Harmonizome 3.0

neutrophil migration

acyloxyacyl hydrolase (neutrophil)

This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]

defensin, alpha 3, neutrophil-specific

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

elastase, neutrophil expressed

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]

neutrophil cytosolic factor 1C pseudogene

The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]

neutrophil cytosolic factor 1B pseudogene

Predicted to enable superoxide-generating NADPH oxidase activator activity. Predicted to be involved in respiratory burst and superoxide anion generation. Predicted to be part of NADPH oxidase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

neutrophil cytosolic factor 2

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

neutrophil cytosolic factor 1

The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]

neutrophil cytosolic factor 4, 40kDa

The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

acyloxyacyl hydrolase (neutrophil)

Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Mar 2025]

acyloxyacyl hydrolase (neutrophil)

Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Mar 2025]

RecQ mediated genome instability 2

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

DND microRNA-mediated repression inhibitor 1

This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]

SMG5 nonsense mediated mRNA decay factor

SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]

SMG9 nonsense mediated mRNA decay factor

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]

SMG7 nonsense mediated mRNA decay factor

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

SMG6 nonsense mediated mRNA decay factor

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

SMG8 nonsense mediated mRNA decay factor

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

hyaluronan-mediated motility receptor (RHAMM)

The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]

RecQ mediated genome instability 1

Predicted to enable nucleotide binding activity. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in nuclear body. Part of RecQ family helicase-topoisomerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

SMG5 nonsense mediated mRNA decay factor pseudogene

Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding)

piwi-like RNA-mediated gene silencing 4

PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]

piwi-like RNA-mediated gene silencing 3

This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

piwi-like RNA-mediated gene silencing 2

PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]

piwi-like RNA-mediated gene silencing 1

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PTGS2 antisense NFKB1 complex-mediated expression regulator RNA

This gene represents transcription of a long non-coding RNA produced in antisense to the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulators to promote expression of PTGS2. [provided by RefSeq, Feb 2015]

TBC1 domain family, member 9B (with GRAM domain)

Predicted to enable GTPase activator activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 4 pseudogene 1

GRAM domain containing 4 pseudogene 3

GRAM domain containing 4 pseudogene 2

GRAM domain containing 4 pseudogene 5

GRAM domain containing 4 pseudogene 7

GRAM domain containing 4 pseudogene 8

TBC1 domain family, member 8B (with GRAM domain)

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

GRAM domain containing 4 pseudogene 6

TBC1 domain family, member 8 (with GRAM domain)

Predicted to enable GTPase activator activity. Predicted to be involved in blood circulation and positive regulation of cell population proliferation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TBC1 domain family, member 9 (with GRAM domain)

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

GRAM domain containing 3

Enables identical protein binding activity. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 2

Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in endoplasmic reticulum-plasma membrane tethering and regulation of store-operated calcium entry. Located in endoplasmic reticulum membrane; organelle membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 4

GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]

GRAM domain containing 1C

Predicted to enable cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol and intracellular sterol transport. Predicted to be located in endoplasmic reticulum; membrane; and organelle membrane contact site. Predicted to be active in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 1B

Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol; cholesterol homeostasis; and intracellular sterol transport. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 1A

Predicted to enable cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol and intracellular sterol transport. Located in several cellular components, including cytosol; endoplasmic reticulum membrane; and organelle membrane contact site. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 2B

Enables identical protein binding activity. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

GRAM domain containing 2A

Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in endoplasmic reticulum-plasma membrane tethering and regulation of store-operated calcium entry. Located in endoplasmic reticulum membrane; organelle membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]