psui3905/ncbi_genes_summary huggingface dataset:
APP, Official Symbol APPprovided by HGNC Official Full Name amyloid beta precursor proteinprovided by HGNC Primary source HGNC:HGNC:620 See related Ensembl:ENSG00000142192 MIM:104760; AllianceGenome:HGNC:620 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AAA; AD1; PN2; ABPP; APPI; CVAP; ABETA; PN-II; preA4; CTFgamma; alpha-sAPP Summary This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014] Expression Ubiquitous expression in brain (RPKM 395.2), kidney (RPKM 282.2) and 25 other tissues See more Orthologs mouse all
APP-DT, Official Symbol APP-DTprovided by HGNC Official Full Name APP divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55075 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
APPBP2, Official Symbol APPBP2provided by HGNC Official Full Name amyloid beta precursor protein binding protein 2provided by HGNC Primary source HGNC:HGNC:622 See related Ensembl:ENSG00000062725 MIM:605324; AllianceGenome:HGNC:622 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAT1; APP-BP2; HS.84084 Summary The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in testis (RPKM 16.4), brain (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
APPL1, Official Symbol APPL1provided by HGNC Official Full Name adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1provided by HGNC Primary source HGNC:HGNC:24035 See related Ensembl:ENSG00000157500 MIM:604299; AllianceGenome:HGNC:24035 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APPL; MODY14; DIP13alpha Summary The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 14.2), ovary (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
APPL2, Official Symbol APPL2provided by HGNC Official Full Name adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2provided by HGNC Primary source HGNC:HGNC:18242 See related Ensembl:ENSG00000136044 MIM:606231; AllianceGenome:HGNC:18242 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DIP13B Summary 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, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in colon (RPKM 10.8), small intestine (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
APRT, Official Symbol APRTprovided by HGNC Official Full Name adenine phosphoribosyltransferaseprovided by HGNC Primary source HGNC:HGNC:626 See related Ensembl:ENSG00000198931 MIM:102600; AllianceGenome:HGNC:626 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMP; APRTD Summary Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 38.8), appendix (RPKM 37.9) and 25 other tissues See more Orthologs mouse all
APTR, Official Symbol APTRprovided by HGNC Official Full Name Alu-mediated CDKN1A/p21 transcriptional regulatorprovided by HGNC Primary source HGNC:HGNC:44173 See related Ensembl:ENSG00000214293 MIM:616048; AllianceGenome:HGNC:44173 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RSBN1L-AS1 Expression Ubiquitous expression in thyroid (RPKM 5.3), testis (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
APTX, Official Symbol APTXprovided by HGNC Official Full Name aprataxinprovided by HGNC Primary source HGNC:HGNC:15984 See related Ensembl:ENSG00000137074 MIM:606350; AllianceGenome:HGNC:15984 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT Summary This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in kidney (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
AQP1, Official Symbol AQP1provided by HGNC Official Full Name aquaporin 1 (Colton blood group)provided by HGNC Primary source HGNC:HGNC:633 See related Ensembl:ENSG00000240583 MIM:107776; AllianceGenome:HGNC:633 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CO; CHIP28; AQP-CHIP Summary This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016] Expression Broad expression in kidney (RPKM 409.8), lung (RPKM 246.0) and 15 other tissues See more Orthologs mouse all
AQP10, Official Symbol AQP10provided by HGNC Official Full Name aquaporin 10provided by HGNC Primary source HGNC:HGNC:16029 See related Ensembl:ENSG00000143595 MIM:606578; AllianceGenome:HGNC:16029 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQPA_HUMAN Summary This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 31.0) and small intestine (RPKM 22.0) See more Orthologs all
AQP11, Official Symbol AQP11provided by HGNC Official Full Name aquaporin 11provided by HGNC Primary source HGNC:HGNC:19940 See related Ensembl:ENSG00000178301 MIM:609914; AllianceGenome:HGNC:19940 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQPX1 Summary Enables glycerol channel activity and water channel activity. Involved in several processes, including glycerol transport; hydrogen peroxide transmembrane transport; and protein homooligomerization. Located in cell surface; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 12.3), small intestine (RPKM 11.2) and 11 other tissues See more Orthologs mouse all
AQP12A, Official Symbol AQP12Aprovided by HGNC Official Full Name aquaporin 12Aprovided by HGNC Primary source HGNC:HGNC:19941 See related Ensembl:ENSG00000184945 MIM:609789; AllianceGenome:HGNC:19941 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQP12; AQPX2; AQP-12 Summary Predicted to enable channel activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward pancreas (RPKM 48.8) See more Orthologs all
AQP12B, Official Symbol AQP12Bprovided by HGNC Official Full Name aquaporin 12Bprovided by HGNC Primary source HGNC:HGNC:6096 See related Ensembl:ENSG00000185176 AllianceGenome:HGNC:6096 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as INSSA3 Summary Predicted to enable channel activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward pancreas (RPKM 28.6) See more Orthologs all
AQP2, Official Symbol AQP2provided by HGNC Official Full Name aquaporin 2provided by HGNC Primary source HGNC:HGNC:634 See related Ensembl:ENSG00000167580 MIM:107777; AllianceGenome:HGNC:634 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NDI2; AQP-CD; WCH-CD Summary This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] Expression Restricted expression toward kidney (RPKM 245.3) See more Orthologs mouse all
AQP3, Official Symbol AQP3provided by HGNC Official Full Name aquaporin 3 (Gill blood group)provided by HGNC Primary source HGNC:HGNC:636 See related Ensembl:ENSG00000165272 MIM:600170; AllianceGenome:HGNC:636 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GIL; AQP-3 Summary This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Biased expression in esophagus (RPKM 430.5), skin (RPKM 178.1) and 9 other tissues See more Orthologs mouse all
AQP4, Official Symbol AQP4provided by HGNC Official Full Name aquaporin 4provided by HGNC Primary source HGNC:HGNC:637 See related Ensembl:ENSG00000171885 MIM:600308; AllianceGenome:HGNC:637 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MIWC; MLC4; WCH4; hAQP4 Summary This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018] Expression Biased expression in brain (RPKM 248.2) and lung (RPKM 72.5) See more Orthologs mouse all
AQP4-AS1, Official Symbol AQP4-AS1provided by HGNC Official Full Name AQP4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26399 See related Ensembl:ENSG00000260372 AllianceGenome:HGNC:26399 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C18orf16; CHST9-AS1 Expression Biased expression in brain (RPKM 1.5), prostate (RPKM 0.1) and 2 other tissues See more
AQP5, Official Symbol AQP5provided by HGNC Official Full Name aquaporin 5provided by HGNC Primary source HGNC:HGNC:638 See related Ensembl:ENSG00000161798 MIM:600442; AllianceGenome:HGNC:638 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPKB; AQP-5 Summary Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 99.1), testis (RPKM 61.9) and 1 other tissue See more Orthologs mouse all
AQP6, Official Symbol AQP6provided by HGNC Official Full Name aquaporin 6provided by HGNC Primary source HGNC:HGNC:639 See related Ensembl:ENSG00000086159 MIM:601383; AllianceGenome:HGNC:639 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KID; AQP2L Summary The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 15.5), brain (RPKM 1.4) and 1 other tissue See more Orthologs mouse all
AQP7, Official Symbol AQP7provided by HGNC Official Full Name aquaporin 7provided by HGNC Primary source HGNC:HGNC:640 See related Ensembl:ENSG00000165269 MIM:602974; AllianceGenome:HGNC:640 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQP7L; AQPap; GLYCQTL Summary This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015] Expression Biased expression in fat (RPKM 81.2), heart (RPKM 10.9) and 3 other tissues See more Orthologs mouse all
AQP7P2, Official Symbol AQP7P2provided by HGNC Official Full Name aquaporin 7 pseudogene 2provided by HGNC Primary source HGNC:HGNC:32049 See related Ensembl:ENSG00000181997 AllianceGenome:HGNC:32049 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AQP7P3, Official Symbol AQP7P3provided by HGNC Official Full Name aquaporin 7 pseudogene 3provided by HGNC Primary source HGNC:HGNC:31976 See related AllianceGenome:HGNC:31976 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQPap-3 Summary Predicted to enable urea transmembrane transporter activity. Predicted to be involved in urea transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 56.7), liver (RPKM 11.7) and 2 other tissues See more
AQP7P5, Official Symbol AQP7P5provided by HGNC Official Full Name aquaporin 7 pseudogene 5provided by HGNC Primary source HGNC:HGNC:51836 See related Ensembl:ENSG00000274067 AllianceGenome:HGNC:51836 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in fat (RPKM 18.8), heart (RPKM 2.0) and 1 other tissue See more
AQP8, Official Symbol AQP8provided by HGNC Official Full Name aquaporin 8provided by HGNC Primary source HGNC:HGNC:642 See related Ensembl:ENSG00000103375 MIM:603750; AllianceGenome:HGNC:642 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AQP-8 Summary Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008] Expression Restricted expression toward colon (RPKM 257.9) See more Orthologs mouse all
AQP9, Official Symbol AQP9provided by HGNC Official Full Name aquaporin 9provided by HGNC Primary source HGNC:HGNC:643 See related Ensembl:ENSG00000103569 MIM:602914; AllianceGenome:HGNC:643 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SSC1; AQP-9; T17287; HsT17287 Summary The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Biased expression in liver (RPKM 174.7), appendix (RPKM 48.0) and 3 other tissues See more Orthologs mouse all
AQR, Official Symbol AQRprovided by HGNC Official Full Name aquarius intron-binding spliceosomal factorprovided by HGNC Primary source HGNC:HGNC:29513 See related Ensembl:ENSG00000021776 MIM:610548; AllianceGenome:HGNC:29513 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IBP160; fSAP164 Summary Enables 3'-5' RNA helicase activity and single-stranded RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.7), thyroid (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
AR, Official Symbol ARprovided by HGNC Official Full Name androgen receptorprovided by HGNC Primary source HGNC:HGNC:644 See related Ensembl:ENSG00000169083 MIM:313700; AllianceGenome:HGNC:644 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KD; AIS; AR8; TFM; DHTR; SBMA; HYSP1; NR3C4; SMAX1; HUMARA Summary The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017] Expression Biased expression in liver (RPKM 12.9), endometrium (RPKM 10.8) and 13 other tissues See more Orthologs mouse all
ARAF, Official Symbol ARAFprovided by HGNC Official Full Name A-Raf proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:646 See related Ensembl:ENSG00000078061 MIM:311010; AllianceGenome:HGNC:646 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PKS2; A-RAF; ARAF1; RAFA1 Summary Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of cellular protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 16.5), spleen (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
ARAP1, Official Symbol ARAP1provided by HGNC Official Full Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1provided by HGNC Primary source HGNC:HGNC:16925 See related Ensembl:ENSG00000186635 MIM:606646; AllianceGenome:HGNC:16925 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CENTD2; cnt-d2 Summary The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in spleen (RPKM 32.0), appendix (RPKM 25.3) and 25 other tissues See more Orthologs mouse all
ARAP1-AS2, Official Symbol ARAP1-AS2provided by HGNC Official Full Name ARAP1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:39994 See related Ensembl:ENSG00000245148 AllianceGenome:HGNC:39994 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ARAP2, Official Symbol ARAP2provided by HGNC Official Full Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2provided by HGNC Primary source HGNC:HGNC:16924 See related Ensembl:ENSG00000047365 MIM:606645; AllianceGenome:HGNC:16924 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PARX; CENTD1 Summary The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] Expression Broad expression in thyroid (RPKM 5.9), brain (RPKM 5.8) and 22 other tissues See more Orthologs mouse all
ARAP3, Official Symbol ARAP3provided by HGNC Official Full Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3provided by HGNC Primary source HGNC:HGNC:24097 See related Ensembl:ENSG00000120318 MIM:606647; AllianceGenome:HGNC:24097 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DRAG1; CENTD3 Summary This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015] Expression Broad expression in lung (RPKM 9.2), fat (RPKM 7.9) and 24 other tissues See more Orthologs mouse all
ARC, Official Symbol ARCprovided by HGNC Official Full Name activity regulated cytoskeleton associated proteinprovided by HGNC Primary source HGNC:HGNC:648 See related Ensembl:ENSG00000198576 MIM:612461; AllianceGenome:HGNC:648 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hArc; Arg3.1 Summary Predicted to enable mRNA binding activity. Involved in cell migration; cytoskeleton organization; and regulation of cell morphogenesis. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 5.5), brain (RPKM 5.4) and 9 other tissues See more Orthologs mouse all
ARCN1, Official Symbol ARCN1provided by HGNC Official Full Name archain 1provided by HGNC Primary source HGNC:HGNC:649 See related Ensembl:ENSG00000095139 MIM:600820; AllianceGenome:HGNC:649 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COPD; SSMG; SRMMD Summary This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 45.3), urinary bladder (RPKM 37.0) and 25 other tissues See more Orthologs mouse all
AREG, Official Symbol AREGprovided by HGNC Official Full Name amphiregulinprovided by HGNC Primary source HGNC:HGNC:651 See related Ensembl:ENSG00000109321 MIM:104640; AllianceGenome:HGNC:651 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AR; SDGF; AREGB; CRDGF Summary The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014] Expression Biased expression in placenta (RPKM 177.3), bone marrow (RPKM 37.7) and 5 other tissues See more Orthologs mouse all
AREL1, Official Symbol AREL1provided by HGNC Official Full Name apoptosis resistant E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:20363 See related Ensembl:ENSG00000119682 MIM:615380; AllianceGenome:HGNC:20363 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FIEL1; KIAA0317 Summary Enables ubiquitin-protein transferase activity. Involved in negative regulation of apoptotic process; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.1), thyroid (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
ARF1, Official Symbol ARF1provided by HGNC Official Full Name ADP ribosylation factor 1provided by HGNC Primary source HGNC:HGNC:652 See related Ensembl:ENSG00000143761 MIM:103180; AllianceGenome:HGNC:652 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PVNH8 Summary ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 152.3), thyroid (RPKM 137.5) and 25 other tissues See more Orthologs mouse all
ARF3, Official Symbol ARF3provided by HGNC Official Full Name ADP ribosylation factor 3provided by HGNC Primary source HGNC:HGNC:654 See related Ensembl:ENSG00000134287 MIM:103190; AllianceGenome:HGNC:654 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022] Expression Ubiquitous expression in brain (RPKM 69.0), colon (RPKM 28.8) and 24 other tissues See more Orthologs mouse all
ARF4, Official Symbol ARF4provided by HGNC Official Full Name ADP ribosylation factor 4provided by HGNC Primary source HGNC:HGNC:655 See related Ensembl:ENSG00000168374 MIM:601177; AllianceGenome:HGNC:655 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARF2 Summary This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 100.9), placenta (RPKM 94.0) and 25 other tissues See more Orthologs mouse all
ARF4-AS1, Official Symbol ARF4-AS1provided by HGNC Official Full Name ARF4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51593 See related Ensembl:ENSG00000272146 AllianceGenome:HGNC:51593 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 1.1), fat (RPKM 0.9) and 23 other tissues See more
ARF4P1, Official Symbol ARF4P1provided by HGNC Official Full Name ADP ribosylation factor 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:657 See related AllianceGenome:HGNC:657 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARF4P
ARF4P4, Official Symbol ARF4P4provided by HGNC Official Full Name ADP ribosylation factor 4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:37628 See related AllianceGenome:HGNC:37628 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ARF5, Official Symbol ARF5provided by HGNC Official Full Name ADP ribosylation factor 5provided by HGNC Primary source HGNC:HGNC:658 See related Ensembl:ENSG00000004059 MIM:103188; AllianceGenome:HGNC:658 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in esophagus (RPKM 84.6), skin (RPKM 63.4) and 25 other tissues See more Orthologs mouse all
ARF6, Official Symbol ARF6provided by HGNC Official Full Name ADP ribosylation factor 6provided by HGNC Primary source HGNC:HGNC:659 See related Ensembl:ENSG00000165527 MIM:600464; AllianceGenome:HGNC:659 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 54.5), colon (RPKM 38.8) and 25 other tissues See more Orthologs mouse all
ARFGAP1, Official Symbol ARFGAP1provided by HGNC Official Full Name ADP ribosylation factor GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:15852 See related Ensembl:ENSG00000101199 MIM:608377; AllianceGenome:HGNC:15852 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARF1GAP; HRIHFB2281 Summary The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in spleen (RPKM 11.8), testis (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
ARFGAP2, Official Symbol ARFGAP2provided by HGNC Official Full Name ADP ribosylation factor GTPase activating protein 2provided by HGNC Primary source HGNC:HGNC:13504 See related Ensembl:ENSG00000149182 MIM:606908; AllianceGenome:HGNC:13504 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRZ; ZFP289; ZNF289; NBLA10535 Summary Predicted to enable GTPase activator activity. Predicted to be involved in COPI coating of Golgi vesicle. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 24.0), brain (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
ARFGAP3, Official Symbol ARFGAP3provided by HGNC Official Full Name ADP ribosylation factor GTPase activating protein 3provided by HGNC Primary source HGNC:HGNC:661 See related Ensembl:ENSG00000242247 MIM:612439; AllianceGenome:HGNC:661 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARFGAP1 Summary The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in adrenal (RPKM 47.6), prostate (RPKM 36.1) and 25 other tissues See more Orthologs mouse all
ARFGEF1, Official Symbol ARFGEF1provided by HGNC Official Full Name ADP ribosylation factor guanine nucleotide exchange factor 1provided by HGNC Primary source HGNC:HGNC:15772 See related Ensembl:ENSG00000066777 MIM:604141; AllianceGenome:HGNC:15772 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIG1; P200; DEDISB; ARFGEP1 Summary ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 17.7), thyroid (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
ARFGEF2, Official Symbol ARFGEF2provided by HGNC Official Full Name ADP ribosylation factor guanine nucleotide exchange factor 2provided by HGNC Primary source HGNC:HGNC:15853 See related Ensembl:ENSG00000124198 MIM:605371; AllianceGenome:HGNC:15853 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIG2; PVNH2; dJ1164I10.1 Summary ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 19.9), adrenal (RPKM 14.6) and 25 other tissues See more Orthologs mouse all