psui3905/ncbi_genes_summary huggingface dataset:
TAX1BP3, Official Symbol TAX1BP3provided by HGNC Official Full Name Tax1 binding protein 3provided by HGNC Primary source HGNC:HGNC:30684 See related Ensembl:ENSG00000213977 MIM:616484; AllianceGenome:HGNC:30684 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 TIP1; TIP-1 Summary This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in stomach (RPKM 62.9), endometrium (RPKM 61.2) and 25 other tissues See more Orthologs mouse all
TBATA, Official Symbol TBATAprovided by HGNC Official Full Name thymus, brain and testes associatedprovided by HGNC Primary source HGNC:HGNC:23511 See related Ensembl:ENSG00000166220 MIM:612640; AllianceGenome:HGNC:23511 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 SPATIAL; C10orf27 Summary This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Restricted expression toward testis (RPKM 6.9) See more Orthologs mouse all
TBC1D1, Official Symbol TBC1D1provided by HGNC Official Full Name TBC1 domain family member 1provided by HGNC Primary source HGNC:HGNC:11578 See related Ensembl:ENSG00000065882 MIM:609850; AllianceGenome:HGNC:11578 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 TBC; TBC1 Summary TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in endometrium (RPKM 22.4), kidney (RPKM 18.2) and 24 other tissues See more Orthologs mouse all
TBC1D10A, Official Symbol TBC1D10Aprovided by HGNC Official Full Name TBC1 domain family member 10Aprovided by HGNC Primary source HGNC:HGNC:23609 See related Ensembl:ENSG00000099992 MIM:610020; AllianceGenome:HGNC:23609 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 EPI64; TBC1D10; dJ130H16.1; dJ130H16.2 Summary Enables PDZ domain binding activity. Involved in activation of cysteine-type endopeptidase activity and retrograde transport, endosome to Golgi. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 13.6), placenta (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
TBC1D10B, Official Symbol TBC1D10Bprovided by HGNC Official Full Name TBC1 domain family member 10Bprovided by HGNC Primary source HGNC:HGNC:24510 See related Ensembl:ENSG00000169221 MIM:613620; AllianceGenome:HGNC:24510 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 EPI64B; FP2461 Summary Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in testis (RPKM 19.6), brain (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
TBC1D10C, Official Symbol TBC1D10Cprovided by HGNC Official Full Name TBC1 domain family member 10Cprovided by HGNC Primary source HGNC:HGNC:24702 See related Ensembl:ENSG00000175463 MIM:610831; AllianceGenome:HGNC:24702 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 EPI64C; CARABIN Summary The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] Expression Biased expression in lymph node (RPKM 27.2), spleen (RPKM 25.6) and 10 other tissues See more Orthologs mouse all
TBC1D12, Official Symbol TBC1D12provided by HGNC Official Full Name TBC1 domain family member 12provided by HGNC Primary source HGNC:HGNC:29082 See related Ensembl:ENSG00000108239 MIM:620003; AllianceGenome:HGNC:29082 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 activator activity. Predicted to be involved in activation of GTPase activity; intracellular protein transport; and regulation of autophagosome assembly. Predicted to be active in autophagosome and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
TBC1D13, Official Symbol TBC1D13provided by HGNC Official Full Name TBC1 domain family member 13provided by HGNC Primary source HGNC:HGNC:25571 See related Ensembl:ENSG00000107021 MIM:616218; AllianceGenome:HGNC:25571 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 17.4), ovary (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
TBC1D14, Official Symbol TBC1D14provided by HGNC Official Full Name TBC1 domain family member 14provided by HGNC Primary source HGNC:HGNC:29246 See related Ensembl:ENSG00000132405 MIM:614855; AllianceGenome:HGNC:29246 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 protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in several cellular components, including Golgi apparatus; autophagosome; and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 20.3), brain (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
TBC1D15, Official Symbol TBC1D15provided by HGNC Official Full Name TBC1 domain family member 15provided by HGNC Primary source HGNC:HGNC:25694 See related Ensembl:ENSG00000121749 MIM:612662; AllianceGenome:HGNC:25694 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-GAP Summary This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in thyroid (RPKM 10.9), adrenal (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
TBC1D16, Official Symbol TBC1D16provided by HGNC Official Full Name TBC1 domain family member 16provided by HGNC Primary source HGNC:HGNC:28356 See related Ensembl:ENSG00000167291 MIM:616637; AllianceGenome:HGNC:28356 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 activator activity. Involved in regulation of receptor recycling. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 12.8), kidney (RPKM 8.0) and 23 other tissues See more Orthologs mouse all
TBC1D17, Official Symbol TBC1D17provided by HGNC Official Full Name TBC1 domain family member 17provided by HGNC Primary source HGNC:HGNC:25699 See related Ensembl:ENSG00000104946 MIM:616659; AllianceGenome:HGNC:25699 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 activator activity. Involved in retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 16.1), fat (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
TBC1D19, Official Symbol TBC1D19provided by HGNC Official Full Name TBC1 domain family member 19provided by HGNC Primary source HGNC:HGNC:25624 See related Ensembl:ENSG00000109680 AllianceGenome:HGNC:25624 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 activator activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 1.6), endometrium (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
TBC1D2, Official Symbol TBC1D2provided by HGNC Official Full Name TBC1 domain family member 2provided by HGNC Primary source HGNC:HGNC:18026 See related Ensembl:ENSG00000095383 MIM:609871; AllianceGenome:HGNC:18026 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 PARIS1; PARIS-1; TBC1D2A Summary Enables GTPase activator activity and cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 7.7), urinary bladder (RPKM 3.8) and 23 other tissues See more Orthologs mouse all
TBC1D20, Official Symbol TBC1D20provided by HGNC Official Full Name TBC1 domain family member 20provided by HGNC Primary source HGNC:HGNC:16133 See related Ensembl:ENSG00000125875 MIM:611663; AllianceGenome:HGNC:16133 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 WARBM4; C20orf140 Summary This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in lung (RPKM 14.1), thyroid (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
TBC1D21, Official Symbol TBC1D21provided by HGNC Official Full Name TBC1 domain family member 21provided by HGNC Primary source HGNC:HGNC:28536 See related Ensembl:ENSG00000167139 MIM:620387; AllianceGenome:HGNC:28536 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 MgcRabGAP Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 8.2) See more Orthologs mouse all
TBC1D22A, Official Symbol TBC1D22Aprovided by HGNC Official Full Name TBC1 domain family member 22Aprovided by HGNC Primary source HGNC:HGNC:1309 See related Ensembl:ENSG00000054611 MIM:616879; AllianceGenome:HGNC:1309 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 C22orf4; HSC79E021 Summary Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
TBC1D22A-AS1, Official Symbol TBC1D22A-AS1provided by HGNC Official Full Name TBC1D22A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51221 See related Ensembl:ENSG00000280080 AllianceGenome:HGNC:51221 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TBC1D22B, Official Symbol TBC1D22Bprovided by HGNC Official Full Name TBC1 domain family member 22Bprovided by HGNC Primary source HGNC:HGNC:21602 See related Ensembl:ENSG00000065491 MIM:616880; AllianceGenome:HGNC:21602 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 C6orf197 Summary Enables 14-3-3 protein binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
TBC1D23, Official Symbol TBC1D23provided by HGNC Official Full Name TBC1 domain family member 23provided by HGNC Primary source HGNC:HGNC:25622 See related Ensembl:ENSG00000036054 MIM:617687; AllianceGenome:HGNC:25622 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 PCH11; NS4ATP1 Summary Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. Colocalizes with WASH complex. Implicated in pontocerebellar hypoplasia. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 11.3), placenta (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
TBC1D24, Official Symbol TBC1D24provided by HGNC Official Full Name TBC1 domain family member 24provided by HGNC Primary source HGNC:HGNC:29203 See related Ensembl:ENSG00000162065 MIM:613577; AllianceGenome:HGNC:29203 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 EIM; FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC Summary This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
TBC1D25, Official Symbol TBC1D25provided by HGNC Official Full Name TBC1 domain family member 25provided by HGNC Primary source HGNC:HGNC:8092 See related Ensembl:ENSG00000068354 MIM:311240; AllianceGenome:HGNC:8092 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 MG81; OATL1 Summary This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 5.6), brain (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
TBC1D26, Official Symbol TBC1D26provided by HGNC Official Full Name TBC1 domain family member 26provided by HGNC Primary source HGNC:HGNC:28745 See related Ensembl:ENSG00000214946 AllianceGenome:HGNC:28745 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 8.9) See more Orthologs all
TBC1D28, Official Symbol TBC1D28provided by HGNC Official Full Name TBC1 domain family member 28provided by HGNC Primary source HGNC:HGNC:26858 See related Ensembl:ENSG00000189375 AllianceGenome:HGNC:26858 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.9) See more Orthologs all
TBC1D29P, Official Symbol TBC1D29Pprovided by HGNC Official Full Name TBC1 domain family member 29, pseudogeneprovided by HGNC Primary source HGNC:HGNC:24509 See related Ensembl:ENSG00000290404 AllianceGenome:HGNC:24509 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TBC1D29 Expression Restricted expression toward testis (RPKM 3.5) See more Orthologs all
TBC1D2B, Official Symbol TBC1D2Bprovided by HGNC Official Full Name TBC1 domain family member 2Bprovided by HGNC Primary source HGNC:HGNC:29183 See related Ensembl:ENSG00000167202 MIM:619152; AllianceGenome:HGNC:29183 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 NEDSGO Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 23.9), gall bladder (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
TBC1D3, Official Symbol TBC1D3provided by HGNC Official Full Name TBC1 domain family member 3provided by HGNC Primary source HGNC:HGNC:19031 See related Ensembl:ENSG00000274611 MIM:607741; AllianceGenome:HGNC:19031 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 PRC17; TBC1D3A; TBC1D3C; TBC1D3D; TBC1D3F; TBC1D3L Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: After build 36.3 (2008), NCBI noted that the annotation of TBC1D3 and TBC1D3F were incorrect. At that time geneID:729873 was renamed to TBC1D3 and geneID:84218 was renamed to TBC1D3F. [22 Apr 2009] Expression Broad expression in testis (RPKM 25.9), skin (RPKM 14.0) and 24 other tissues See more
TBC1D30, Official Symbol TBC1D30provided by HGNC Official Full Name TBC1 domain family member 30provided by HGNC Primary source HGNC:HGNC:29164 See related Ensembl:ENSG00000111490 MIM:615077; AllianceGenome:HGNC:29164 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 activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in ciliary basal body; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 3.2), salivary gland (RPKM 1.1) and 21 other tissues See more Orthologs mouse all
TBC1D31, Official Symbol TBC1D31provided by HGNC Official Full Name TBC1 domain family member 31provided by HGNC Primary source HGNC:HGNC:30888 See related Ensembl:ENSG00000156787 AllianceGenome:HGNC:30888 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 Gm85; WDR67 Summary Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.1), lymph node (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
TBC1D32, Official Symbol TBC1D32provided by HGNC Official Full Name TBC1 domain family member 32provided by HGNC Primary source HGNC:HGNC:21485 See related Ensembl:ENSG00000146350 MIM:615867; AllianceGenome:HGNC:21485 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 BROMI; C6orf170; C6orf171 Summary This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 1.8), skin (RPKM 0.8) and 23 other tissues See more Orthologs mouse all
TBC1D3B, Official Symbol TBC1D3Bprovided by HGNC Official Full Name TBC1 domain family member 3Bprovided by HGNC Primary source HGNC:HGNC:27011 See related Ensembl:ENSG00000274808 MIM:610144; AllianceGenome:HGNC:27011 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 PRC17; TBC1D3I; TBC1D3L Summary This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009] Expression Broad expression in testis (RPKM 19.5), skin (RPKM 8.9) and 23 other tissues See more Orthologs all
TBC1D3C, Official Symbol TBC1D3Cprovided by HGNC Official Full Name TBC1 domain family member 3Cprovided by HGNC Primary source HGNC:HGNC:24889 See related Ensembl:ENSG00000278299 MIM:610806; AllianceGenome:HGNC:24889 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 PRC17; TBC1D3; TBC1D3A; TBC1D3D Summary This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014] Expression Broad expression in testis (RPKM 17.2), skin (RPKM 10.9) and 24 other tissues See more
TBC1D3D, Official Symbol TBC1D3Dprovided by HGNC Official Full Name TBC1 domain family member 3Dprovided by HGNC Primary source HGNC:HGNC:28944 See related Ensembl:ENSG00000274419 MIM:610807; AllianceGenome:HGNC:28944 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 PRC17; TBC1D3; TBC1D3A; TBC1D3H Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.4), skin (RPKM 9.8) and 24 other tissues See more
TBC1D3E, Official Symbol TBC1D3Eprovided by HGNC Official Full Name TBC1 domain family member 3Eprovided by HGNC Primary source HGNC:HGNC:27071 See related Ensembl:ENSG00000278599 MIM:610808; AllianceGenome:HGNC:27071 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 PRC17; TBC1D3; TBC1D3A; TBC1DE3 Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 27.0), skin (RPKM 18.1) and 25 other tissues See more
TBC1D3F, Official Symbol TBC1D3Fprovided by HGNC Official Full Name TBC1 domain family member 3Fprovided by HGNC Primary source HGNC:HGNC:18257 See related Ensembl:ENSG00000275954 MIM:610809; AllianceGenome:HGNC:18257 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 TBC1D3; TBC1D3G Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Note: After build 36.3 (2008), NCBI noted that the annotation of TBC1D3 and TBC1D3F were incorrect. At that time geneID:729873 was renamed to TBC1D3 and geneID:84218 was renamed to TBC1D3F. [22 Apr 2009] Expression Broad expression in testis (RPKM 23.1), skin (RPKM 11.4) and 23 other tissues See more
TBC1D3G, Official Symbol TBC1D3Gprovided by HGNC Official Full Name TBC1 domain family member 3Gprovided by HGNC Primary source HGNC:HGNC:29860 See related Ensembl:ENSG00000260287 MIM:610810; AllianceGenome:HGNC:29860 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 TBC1D3C; TBC1D3D Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 17.3), skin (RPKM 10.0) and 23 other tissues See more
TBC1D3H, Official Symbol TBC1D3Hprovided by HGNC Official Full Name TBC1 domain family member 3Hprovided by HGNC Primary source HGNC:HGNC:30708 See related Ensembl:ENSG00000274226 MIM:610811; AllianceGenome:HGNC:30708 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 20.7), skin (RPKM 11.7) and 24 other tissues See more
TBC1D3I, Official Symbol TBC1D3Iprovided by HGNC Official Full Name TBC1 domain family member 3Iprovided by HGNC Primary source HGNC:HGNC:32709 See related Ensembl:ENSG00000274933 AllianceGenome:HGNC:32709 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 PRC17; TBC1D3; TBC1D3A Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 16.9), skin (RPKM 10.5) and 23 other tissues See more Orthologs all
TBC1D3K, Official Symbol TBC1D3Kprovided by HGNC Official Full Name TBC1 domain family member 3Kprovided by HGNC Primary source HGNC:HGNC:51245 See related Ensembl:ENSG00000273513 AllianceGenome:HGNC:51245 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.9), skin (RPKM 9.2) and 23 other tissues See more
TBC1D3L, Official Symbol TBC1D3Lprovided by HGNC Official Full Name TBC1 domain family member 3Lprovided by HGNC Primary source HGNC:HGNC:51246 See related Ensembl:ENSG00000274512 AllianceGenome:HGNC:51246 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 activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.8), skin (RPKM 9.9) and 24 other tissues See more
TBC1D3P1, Official Symbol TBC1D3P1provided by HGNC Official Full Name TBC1 domain family member 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:27445 See related Ensembl:ENSG00000238283 AllianceGenome:HGNC:27445 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TBC1D3P1-DHX40P1, Official Symbol TBC1D3P1-DHX40P1provided by HGNC Official Full Name TBC1D3P1-DHX40P1 readthrough, transcribed pseudogeneprovided by HGNC Primary source HGNC:HGNC:42362 See related Ensembl:ENSG00000267104 AllianceGenome:HGNC:42362 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHX40P; DHX40P1; TBC1D3P1 Summary This locus represents naturally-occurring readthrough transcription that extends through two unprocessed pseudogenes, TBC1D3P1 (TBC1 domain family member 3 pseudogene 1) and DHX40P1 (DEAH-box helicase 40 pseudogene 1), to protein-coding RNFT1 (ring finger protein, transmembrane 1). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript likely does not encode a functional protein, since translation of the long open reading frames would render the transcript a candidate for nonsense-mediated decay (NMD). [provided by RefSeq, Jan 2016] Expression Broad expression in testis (RPKM 23.8), thyroid (RPKM 6.2) and 24 other tissues See more
TBC1D3P3, Official Symbol TBC1D3P3provided by HGNC Official Full Name TBC1 domain family member 3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:32408 See related Ensembl:ENSG00000235203 AllianceGenome:HGNC:32408 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 USP6P1
TBC1D3P6, Official Symbol TBC1D3P6provided by HGNC Official Full Name TBC1 domain family member 3 pseudogene 6provided by HGNC Primary source HGNC:HGNC:43568 See related AllianceGenome:HGNC:43568 Gene type pseudo Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
TBC1D3P7, Official Symbol TBC1D3P7provided by HGNC Official Full Name TBC1 domain family member 3 pseudogene 7provided by HGNC Primary source HGNC:HGNC:43569 See related Ensembl:ENSG00000233014 AllianceGenome:HGNC:43569 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TBC1D4, Official Symbol TBC1D4provided by HGNC Official Full Name TBC1 domain family member 4provided by HGNC Primary source HGNC:HGNC:19165 See related Ensembl:ENSG00000136111 MIM:612465; AllianceGenome:HGNC:19165 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 AS160; NIDDM5 Summary This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 15.3) and 23 other tissues See more Orthologs mouse all
TBC1D5, Official Symbol TBC1D5provided by HGNC Official Full Name TBC1 domain family member 5provided by HGNC Primary source HGNC:HGNC:19166 See related Ensembl:ENSG00000131374 MIM:615740; AllianceGenome:HGNC:19166 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 AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; autophagosome; and endosome membrane. Part of retromer complex. Colocalizes with AP-2 adaptor complex and Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 11.6), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
TBC1D7, Official Symbol TBC1D7provided by HGNC Official Full Name TBC1 domain family member 7provided by HGNC Primary source HGNC:HGNC:21066 See related Ensembl:ENSG00000145979 MIM:612655; AllianceGenome:HGNC:21066 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 TBC7; MGCPH; PIG51 Summary This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
TBC1D8, Official Symbol TBC1D8provided by HGNC Official Full Name TBC1 domain family member 8provided by HGNC Primary source HGNC:HGNC:17791 See related Ensembl:ENSG00000204634 AllianceGenome:HGNC:17791 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 AD3; VRP; HBLP1; GRAMD8; TBC1D8A Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
TBC1D8-AS1, Official Symbol TBC1D8-AS1provided by HGNC Official Full Name TBC1D8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52782 See related Ensembl:ENSG00000272902 AllianceGenome:HGNC:52782 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
TBC1D8B, Official Symbol TBC1D8Bprovided by HGNC Official Full Name TBC1 domain family member 8Bprovided by HGNC Primary source HGNC:HGNC:24715 See related Ensembl:ENSG00000133138 MIM:301027; AllianceGenome:HGNC:24715 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 NPHS20; GRAMD8B Summary This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Broad expression in adrenal (RPKM 10.0), thyroid (RPKM 3.7) and 23 other tissues See more Orthologs mouse all
TBC1D9, Official Symbol TBC1D9provided by HGNC Official Full Name TBC1 domain family member 9provided by HGNC Primary source HGNC:HGNC:21710 See related Ensembl:ENSG00000109436 MIM:618035; AllianceGenome:HGNC:21710 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 MDR1; GRAMD9 Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 19.8), brain (RPKM 12.2) and 23 other tissues See more Orthologs mouse all
TBC1D9B, Official Symbol TBC1D9Bprovided by HGNC Official Full Name TBC1 domain family member 9Bprovided by HGNC Primary source HGNC:HGNC:29097 See related Ensembl:ENSG00000197226 MIM:618039; AllianceGenome:HGNC:29097 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 GRAMD9B Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 32.0), thyroid (RPKM 25.0) and 25 other tissues See more Orthologs mouse all
TBCA, Official Symbol TBCAprovided by HGNC Official Full Name tubulin folding cofactor Aprovided by HGNC Primary source HGNC:HGNC:11579 See related Ensembl:ENSG00000171530 MIM:610058; AllianceGenome:HGNC:11579 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 product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in adrenal (RPKM 23.9), kidney (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
TBCB, Official Symbol TBCBprovided by HGNC Official Full Name tubulin folding cofactor Bprovided by HGNC Primary source HGNC:HGNC:1989 See related Ensembl:ENSG00000105254 MIM:601303; AllianceGenome:HGNC:1989 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 CG22; CKAP1; CKAPI Summary Predicted to be involved in cell differentiation and nervous system development. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 13.9) and 25 other tissues See more Orthologs mouse all