate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

CCZ1 vacuolar protein trafficking <strong>andstrong> biogenesis associated homolog B (S. cerevisiae)

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025]

TRIO <strong>andstrong> F-actin-binding protein-like

cilia <strong>andstrong> flagella associated protein 97 pseudogene

cleft lip <strong>andstrong> palate associated transmembrane protein 1

Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 20

Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; <strong>andstrong> regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton <strong>andstrong> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

spindle <strong>andstrong> centriole associated protein 1

Involved in metaphase chromosome alignment; mitotic spindle assembly; <strong>andstrong> regulation of centriole replication. Located in centriole; centrosome; <strong>andstrong> spindle. [provided by Alliance of Genome Resources, Mar 2025]

ring finger <strong>andstrong> CHY zinc finger domain containing 1, E3 ubiquitin protein ligase

The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination <strong>andstrong> proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, <strong>andstrong> cyclin-dependent kinase inhibitor 1B, thus regulating their levels <strong>andstrong> cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]

dual serine/threonine <strong>andstrong> tyrosine protein kinase

This gene encodes a dual serine/threonine <strong>andstrong> tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

LIM <strong>andstrong> SH3 protein 1

This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif <strong>andstrong> a domain of Src homology region 3, <strong>andstrong> also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP <strong>andstrong> cGMP dependent signaling protein <strong>andstrong> binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, <strong>andstrong> colorectal cancer. [provided by RefSeq, Oct 2012]

disintegrin <strong>andstrong> metalloproteinase domain-containing protein 21-like

RING1 <strong>andstrong> YY1 binding protein

Enables nucleic acid binding activity. Involved in several processes, including negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of DNA-templated transcription; <strong>andstrong> positive regulation of apoptotic process. Located in nucleoplasm. Part of PcG protein complex. [provided by Alliance of Genome Resources, Mar 2025]

HECT, UBA <strong>andstrong> WWE domain containing 1, E3 ubiquitin protein ligase

This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination <strong>andstrong> subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, <strong>andstrong> DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]

migration <strong>andstrong> invasion inhibitory protein

This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 <strong>andstrong> may function as an inhibitor of cell migration <strong>andstrong> invasion. This protein also interacts with the cell division protein 20 <strong>andstrong> may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]

regulator of chromosome condensation (RCC1) <strong>andstrong> BTB (POZ) domain containing protein 2

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

regulator of chromosome condensation (RCC1) <strong>andstrong> BTB (POZ) domain containing protein 1

This gene encodes a protein with an N-terminal RCC1 domain <strong>andstrong> a C-terminal BTB (broad complex, tramtrack <strong>andstrong> bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia <strong>andstrong> other lymphoid malignancies. [provided by RefSeq, Jul 2008]

HECT <strong>andstrong> RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

F-box <strong>andstrong> leucine-rich repeat protein 8

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

F-box <strong>andstrong> leucine-rich repeat protein 2

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class <strong>andstrong>, in addition to an F-box, contains 12 t<strong>andstrong>em leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

F-box <strong>andstrong> leucine-rich repeat protein 7

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) <strong>andstrong> F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

F-box <strong>andstrong> leucine-rich repeat protein 6

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

aspartate, glycine, lysine <strong>andstrong> serine-rich protein-like

cysteine <strong>andstrong> glycine-rich protein 1

This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development <strong>andstrong> cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, <strong>andstrong> somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

cysteine <strong>andstrong> glycine-rich protein 2

CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development <strong>andstrong> cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, <strong>andstrong> may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 <strong>andstrong> CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

cilia <strong>andstrong> flagella associated protein 74

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; <strong>andstrong> sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 70

Predicted to be involved in cilium assembly <strong>andstrong> cilium movement. Predicted to act upstream of or within several processes, including maintenance of cell number; single fertilization; <strong>andstrong> spermatid development. Located in ciliary basal body <strong>andstrong> sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Mar 2025]

nucleolar <strong>andstrong> spindle associated protein 1

NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]

WAS protein homolog associated with actin, golgi membranes <strong>andstrong> microtubules pseudogene

blepharophimosis, epicanthus inversus <strong>andstrong> ptosis, c<strong>andstrong>idate 1 (non-protein coding)

fasciculation <strong>andstrong> elongation protein zeta 1 (zygin I)

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling <strong>andstrong> elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion <strong>andstrong> axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]

fasciculation <strong>andstrong> elongation protein zeta 2 (zygin II)

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling <strong>andstrong> elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]

GTPase activating protein <strong>andstrong> VPS9 domains 1

Enables GTPase activating protein binding activity <strong>andstrong> guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

aurora kinase A <strong>andstrong> ninein interacting protein

Enables damaged DNA binding activity. Involved in double-str<strong>andstrong> break repair via homologous recombination; negative regulation of double-str<strong>andstrong> break repair via nonhomologous end joining; <strong>andstrong> spindle organization. Located in centrosome; site of DNA damage; <strong>andstrong> spindle pole. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 99

Predicted to be located in motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

Kin17 DNA <strong>andstrong> RNA binding protein

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation <strong>andstrong> is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

multidrug <strong>andstrong> toxin extrusion protein 2-like

FERM, RhoGEF <strong>andstrong> pleckstrin domain protein 2

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction <strong>andstrong> neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

FERM, RhoGEF (ARHGEF) <strong>andstrong> pleckstrin domain protein 1 (chondrocyte-derived)

This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, <strong>andstrong> two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors <strong>andstrong> proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

CCZ1 vacuolar protein trafficking <strong>andstrong> biogenesis associated homolog (S. cerevisiae)

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025]

hyaluronan <strong>andstrong> proteoglycan link protein 1

Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; <strong>andstrong> skeletal system development. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

hyaluronan <strong>andstrong> proteoglycan link protein 3

This gene belongs to the hyaluronan <strong>andstrong> proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding <strong>andstrong> cell adhesion. [provided by RefSeq, Jul 2008]

hyaluronan <strong>andstrong> proteoglycan link protein 2

Predicted to enable hyaluronic acid binding activity. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; <strong>andstrong> skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier <strong>andstrong> extracellular matrix assembly. Predicted to be located in extracellular matrix. Predicted to be active in extracellular space; perineuronal net; <strong>andstrong> synapse. [provided by Alliance of Genome Resources, Mar 2025]

PH domain <strong>andstrong> leucine rich repeat protein phosphatase 2

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in intracellular signal transduction. Located in several cellular components, including intercellular bridge; mitotic spindle; <strong>andstrong> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SLP adaptor <strong>andstrong> CSK interacting membrane protein

This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells <strong>andstrong> is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction <strong>andstrong> immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

cilia <strong>andstrong> flagella associated protein 46

Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 45

Enables AMP binding activity. Involved in establishment of left/right asymmetry <strong>andstrong> flagellated sperm motility. Located in 9+2 motile cilium; axonemal microtubule; <strong>andstrong> nucleoplasm. Implicated in visceral heterotaxy. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 43

This gene encodes a member of the cilia- <strong>andstrong> flagella-associated protein family. [provided by RefSeq, Sep 2016]

ring finger <strong>andstrong> WD repeat domain 2, E3 ubiquitin protein ligase

Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; <strong>andstrong> response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 8

Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 9

Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 2

Predicted to enable identical protein binding activity <strong>andstrong> signaling receptor binding activity. Predicted to be involved in regulation of lipid metabolic process. Predicted to act upstream of or within positive regulation of D-glucose import; positive regulation of MAPK cascade; <strong>andstrong> positive regulation of small molecule metabolic process. Predicted to be located in extracellular space. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 3

Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; <strong>andstrong> regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome <strong>andstrong> membrane. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 1

Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; <strong>andstrong> positive regulation of cytosolic calcium ion concentration. Located in extracellular space <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 6

Enables identical protein binding activity. Predicted to be located in extracellular region <strong>andstrong> membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 7

Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 4

Predicted to enable cytokine activity. Involved in positive regulation of cytokine production <strong>andstrong> positive regulation of signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1q <strong>andstrong> tumor necrosis factor related protein 5

This gene encodes a member of a family of proteins that function as components of basement membranes <strong>andstrong> may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

IQ motif <strong>andstrong> ankyrin repeat domain-containing protein LOC642574

leucine rich repeat <strong>andstrong> coiled-coil centrosomal protein 1

This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome <strong>andstrong> plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain <strong>andstrong> a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle <strong>andstrong> accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]

putative V-set <strong>andstrong> immunoglobulin domain-containing-like protein IGHV4OR15-8

TRAFs <strong>andstrong> NIK-associated protein

protein kinase C <strong>andstrong> casein kinase substrate in neurons 1

Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

protein kinase C <strong>andstrong> casein kinase substrate in neurons 3

This gene is a member of the protein kinase C <strong>andstrong> casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

protein kinase C <strong>andstrong> casein kinase substrate in neurons 2

This gene is a member of the protein kinase C <strong>andstrong> casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

cilia <strong>andstrong> flagella associated protein 52

WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, <strong>andstrong> cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

TRIO <strong>andstrong> F-actin binding protein

This gene encodes a protein with an N-terminal pleckstrin homology domain <strong>andstrong> a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development <strong>andstrong> controlling actin cytoskeleton organization, cell motility <strong>andstrong> cell growth. The protein also associates with F-actin <strong>andstrong> stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

TAM41, mitochondrial translocator assembly <strong>andstrong> maintenance protein, homolog (S. cerevisiae)

Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process <strong>andstrong> cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of Genome Resources, Mar 2025]

disintegrin <strong>andstrong> metalloproteinase domain-containing protein 29-like

protein C (inactivator of coagulation factors Va <strong>andstrong> VIIIa)

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain <strong>andstrong> functions in degradation of the activated forms of coagulation factors V <strong>andstrong> VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, <strong>andstrong> recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

C1q <strong>andstrong> tumor necrosis factor related protein 9B

Predicted to enable hormone activity <strong>andstrong> identical protein binding activity. Predicted to act upstream of or within several processes, including negative regulation of cell size; positive regulation of cellular response to insulin stimulus; <strong>andstrong> positive regulation of protein serine/threonine kinase activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

WAS protein homolog associated with actin, golgi membranes <strong>andstrong> microtubules pseudogene 3

WAS protein homolog associated with actin, golgi membranes <strong>andstrong> microtubules pseudogene 2

WAS protein homolog associated with actin, golgi membranes <strong>andstrong> microtubules pseudogene 1

ankyrin repeat <strong>andstrong> SOCS box containing 11, E3 ubiquitin protein ligase

The protein encoded by this gene is a member of the ankyrin repeat <strong>andstrong> SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence <strong>andstrong> SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins <strong>andstrong> their binding partners with the elongin B <strong>andstrong> C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

cilia <strong>andstrong> flagella associated protein 97

Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Mar 2025]

disintegrin <strong>andstrong> metalloproteinase domain-containing protein 21-like

BRCA2 <strong>andstrong> CDKN1A interacting protein

This gene product was isolated on the basis of its interaction with BRCA2 <strong>andstrong> p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin <strong>andstrong> M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, <strong>andstrong> a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 <strong>andstrong> RAD51 nuclear focus formation, double-str<strong>andstrong> break-induced homologous recombination, <strong>andstrong> cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

RAS guanyl releasing protein 2 (calcium <strong>andstrong> DAG-regulated) pseudogene

PC4 <strong>andstrong> SFRS1 interacting protein 1 pseudogene

capping protein regulator <strong>andstrong> myosin 1 linker 1

Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; <strong>andstrong> positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; <strong>andstrong> nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

EARP complex <strong>andstrong> GARP complex interacting protein 1

This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, <strong>andstrong> lung, ovarian, <strong>andstrong> breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

cilia <strong>andstrong> flagella associated protein 251

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), <strong>andstrong> polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

capping protein regulator <strong>andstrong> myosin 1 linker 2

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with <strong>andstrong> negatively regulates the heterodimeric capping protein <strong>andstrong> promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors <strong>andstrong> impaired T-cell function. [provided by RefSeq, May 2017]

cilia <strong>andstrong> flagella associated protein 298

This gene encodes a protein that plays a critical role in dynein arm assembly <strong>andstrong> motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

cilia <strong>andstrong> flagella associated protein 65

The protein encoded by this gene has putative coiled-coil domains <strong>andstrong> may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology <strong>andstrong> defects in sperm motility. [provided by RefSeq, Aug 2016]

DERPC proline <strong>andstrong> glycine rich nuclear protein

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 410

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins <strong>andstrong> one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

elongin BC <strong>andstrong> polycomb repressive complex 2 associated protein

Predicted to enable chromatin binding activity. Predicted to be involved in neuron fate commitment; regulation of transcription by RNA polymerase II; <strong>andstrong> stem cell differentiation. Predicted to be located in chromosome <strong>andstrong> nucleus. Predicted to be part of ESC/E(Z) complex <strong>andstrong> elongin complex. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 418

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, <strong>andstrong> retina <strong>andstrong> the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) <strong>andstrong> retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

cilia <strong>andstrong> flagella associated protein 77

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

capping protein regulator <strong>andstrong> myosin 1 linker 3

Predicted to be involved in cell migration <strong>andstrong> regulation of Arp2/3 complex-mediated actin nucleation. Located in cytoplasm <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 119

Predicted to act upstream of or within gene expression; single fertilization; <strong>andstrong> sperm flagellum assembly. Predicted to be located in acrosomal vesicle <strong>andstrong> sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

trafficking regulator <strong>andstrong> scaffold protein tamalin

This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain <strong>andstrong> a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]

cilia <strong>andstrong> flagella associated protein 210

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 300

Predicted to be located in cytoplasm <strong>andstrong> motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Mar 2025]

nucleolus <strong>andstrong> neural progenitor protein

Predicted to be involved in negative regulation of neuron differentiation <strong>andstrong> positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 100

Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement <strong>andstrong> inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 157

Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded organelle; <strong>andstrong> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 141

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

F-box <strong>andstrong> leucine rich repeat protein, pseudogene

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, <strong>andstrong> Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class <strong>andstrong>, in addition to an F-box, contains 9 t<strong>andstrong>em leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

F-box <strong>andstrong> leucine rich repeat protein 21, pseudogene

This locus represents a transcribed pseudogene that is related to genes encoding members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

cilia <strong>andstrong> flagella associated protein 68

Predicted to be involved in flagellated sperm motility. Located in axoneme <strong>andstrong> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

cilia <strong>andstrong> flagella associated protein 91

Involved in axonemal central apparatus assembly <strong>andstrong> spermatogenesis. Predicted to be located in motile cilium <strong>andstrong> radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Mar 2025]