Name

SHD Gene

Src homology 2 domain containing transforming protein D

Predicted to enable phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Mar 2025]

FHOD1 Gene

formin homology 2 domain containing 1

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

FHOD3 Gene

formin homology 2 domain containing 3

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

LOC100422530 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOXHD1 Gene

lipoxygenase homology domains 1

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

PLEKHF1 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 1

Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in endosome organization; positive regulation of autophagy; and protein localization to plasma membrane. Located in endosome and lysosome. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHF2 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 2

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in endosome organization and endosome to lysosome transport. Located in transport vesicle. [provided by Alliance of Genome Resources, Mar 2025]

KHDC1 Gene

KH homology domain containing 1

Predicted to enable identical protein binding activity and poly(U) RNA binding activity. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHN1 Gene

pleckstrin homology domain containing, family N member 1

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]

LIMCH1 Gene

LIM and calponin homology domains 1

Enables myosin II head/neck binding activity. Involved in several processes, including cytoplasmic actin-based contraction involved in cell motility; positive regulation of stress fiber assembly; and regulation of focal adhesion assembly. Located in myosin II complex and stress fiber. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA3P1 Gene

pleckstrin homology domain containing, family A member 3 pseudogene 1

LOC105379197 Gene

pleckstrin homology domain-containing family A member 7-like

PHLDA1 Gene

pleckstrin homology-like domain, family A, member 1

This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]

PHLDA3 Gene

pleckstrin homology-like domain, family A, member 3

Enables phosphatidylinositol phosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PHLDA2 Gene

pleckstrin homology-like domain, family A, member 2

This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]

PLEKHS1 Gene

pleckstrin homology domain containing, family S member 1

PLEKHA8P1 Gene

pleckstrin homology domain containing, family A member 8 pseudogene 1

Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LOC100422519 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422513 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

SHC1P2 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2

SHC1P1 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1

PLEKHM1P Gene

pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene

SPECC1 Gene

sperm antigen with calponin homology and coiled-coil domains 1

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

KHDC1P1 Gene

KH homology domain containing 1 pseudogene 1

PLEKHH3 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 3

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

PLEKHH2 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

Predicted to enable actin binding activity. Predicted to be involved in negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHH1 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 1

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

LOC100422528 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422529 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422687 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 pseudogene

LOC100128022 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

RAPH1 Gene

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

PLEKHM1 Gene

pleckstrin homology domain containing, family M (with RUN domain) member 1

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM2 Gene

pleckstrin homology domain containing, family M (with RUN domain) member 2

This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]

PLEKHM3 Gene

pleckstrin homology domain containing, family M, member 3

Predicted to enable metal ion binding activity. Predicted to be involved in myoblast differentiation. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

SHB Gene

Src homology 2 domain containing adaptor protein B

Enables phosphotyrosine residue binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including hematopoietic stem cell proliferation; negative regulation of oocyte maturation; and positive regulation of immune response. Located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SHE Gene

Src homology 2 domain containing E

Predicted to enable phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Mar 2025]

SHF Gene

Src homology 2 domain containing F

Predicted to enable phosphotyrosine residue binding activity. Predicted to be involved in apoptotic process. [provided by Alliance of Genome Resources, Mar 2025]

TPTEP1 Gene

transmembrane phosphatase with tensin homology pseudogene 1

BACH2 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 2

Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Mar 2025]

BACH1 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 1

This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]

LOC100418862 Gene

sperm antigen with calponin homology and coiled-coil domains 1 pseudogene

PLEKHB1 Gene

pleckstrin homology domain containing, family B (evectins) member 1

Predicted to enable protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHB2 Gene

pleckstrin homology domain containing, family B (evectins) member 2

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in recycling endosome membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

SPECC1L Gene

sperm antigen with calponin homology and coiled-coil domains 1-like

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

LOC391465 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

LRCH4 Gene

leucine-rich repeats and calponin homology (CH) domain containing 4

This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]

LRCH1 Gene

leucine-rich repeats and calponin homology (CH) domain containing 1

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

LRCH2 Gene

leucine-rich repeats and calponin homology (CH) domain containing 2

This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

LRCH3 Gene

leucine-rich repeats and calponin homology (CH) domain containing 3

Involved in septin cytoskeleton organization. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHJ1 Gene

pleckstrin homology domain containing, family J member 1

Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and cytosol. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

SHC2 Gene

SHC (Src homology 2 domain containing) transforming protein 2

Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

UHMK1 Gene

U2AF homology motif (UHM) kinase 1

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

BAHD1 Gene

bromo adjacent homology domain containing 1

Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHG4B Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 4B

This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]

PLEKHG2 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 2

The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]

PLEKHG3 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

Enables actin binding activity. Involved in regulation of cell migration and regulation of establishment of cell polarity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHG1 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 1

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHG6 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 6

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHG7 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 7

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Rho protein signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHG4 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 4

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

PLEKHG5 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SHC1 Gene

SHC (Src homology 2 domain containing) transforming protein 1

This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

SHC3 Gene

SHC (Src homology 2 domain containing) transforming protein 3

Enables phosphotyrosine residue binding activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within glutamatergic synaptic transmission and learning or memory. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHO2 Gene

pleckstrin homology domain containing, family O member 2

Predicted to be involved in macrophage apoptotic process. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHO1 Gene

pleckstrin homology domain containing, family O member 1

Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in muscle cell projection membrane and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA4 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4

This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

PLEKHA5 Gene

pleckstrin homology domain containing, family A member 5

Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to act upstream of or within reproductive system development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA6 Gene

pleckstrin homology domain containing, family A member 6

PLEKHA7 Gene

pleckstrin homology domain containing, family A member 7

Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA1 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

TPTE Gene

transmembrane phosphatase with tensin homology

This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PLEKHD1 Gene

pleckstrin homology domain containing, family D (with coiled-coil domains) member 1

PHLDB1 Gene

pleckstrin homology-like domain, family B, member 1

Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in several cellular components, including basal cortex; cytosol; and intercellular bridge. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Mar 2025]

PHLDB2 Gene

pleckstrin homology-like domain, family B, member 2

Enables cadherin binding activity. Involved in several processes, including negative regulation of focal adhesion assembly; regulation of cytoskeleton organization; and regulation of embryonic development. Located in several cellular components, including basal cortex; cytoskeleton; and focal adhesion. [provided by Alliance of Genome Resources, Mar 2025]

PHLDB3 Gene

pleckstrin homology-like domain, family B, member 3

Enables enzyme binding activity. [provided by Alliance of Genome Resources, Mar 2025]

SHC4 Gene

SHC (Src homology 2 domain containing) family, member 4

Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within several processes, including apoptotic process; positive regulation of cell population proliferation; and stem cell differentiation. Predicted to be located in postsynaptic membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

KHDC1L Gene

KH homology domain containing 1-like

Predicted to enable RNA binding activity and identical protein binding activity. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA2 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2

Enables fibronectin binding activity; laminin binding activity; and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in positive regulation of cell-matrix adhesion. Located in cytoplasm and membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA3 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3

Enables identical protein binding activity and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

PLEKHA8 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8

Enables several functions, including ceramide binding activity; glycolipid transfer activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

STUB1 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and 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]

PHIP Gene

pleckstrin homology domain interacting protein

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

PLEKHM1P1 Gene

pleckstrin homology and RUN domain containing M1 pseudogene 1