psui3905/ncbi_genes_summary huggingface dataset:
QARS1, Official Symbol QARS1provided by HGNC Official Full Name glutaminyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:9751 See related Ensembl:ENSG00000172053 MIM:603727; AllianceGenome:HGNC:9751 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 QARS; GLNRS; MSCCA; PRO2195 Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in colon (RPKM 48.6), skin (RPKM 46.9) and 25 other tissues See more Orthologs mouse all
QDPR, Official Symbol QDPRprovided by HGNC Official Full Name quinoid dihydropteridine reductaseprovided by HGNC Primary source HGNC:HGNC:9752 See related Ensembl:ENSG00000151552 MIM:612676; AllianceGenome:HGNC:9752 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 DHPR; PKU2; HDHPR; SDR33C1 Summary This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 86.6), kidney (RPKM 64.2) and 24 other tissues See more Orthologs mouse all
QKI, Official Symbol QKIprovided by HGNC Official Full Name QKI, KH domain containing RNA bindingprovided by HGNC Primary source HGNC:HGNC:21100 See related Ensembl:ENSG00000112531 MIM:609590; AllianceGenome:HGNC:21100 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 QK; Hqk; QK1; QK3; hqkI Summary The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Broad expression in brain (RPKM 50.5), fat (RPKM 18.4) and 21 other tissues See more Orthologs mouse all
QPCT, Official Symbol QPCTprovided by HGNC Official Full Name glutaminyl-peptide cyclotransferaseprovided by HGNC Primary source HGNC:HGNC:9753 See related Ensembl:ENSG00000115828 MIM:607065; AllianceGenome:HGNC:9753 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 QC; GCT; sQC Summary This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 75.9), bone marrow (RPKM 17.6) and 13 other tissues See more Orthologs mouse all
QPCTL, Official Symbol QPCTLprovided by HGNC Official Full Name glutaminyl-peptide cyclotransferase likeprovided by HGNC Primary source HGNC:HGNC:25952 See related Ensembl:ENSG00000011478 AllianceGenome:HGNC:25952 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 gQC Summary Enables glutaminyl-peptide cyclotransferase activity and zinc ion binding activity. Acts upstream of or within peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 3.4), prostate (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
QPRT, Official Symbol QPRTprovided by HGNC Official Full Name quinolinate phosphoribosyltransferaseprovided by HGNC Primary source HGNC:HGNC:9755 See related Ensembl:ENSG00000103485 MIM:606248; AllianceGenome:HGNC:9755 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 QPRTase; HEL-S-90n Summary This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Broad expression in kidney (RPKM 60.9), liver (RPKM 33.8) and 14 other tissues See more Orthologs mouse all
QRFP, Official Symbol QRFPprovided by HGNC Official Full Name pyroglutamylated RFamide peptideprovided by HGNC Primary source HGNC:HGNC:29982 See related Ensembl:ENSG00000188710 MIM:609795; AllianceGenome:HGNC:29982 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 P518; 26RFa Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. The encoded products are members of the RFamide family of neuropeptides, characterized by their common protein C-terminus consisting of an arginine (R) and an amidated phenylalanine (F). These products include the neuropeptides 26RFa and the N-terminally extended form, 43RFa. Both of these neuropeptides bind to the pyroglutamylated RFamide peptide receptor (QRFPR) and may regulate blood pressure, reproduction and food intake in rodents. [provided by RefSeq, Jul 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
QRFPR, Official Symbol QRFPRprovided by HGNC Official Full Name pyroglutamylated RFamide peptide receptorprovided by HGNC Primary source HGNC:HGNC:15565 See related Ensembl:ENSG00000186867 MIM:606925; AllianceGenome:HGNC:15565 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 AQ27; GPR103; SP9155 Summary Enables G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway. Predicted to be located in non-motile cilium. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
QRICH1, Official Symbol QRICH1provided by HGNC Official Full Name glutamine rich 1provided by HGNC Primary source HGNC:HGNC:24713 See related Ensembl:ENSG00000198218 MIM:617387; AllianceGenome:HGNC:24713 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 AB-DIP; VERBRAS Summary Enables DNA binding activity. Involved in several processes, including PERK-mediated unfolded protein response; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and positive regulation of transcription, DNA-templated. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 28.0), bone marrow (RPKM 21.2) and 25 other tissues See more Orthologs mouse all
QRICH2, Official Symbol QRICH2provided by HGNC Official Full Name glutamine rich 2provided by HGNC Primary source HGNC:HGNC:25326 See related Ensembl:ENSG00000129646 MIM:618304; AllianceGenome:HGNC:25326 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 SPGF35 Summary Involved in cell projection assembly; flagellated sperm motility; and negative regulation of ubiquitin-dependent protein catabolic process. Located in sperm flagellum. Implicated in spermatogenic failure 35. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.3), thyroid (RPKM 0.7) and 9 other tissues See more Orthologs mouse all
QRSL1, Official Symbol QRSL1provided by HGNC Official Full Name glutaminyl-tRNA amidotransferase subunit QRSL1provided by HGNC Primary source HGNC:HGNC:21020 See related Ensembl:ENSG00000130348 MIM:617209; AllianceGenome:HGNC:21020 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 GatA; COXPD40 Summary Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
QRSL1P1, Official Symbol QRSL1P1provided by HGNC Official Full Name QRSL1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43667 See related Ensembl:ENSG00000215833 AllianceGenome:HGNC:43667 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
QRSL1P2, Official Symbol QRSL1P2provided by HGNC Official Full Name QRSL1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:43668 See related Ensembl:ENSG00000227613 AllianceGenome:HGNC:43668 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
QRSL1P3, Official Symbol QRSL1P3provided by HGNC Official Full Name QRSL1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43669 See related Ensembl:ENSG00000257957 AllianceGenome:HGNC:43669 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
QSER1, Official Symbol QSER1provided by HGNC Official Full Name glutamine and serine rich 1provided by HGNC Primary source HGNC:HGNC:26154 See related Ensembl:ENSG00000060749 MIM:619440; AllianceGenome:HGNC:26154 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 Expression Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
QSOX1, Official Symbol QSOX1provided by HGNC Official Full Name quiescin sulfhydryl oxidase 1provided by HGNC Primary source HGNC:HGNC:9756 See related Ensembl:ENSG00000116260 MIM:603120; AllianceGenome:HGNC:9756 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 Q6; QSCN6 Summary This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 86.5), stomach (RPKM 79.3) and 25 other tissues See more Orthologs mouse all
QSOX2, Official Symbol QSOX2provided by HGNC Official Full Name quiescin sulfhydryl oxidase 2provided by HGNC Primary source HGNC:HGNC:30249 See related Ensembl:ENSG00000165661 MIM:612860; AllianceGenome:HGNC:30249 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 SOXN; QSCN6L1 Summary QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in lymph node (RPKM 8.6), spleen (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
QTRT1, Official Symbol QTRT1provided by HGNC Official Full Name queuine tRNA-ribosyltransferase catalytic subunit 1provided by HGNC Primary source HGNC:HGNC:23797 See related Ensembl:ENSG00000213339 MIM:609615; AllianceGenome:HGNC:23797 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 TGT; TGUT; FP3235 Summary This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in ovary (RPKM 18.9), thyroid (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
QTRT1P1, Official Symbol QTRT1P1provided by HGNC Official Full Name queuine tRNA-ribosyltransferase catalytic subunit 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39179 See related Ensembl:ENSG00000270524 AllianceGenome:HGNC:39179 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
QTRT2, Official Symbol QTRT2provided by HGNC Official Full Name queuine tRNA-ribosyltransferase accessory subunit 2provided by HGNC Primary source HGNC:HGNC:25771 See related Ensembl:ENSG00000151576 AllianceGenome:HGNC:25771 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 QTRTD1 Summary This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in lymph node (RPKM 5.0), spleen (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
R3HCC1, Official Symbol R3HCC1provided by HGNC Official Full Name R3H domain and coiled-coil containing 1provided by HGNC Primary source HGNC:HGNC:27329 See related Ensembl:ENSG00000104679 AllianceGenome:HGNC:27329 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 Summary Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.1), fat (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
R3HCC1L, Official Symbol R3HCC1Lprovided by HGNC Official Full Name R3H domain and coiled-coil containing 1 likeprovided by HGNC Primary source HGNC:HGNC:23512 See related Ensembl:ENSG00000166024 AllianceGenome:HGNC:23512 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 PSORT; GIDRP86; GIDRP88; C10orf28 Summary Colocalizes with exon-exon junction complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 8.9), bone marrow (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
R3HDM1, Official Symbol R3HDM1provided by HGNC Official Full Name R3H domain containing 1provided by HGNC Primary source HGNC:HGNC:9757 See related Ensembl:ENSG00000048991 MIM:619474; AllianceGenome:HGNC:9757 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 R3HDM Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 20.1), testis (RPKM 10.5) and 23 other tissues See more Orthologs mouse all
R3HDM2, Official Symbol R3HDM2provided by HGNC Official Full Name R3H domain containing 2provided by HGNC Primary source HGNC:HGNC:29167 See related Ensembl:ENSG00000179912 MIM:619886; AllianceGenome:HGNC:29167 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 CAG6; PR01365 Summary Enables RNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 15.1), testis (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
R3HDM2P1, Official Symbol R3HDM2P1provided by HGNC Official Full Name R3H domain containing 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44056 See related Ensembl:ENSG00000248735 AllianceGenome:HGNC:44056 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
R3HDM2P2, Official Symbol R3HDM2P2provided by HGNC Official Full Name R3H domain containing 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44057 See related Ensembl:ENSG00000216817 AllianceGenome:HGNC:44057 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
R3HDM4, Official Symbol R3HDM4provided by HGNC Official Full Name R3H domain containing 4provided by HGNC Primary source HGNC:HGNC:28270 See related Ensembl:ENSG00000198858 AllianceGenome:HGNC:28270 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 C19orf22 Summary Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 39.3), appendix (RPKM 29.8) and 25 other tissues See more Orthologs mouse all
R3HDML, Official Symbol R3HDMLprovided by HGNC Official Full Name R3H domain containing likeprovided by HGNC Primary source HGNC:HGNC:16249 See related Ensembl:ENSG00000101074 AllianceGenome:HGNC:16249 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 dJ881L22.3 Summary Predicted to enable peptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
RAB10, Official Symbol RAB10provided by HGNC Official Full Name RAB10, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9759 See related Ensembl:ENSG00000084733 MIM:612672; AllianceGenome:HGNC:9759 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 Summary RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009] Expression Ubiquitous expression in esophagus (RPKM 102.3), colon (RPKM 40.9) and 25 other tissues See more Orthologs mouse all
RAB11A, Official Symbol RAB11Aprovided by HGNC Official Full Name RAB11A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9760 See related Ensembl:ENSG00000103769 MIM:605570; AllianceGenome:HGNC:9760 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 YL8 Summary The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Ubiquitous expression in esophagus (RPKM 50.5), adrenal (RPKM 37.5) and 25 other tissues See more Orthologs mouse all
RAB11AP1, Official Symbol RAB11AP1provided by HGNC Official Full Name RAB11A, member RAS oncogene family pseudogene 1provided by HGNC Primary source HGNC:HGNC:45188 See related Ensembl:ENSG00000227995 AllianceGenome:HGNC:45188 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB11AP2, Official Symbol RAB11AP2provided by HGNC Official Full Name RAB11A, member RAS oncogene family pseudogene 2provided by HGNC Primary source HGNC:HGNC:45189 See related Ensembl:ENSG00000255976 AllianceGenome:HGNC:45189 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB11B, Official Symbol RAB11Bprovided by HGNC Official Full Name RAB11B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9761 See related Ensembl:ENSG00000185236 MIM:604198; AllianceGenome:HGNC:9761 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 H-YPT3; NDAGSCW Summary The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in fat (RPKM 36.5), thyroid (RPKM 36.2) and 25 other tissues See more Orthologs mouse all
RAB11B-AS1, Official Symbol RAB11B-AS1provided by HGNC Official Full Name RAB11B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44178 See related Ensembl:ENSG00000269386 AllianceGenome:HGNC:44178 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 MIR4999HG Expression Ubiquitous expression in fat (RPKM 5.6), kidney (RPKM 5.2) and 25 other tissues See more
RAB11FIP1, Official Symbol RAB11FIP1provided by HGNC Official Full Name RAB11 family interacting protein 1provided by HGNC Primary source HGNC:HGNC:30265 See related Ensembl:ENSG00000156675 MIM:608737; AllianceGenome:HGNC:30265 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 RCP; NOEL1A; rab11-FIP1 Summary This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013] Expression Broad expression in lung (RPKM 41.1), small intestine (RPKM 24.3) and 22 other tissues See more Orthologs mouse all
RAB11FIP1P1, Official Symbol RAB11FIP1P1provided by HGNC Official Full Name RAB11 family interacting protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42366 See related AllianceGenome:HGNC:42366 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB11FIP2, Official Symbol RAB11FIP2provided by HGNC Official Full Name RAB11 family interacting protein 2provided by HGNC Primary source HGNC:HGNC:29152 See related Ensembl:ENSG00000107560 MIM:608599; AllianceGenome:HGNC:29152 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 nRip11; Rab11-FIP2 Summary Enables protein homodimerization activity and protein kinase binding activity. Involved in several processes, including TRAM-dependent toll-like receptor 4 signaling pathway; phagocytosis; and positive regulation of GTPase activity. Located in endosome; nucleoplasm; and phagocytic cup. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 12.0), brain (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
RAB11FIP3, Official Symbol RAB11FIP3provided by HGNC Official Full Name RAB11 family interacting protein 3provided by HGNC Primary source HGNC:HGNC:17224 See related Ensembl:ENSG00000090565 MIM:608738; AllianceGenome:HGNC:17224 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 CART1; FIP3-Rab11; Rab11-FIP3 Summary Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] Expression Broad expression in kidney (RPKM 33.4), brain (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
RAB11FIP4, Official Symbol RAB11FIP4provided by HGNC Official Full Name RAB11 family interacting protein 4provided by HGNC Primary source HGNC:HGNC:30267 See related Ensembl:ENSG00000131242 MIM:611999; AllianceGenome:HGNC:30267 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 FIP4-Rab11; RAB11-FIP4 Summary The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016] Expression Broad expression in brain (RPKM 25.4), testis (RPKM 6.0) and 17 other tissues See more Orthologs mouse all
RAB11FIP5, Official Symbol RAB11FIP5provided by HGNC Official Full Name RAB11 family interacting protein 5provided by HGNC Primary source HGNC:HGNC:24845 See related Ensembl:ENSG00000135631 MIM:605536; AllianceGenome:HGNC:24845 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 GAF1; pp75; RIP11; gaf-1; rab11-FIP5 Summary Enables gamma-tubulin binding activity. Involved in cellular response to acidic pH; negative regulation of adiponectin secretion; and regulation of protein localization to cell surface. Located in centriolar satellite and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 48.5), kidney (RPKM 16.7) and 18 other tissues See more Orthologs mouse all
RAB12, Official Symbol RAB12provided by HGNC Official Full Name RAB12, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:31332 See related Ensembl:ENSG00000206418 MIM:616448; AllianceGenome:HGNC:31332 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 Summary Enables GDP binding activity. Predicted to be involved in several processes, including cellular response to insulin stimulus; endosome to lysosome transport; and secretion by cell. Predicted to act upstream of or within cellular response to interferon-gamma. Predicted to be located in lysosome; phagocytic vesicle; and recycling endosome membrane. Predicted to be active in Golgi apparatus; cytoplasmic vesicle; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 8.8), fat (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
RAB13, Official Symbol RAB13provided by HGNC Official Full Name RAB13, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9762 See related Ensembl:ENSG00000143545 MIM:602672; AllianceGenome:HGNC:9762 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 GIG4 Summary This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in urinary bladder (RPKM 34.2), prostate (RPKM 33.4) and 25 other tissues See more Orthologs mouse all
RAB14, Official Symbol RAB14provided by HGNC Official Full Name RAB14, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16524 See related Ensembl:ENSG00000119396 MIM:612673; AllianceGenome:HGNC:16524 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 FBP; RAB-14 Summary RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009] Expression Ubiquitous expression in brain (RPKM 33.7), lung (RPKM 31.9) and 25 other tissues See more Orthologs mouse all
RAB15, Official Symbol RAB15provided by HGNC Official Full Name RAB15, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:20150 See related Ensembl:ENSG00000139998 MIM:619547; AllianceGenome:HGNC:20150 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 Summary Predicted to enable GTP binding activity and GTPase activity. Involved in positive regulation of regulated secretory pathway. Located in cilium; endosome membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 21.8), urinary bladder (RPKM 12.3) and 21 other tissues See more Orthologs mouse all
RAB17, Official Symbol RAB17provided by HGNC Official Full Name RAB17, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16523 See related Ensembl:ENSG00000124839 MIM:602206; AllianceGenome:HGNC:16523 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 Summary The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009] Expression Biased expression in duodenum (RPKM 20.0), small intestine (RPKM 19.8) and 12 other tissues See more Orthologs mouse all
RAB18, Official Symbol RAB18provided by HGNC Official Full Name RAB18, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:14244 See related Ensembl:ENSG00000099246 MIM:602207; AllianceGenome:HGNC:14244 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 WARBM3; RAB18LI1 Summary The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues See more Orthologs mouse all
RAB19, Official Symbol RAB19provided by HGNC Official Full Name RAB19, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:19982 See related Ensembl:ENSG00000146955 AllianceGenome:HGNC:19982 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 RAB19B Summary Predicted to enable GTPase activity. Predicted to be involved in autophagosome assembly and intracellular protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 1.1), thyroid (RPKM 1.0) and 15 other tissues See more Orthologs mouse all
RAB1A, Official Symbol RAB1Aprovided by HGNC Official Full Name RAB1A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9758 See related Ensembl:ENSG00000138069 MIM:179508; AllianceGenome:HGNC:9758 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 RAB1; YPT1 Summary This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in kidney (RPKM 68.0), thyroid (RPKM 58.5) and 25 other tissues See more Orthologs mouse all
RAB1AP2, Official Symbol RAB1AP2provided by HGNC Official Full Name RAB1A pseudogene 2provided by HGNC Primary source HGNC:HGNC:54645 See related AllianceGenome:HGNC:54645 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB1B, Official Symbol RAB1Bprovided by HGNC Official Full Name RAB1B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18370 See related Ensembl:ENSG00000174903 MIM:612565; AllianceGenome:HGNC:18370 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 Summary Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009] Expression Ubiquitous expression in prostate (RPKM 64.5), fat (RPKM 64.0) and 25 other tissues See more Orthologs mouse all
RAB20, Official Symbol RAB20provided by HGNC Official Full Name RAB20, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18260 See related Ensembl:ENSG00000139832 AllianceGenome:HGNC:18260 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 Summary Predicted to enable GTPase activity. Involved in phagosome acidification and phagosome-lysosome fusion. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 17.6), adrenal (RPKM 17.2) and 24 other tissues See more Orthologs mouse all
RAB21, Official Symbol RAB21provided by HGNC Official Full Name RAB21, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18263 See related Ensembl:ENSG00000080371 MIM:612398; AllianceGenome:HGNC:18263 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 belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in kidney (RPKM 10.9), adrenal (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
RAB22A, Official Symbol RAB22Aprovided by HGNC Official Full Name RAB22A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9764 See related Ensembl:ENSG00000124209 MIM:612966; AllianceGenome:HGNC:9764 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 The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 7.8), adrenal (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
RAB23, Official Symbol RAB23provided by HGNC Official Full Name RAB23, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:14263 See related Ensembl:ENSG00000112210 MIM:606144; AllianceGenome:HGNC:14263 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 HSPC137 Summary This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues See more Orthologs mouse all
RAB24, Official Symbol RAB24provided by HGNC Official Full Name RAB24, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9765 See related Ensembl:ENSG00000169228 MIM:612415; AllianceGenome:HGNC:9765 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 Summary RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009] Expression Ubiquitous expression in spleen (RPKM 20.5), appendix (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
RAB25, Official Symbol RAB25provided by HGNC Official Full Name RAB25, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18238 See related Ensembl:ENSG00000132698 MIM:612942; AllianceGenome:HGNC:18238 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 CATX-8; RAB11C Summary The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015] Expression Biased expression in esophagus (RPKM 128.3), skin (RPKM 60.6) and 12 other tissues See more Orthologs mouse all
RAB26, Official Symbol RAB26provided by HGNC Official Full Name RAB26, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:14259 See related Ensembl:ENSG00000167964 MIM:605455; AllianceGenome:HGNC:14259 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 V46133 Summary Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010] Expression Broad expression in brain (RPKM 4.5), salivary gland (RPKM 3.5) and 15 other tissues See more Orthologs mouse all