psui3905/ncbi_genes_summary huggingface dataset:
RAB27A, Official Symbol RAB27Aprovided by HGNC Official Full Name RAB27A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9766 See related Ensembl:ENSG00000069974 MIM:603868; AllianceGenome:HGNC:9766 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 GS2; RAM; RAB27; HsT18676 Summary The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 20.4), prostate (RPKM 17.9) and 23 other tissues See more Orthologs mouse all
RAB27B, Official Symbol RAB27Bprovided by HGNC Official Full Name RAB27B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9767 See related Ensembl:ENSG00000041353 MIM:603869; AllianceGenome:HGNC:9767 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 C25KG Summary Enables guanyl ribonucleotide binding activity; myosin V binding activity; and protein domain specific binding activity. Involved in multivesicular body sorting pathway and positive regulation of exocytosis. Located in Golgi stack and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 15.0), prostate (RPKM 9.9) and 13 other tissues See more Orthologs mouse all
RAB28, Official Symbol RAB28provided by HGNC Official Full Name RAB28, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9768 See related Ensembl:ENSG00000157869 MIM:612994; AllianceGenome:HGNC:9768 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 CORD18 Summary This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in testis (RPKM 2.8), brain (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
RAB29, Official Symbol RAB29provided by HGNC Official Full Name RAB29, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9789 See related Ensembl:ENSG00000117280 MIM:603949; AllianceGenome:HGNC:9789 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 RAB7L; RAB7L1 Summary Enables several functions, including dynein complex binding activity; guanyl ribonucleotide binding activity; and kinesin binding activity. Involved in several processes, including positive regulation of T cell receptor signaling pathway; positive regulation of receptor recycling; and toxin transport. Located in several cellular components, including Golgi apparatus; endosome; and vacuole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 27.5), thyroid (RPKM 17.1) and 24 other tissues See more Orthologs mouse all
RAB2A, Official Symbol RAB2Aprovided by HGNC Official Full Name RAB2A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9763 See related Ensembl:ENSG00000104388 MIM:179509; AllianceGenome:HGNC:9763 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 LHX; RAB2 Summary The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in brain (RPKM 44.0), thyroid (RPKM 43.9) and 25 other tissues See more Orthologs mouse all
RAB2B, Official Symbol RAB2Bprovided by HGNC Official Full Name RAB2B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:20246 See related Ensembl:ENSG00000129472 MIM:607466; AllianceGenome:HGNC:20246 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 are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006] Expression Ubiquitous expression in bone marrow (RPKM 6.9), testis (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
RAB30, Official Symbol RAB30provided by HGNC Official Full Name RAB30, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9770 See related Ensembl:ENSG00000137502 MIM:605693; AllianceGenome:HGNC:9770 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 Golgi organization. Located in Golgi cisterna; cis-Golgi network; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.4), lymph node (RPKM 5.8) and 24 other tissues See more Orthologs mouse all
RAB31, Official Symbol RAB31provided by HGNC Official Full Name RAB31, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9771 See related Ensembl:ENSG00000168461 MIM:605694; AllianceGenome:HGNC:9771 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 Rab22B Summary Enables GDP binding activity and GTP binding activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 65.3), adrenal (RPKM 60.7) and 22 other tissues See more Orthologs mouse all
RAB32, Official Symbol RAB32provided by HGNC Official Full Name RAB32, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9772 See related Ensembl:ENSG00000118508 MIM:612906; AllianceGenome:HGNC:9772 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 anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015] Expression Broad expression in bone marrow (RPKM 49.7), spleen (RPKM 19.8) and 23 other tissues See more Orthologs mouse all
RAB33A, Official Symbol RAB33Aprovided by HGNC Official Full Name RAB33A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9773 See related Ensembl:ENSG00000134594 MIM:300333; AllianceGenome:HGNC:9773 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 RabS10 Summary The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 10.9), lymph node (RPKM 3.6) and 7 other tissues See more Orthologs mouse all
RAB33B, Official Symbol RAB33Bprovided by HGNC Official Full Name RAB33B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16075 See related Ensembl:ENSG00000172007 MIM:605950; AllianceGenome:HGNC:16075 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 SMC2 Summary This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
RAB34, Official Symbol RAB34provided by HGNC Official Full Name RAB34, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16519 See related Ensembl:ENSG00000109113 MIM:610917; AllianceGenome:HGNC:16519 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 RAH; NARR; RAB39 Summary This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in ovary (RPKM 30.9), endometrium (RPKM 28.1) and 23 other tissues See more Orthologs mouse all
RAB35, Official Symbol RAB35provided by HGNC Official Full Name RAB35, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9774 See related Ensembl:ENSG00000111737 MIM:604199; AllianceGenome:HGNC:9774 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 RAY; H-ray; RAB1C Summary Enables GTPase activity; guanyl ribonucleotide binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including endosomal transport; plasma membrane to endosome transport; and protein localization to endosome. Located in several cellular components, including clathrin-coated endocytic vesicle; clathrin-coated pit; and intercellular bridge. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 16.4), appendix (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
RAB36, Official Symbol RAB36provided by HGNC Official Full Name RAB36, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9775 See related Ensembl:ENSG00000100228 MIM:605662; AllianceGenome:HGNC:9775 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. Predicted to be involved in protein transport. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 6.1), kidney (RPKM 2.1) and 17 other tissues See more Orthologs mouse all
RAB37, Official Symbol RAB37provided by HGNC Official Full Name RAB37, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:30268 See related Ensembl:ENSG00000172794 MIM:609956; AllianceGenome:HGNC:30268 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 Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006] Expression Broad expression in spleen (RPKM 9.4), bone marrow (RPKM 7.1) and 20 other tissues See more Orthologs mouse all
RAB38, Official Symbol RAB38provided by HGNC Official Full Name RAB38, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9776 See related Ensembl:ENSG00000123892 MIM:606281; AllianceGenome:HGNC:9776 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 rrGTPbp; NY-MEL-1 Summary Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues See more Orthologs mouse all
RAB39A, Official Symbol RAB39Aprovided by HGNC Official Full Name RAB39A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16521 See related Ensembl:ENSG00000179331 MIM:619558; AllianceGenome:HGNC:16521 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 K28; RAB39 Summary Predicted to enable GTPase activity. Involved in phagosome acidification and phagosome-lysosome fusion. Located in phagocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 2.3), appendix (RPKM 1.8) and 16 other tissues See more Orthologs mouse all
RAB39B, Official Symbol RAB39Bprovided by HGNC Official Full Name RAB39B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16499 See related Ensembl:ENSG00000155961 MIM:300774; AllianceGenome:HGNC:16499 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 WSN; BGMR; WSMN; MRX72; XLID72 Summary This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013] Expression Biased expression in brain (RPKM 8.4), lymph node (RPKM 3.0) and 11 other tissues See more Orthologs mouse all
RAB3A, Official Symbol RAB3Aprovided by HGNC Official Full Name RAB3A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9777 See related Ensembl:ENSG00000105649 MIM:179490; AllianceGenome:HGNC:9777 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 GTPase activity and myosin V binding activity. Involved in several processes, including acrosomal vesicle exocytosis; lysosome localization; and plasma membrane repair. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 78.9), heart (RPKM 7.0) and 1 other tissue See more Orthologs mouse all
RAB3B, Official Symbol RAB3Bprovided by HGNC Official Full Name RAB3B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9778 See related Ensembl:ENSG00000169213 MIM:179510; AllianceGenome:HGNC:9778 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; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse. Is anchored component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 6.0), brain (RPKM 3.4) and 11 other tissues See more Orthologs mouse all
RAB3C, Official Symbol RAB3Cprovided by HGNC Official Full Name RAB3C, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:30269 See related Ensembl:ENSG00000152932 MIM:612829; AllianceGenome:HGNC:30269 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 RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Biased expression in brain (RPKM 24.5) and adrenal (RPKM 6.1) See more Orthologs mouse all
RAB3D, Official Symbol RAB3Dprovided by HGNC Official Full Name RAB3D, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9779 See related Ensembl:ENSG00000105514 MIM:604350; AllianceGenome:HGNC:9779 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 GOV; D2-2; RAB16; RAD3D Summary Enables myosin V binding activity. Involved in bone resorption and positive regulation of regulated secretory pathway. Located in cytoplasmic microtubule and secretory vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 14.0) and 22 other tissues See more Orthologs mouse all
RAB3GAP1, Official Symbol RAB3GAP1provided by HGNC Official Full Name RAB3 GTPase activating protein catalytic subunit 1provided by HGNC Primary source HGNC:HGNC:17063 See related Ensembl:ENSG00000115839 MIM:602536; AllianceGenome:HGNC:17063 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 P130; MARTS2; WARBM1; RAB3GAP; RAB3GAP130 Summary This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in brain (RPKM 16.8), thyroid (RPKM 15.9) and 25 other tissues See more Orthologs mouse all
RAB3GAP2, Official Symbol RAB3GAP2provided by HGNC Official Full Name RAB3 GTPase activating non-catalytic protein subunit 2provided by HGNC Primary source HGNC:HGNC:17168 See related Ensembl:ENSG00000118873 MIM:609275; AllianceGenome:HGNC:17168 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 p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150 Summary The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in thyroid (RPKM 9.2), brain (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
RAB3IL1, Official Symbol RAB3IL1provided by HGNC Official Full Name RAB3A interacting protein like 1provided by HGNC Primary source HGNC:HGNC:9780 See related Ensembl:ENSG00000167994 AllianceGenome:HGNC:9780 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 GRAB Summary This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012] Expression Broad expression in testis (RPKM 14.8), ovary (RPKM 10.2) and 24 other tissues See more Orthologs mouse all
RAB3IP, Official Symbol RAB3IPprovided by HGNC Official Full Name RAB3A interacting proteinprovided by HGNC Primary source HGNC:HGNC:16508 See related Ensembl:ENSG00000127328 MIM:608686; AllianceGenome:HGNC:16508 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 RABIN3; RABIN8 Summary Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cilium assembly; protein localization to organelle; and protein targeting to membrane. Located in centrosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 6.7), kidney (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
RAB40A, Official Symbol RAB40Aprovided by HGNC Official Full Name RAB40A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18283 See related Ensembl:ENSG00000172476 MIM:301065; AllianceGenome:HGNC:18283 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 RAR2; RAR2A Summary This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010] Expression Broad expression in esophagus (RPKM 1.8), testis (RPKM 1.2) and 15 other tissues See more Orthologs all
RAB40AL, Official Symbol RAB40ALprovided by HGNC Official Full Name RAB40A likeprovided by HGNC Primary source HGNC:HGNC:25410 See related Ensembl:ENSG00000102128 MIM:300405; AllianceGenome:HGNC:25410 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 RAR2; RLGP; MRXSMP Summary This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010] Orthologs all
RAB40B, Official Symbol RAB40Bprovided by HGNC Official Full Name RAB40B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18284 See related Ensembl:ENSG00000141542 MIM:619550; AllianceGenome:HGNC:18284 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 RAR; SEC4L Summary The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 11.7), kidney (RPKM 5.9) and 23 other tissues See more Orthologs mouse all
RAB40C, Official Symbol RAB40Cprovided by HGNC Official Full Name RAB40C, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18285 See related Ensembl:ENSG00000197562 MIM:619551; AllianceGenome:HGNC:18285 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 RARL; RASL8C Summary Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in protein localization to plasma membrane. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in endosome; plasma membrane; and synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 11.6), brain (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
RAB41, Official Symbol RAB41provided by HGNC Official Full Name RAB41, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:18293 See related Ensembl:ENSG00000147127 AllianceGenome:HGNC:18293 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 small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010] Expression Low expression observed in reference dataset See more Orthologs all
RAB42, Official Symbol RAB42provided by HGNC Official Full Name RAB42, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:28702 See related Ensembl:ENSG00000188060 AllianceGenome:HGNC:28702 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 GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in Ras protein signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 2.8), placenta (RPKM 2.4) and 23 other tissues See more Orthologs mouse all
RAB43, Official Symbol RAB43provided by HGNC Official Full Name RAB43, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:19983 See related Ensembl:ENSG00000172780 AllianceGenome:HGNC:19983 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 RAB41; RAB11B Summary Enables GTPase activity. Involved in several processes, including Golgi organization; phagosome maturation; and retrograde transport, plasma membrane to Golgi. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 20.1), lung (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
RAB43P1, Official Symbol RAB43P1provided by HGNC Official Full Name RAB43 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33153 See related AllianceGenome:HGNC:33153 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 RAB41P; RAB43P
RAB44, Official Symbol RAB44provided by HGNC Official Full Name RAB44, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:21068 See related Ensembl:ENSG00000255587 AllianceGenome:HGNC:21068 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 RASD3; RASL13; dJ431A14.3 Summary Predicted to enable GTP binding activity; GTPase activity; and calcium ion binding activity. Predicted to be located in azurophil granule membrane; plasma membrane; and specific granule membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 15.4) and lung (RPKM 0.4) See more Orthologs mouse all
RAB4A, Official Symbol RAB4Aprovided by HGNC Official Full Name RAB4A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9781 See related Ensembl:ENSG00000168118 MIM:179511; AllianceGenome:HGNC:9781 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 RAB4; HRES1; HRES-1; HRES-1/RAB4 Summary This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
RAB4B, Official Symbol RAB4Bprovided by HGNC Official Full Name RAB4B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9782 See related Ensembl:ENSG00000167578 MIM:612945; AllianceGenome:HGNC:9782 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 G protein activity and GTP binding activity. Involved in glucose import. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.9), spleen (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
RAB5A, Official Symbol RAB5Aprovided by HGNC Official Full Name RAB5A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9783 See related Ensembl:ENSG00000144566 MIM:179512; AllianceGenome:HGNC:9783 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 RAB5 Summary Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including amyloid-beta clearance by transcytosis; early endosome to late endosome transport; and regulation of exocytosis. Located in several cellular components, including cytoplasmic side of early endosome membrane; nucleoplasm; and terminal bouton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 22.0), thyroid (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
RAB5B, Official Symbol RAB5Bprovided by HGNC Official Full Name RAB5B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9784 See related Ensembl:ENSG00000111540 MIM:179514; AllianceGenome:HGNC:9784 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; GTP-dependent protein binding activity; and GTPase activity. Involved in antigen processing and presentation and plasma membrane to endosome transport. Located in endosome and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 35.5), esophagus (RPKM 35.2) and 25 other tissues See more Orthologs mouse all
RAB5C, Official Symbol RAB5Cprovided by HGNC Official Full Name RAB5C, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9785 See related Ensembl:ENSG00000108774 MIM:604037; AllianceGenome:HGNC:9785 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 RABL; L1880; RAB5L; RAB5CL Summary Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 55.2), bone marrow (RPKM 47.2) and 25 other tissues See more Orthologs mouse all
RAB5C-AS1, Official Symbol RAB5C-AS1provided by HGNC Official Full Name RAB5C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55289 See related AllianceGenome:HGNC:55289 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 Low expression observed in reference dataset See more
RAB5CP1, Official Symbol RAB5CP1provided by HGNC Official Full Name RAB5C, member RAS oncogene family pseudogene 1provided by HGNC Primary source HGNC:HGNC:45104 See related AllianceGenome:HGNC:45104 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB5CP2, Official Symbol RAB5CP2provided by HGNC Official Full Name RAB5C, member RAS oncogene family pseudogene 2provided by HGNC Primary source HGNC:HGNC:45106 See related AllianceGenome:HGNC:45106 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB5IF, Official Symbol RAB5IFprovided by HGNC Official Full Name RAB5 interacting factorprovided by HGNC Primary source HGNC:HGNC:15870 See related Ensembl:ENSG00000101084 MIM:619960; AllianceGenome:HGNC:15870 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 OPTI; RIP5; RCAF1; CFSMR2; PNAS-11; C20orf24 Summary Involved in mitochondrial respirasome assembly. Located in mitochondrial respirasome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 56.7), esophagus (RPKM 45.4) and 25 other tissues See more Orthologs mouse all
RAB6A, Official Symbol RAB6Aprovided by HGNC Official Full Name RAB6A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9786 See related Ensembl:ENSG00000175582 MIM:179513; AllianceGenome:HGNC:9786 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 RAB6 Summary This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 87.2), thyroid (RPKM 53.8) and 25 other tissues See more Orthologs mouse all
RAB6B, Official Symbol RAB6Bprovided by HGNC Official Full Name RAB6B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:14902 See related Ensembl:ENSG00000154917 MIM:615852; AllianceGenome:HGNC:14902 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 myosin V binding activity. Predicted to be involved in Golgi vesicle transport; intracellular protein transport; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 76.4), heart (RPKM 6.6) and 1 other tissue See more Orthologs mouse all
RAB6C, Official Symbol RAB6Cprovided by HGNC Official Full Name RAB6C, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:16525 See related Ensembl:ENSG00000222014 MIM:612909; AllianceGenome:HGNC:16525 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 WTH3 Summary Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in Golgi apparatus and centrosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
RAB6C-AS1, Official Symbol RAB6C-AS1provided by HGNC Official Full Name RAB6C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49278 See related Ensembl:ENSG00000290615 AllianceGenome:HGNC:49278 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 prostate (RPKM 2.5), brain (RPKM 2.3) and 24 other tissues See more
RAB6D, Official Symbol RAB6Dprovided by HGNC Official Full Name RAB6D, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:30272 See related Ensembl:ENSG00000233087 AllianceGenome:HGNC:30272 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 RAB6CL; WTH3DI Summary Predicted to enable GTPase activity. Predicted to be involved in Golgi vesicle transport; intracellular protein transport; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
RAB7A, Official Symbol RAB7Aprovided by HGNC Official Full Name RAB7A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9788 See related Ensembl:ENSG00000075785 MIM:602298; AllianceGenome:HGNC:9788 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 RAB7; CMT2B; PRO2706 Summary RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 104.7), fat (RPKM 97.2) and 25 other tissues See more Orthologs mouse all
RAB7B, Official Symbol RAB7Bprovided by HGNC Official Full Name RAB7B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:30513 See related Ensembl:ENSG00000276600 AllianceGenome:HGNC:30513 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 RAB7 Summary Predicted to enable GTP binding activity and GTPase activity. Involved in late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; and regulation of gene expression. Located in cytoplasmic vesicle; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 15.7), gall bladder (RPKM 6.5) and 20 other tissues See more Orthologs mouse all
RAB8A, Official Symbol RAB8Aprovided by HGNC Official Full Name RAB8A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:7007 See related Ensembl:ENSG00000167461 MIM:165040; AllianceGenome:HGNC:7007 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 MEL; RAB8 Summary The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 24.4), duodenum (RPKM 22.8) and 25 other tissues See more Orthologs mouse all
RAB8B, Official Symbol RAB8Bprovided by HGNC Official Full Name RAB8B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:30273 See related Ensembl:ENSG00000166128 MIM:613532; AllianceGenome:HGNC:30273 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 RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues See more Orthologs mouse all