TBC1D1

TBC1D1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3QYE
Identifiers
Aliases	TBC1D1, TBC, TBC1, TBC1 domain family member 1
External IDs	OMIM: 609850; MGI: 1889508; HomoloGene: 56856; GeneCards: TBC1D1; OMA:TBC1D1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4p14 Start 37,891,084 bp End 38,139,175 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 C3.1|5 32.8 cM Start 64,313,648 bp End 64,508,829 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone body of uterus muscle layer of sigmoid colon right coronary artery ganglionic eminence popliteal artery tibial arteries gastric mucosa left coronary artery ascending aorta Top expressed in muscle of thigh spermatocyte zygote retinal pigment epithelium choroid plexus of fourth ventricle granulocyte secondary oocyte right kidney spermatid plantaris muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding GTPase activator activity Cellular component cytosol nucleus endomembrane system intracellular anatomical structure Biological process regulation of cilium assembly membrane organization regulation of protein localization activation of GTPase activity regulation of vesicle fusion intracellular protein transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23216 57915 Ensembl ENSG00000065882 ENSMUSG00000029174 UniProt Q86TI0 Q60949 RefSeq (mRNA) NM_001253912 NM_001253913 NM_001253914 NM_001253915 NM_015173 NM_001396959 NM_001289514 NM_019636 NM_001310611 RefSeq (protein) NP_001240841 NP_001240842 NP_001240843 NP_001240844 NP_055988 NP_001276443 NP_001297540 NP_062610 Location (UCSC) Chr 4: 37.89 – 38.14 Mb Chr 5: 64.31 – 64.51 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

TBC1 domain family member 1 is a protein that in humans is encoded by the TBC1D1 gene.

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 cell differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000).[supplied by OMIM]

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Roach WG, Chavez JA, Mîinea CP, Lienhard GE (2007). "Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1". Biochem. J. 403 (2): 353–8. doi:10.1042/BJ20061798. PMC 1874243. PMID 17274760.
• Stone S, Abkevich V, Russell DL, et al. (2006). "TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition". Hum. Mol. Genet. 15 (18): 2709–20. doi:10.1093/hmg/ddl204. PMID 16893906.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.