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
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p14 Start 37,891,084 bp [1] End 38,139,175 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 C3.1|5 32.8 cM Start 64,313,648 bp [2] End 64,508,829 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery ganglionic eminence popliteal artery gastric mucosa left coronary artery ascending aorta myometrium right lobe of thyroid gland left lobe of thyroid gland left uterine tube Top expressed in spermatocyte retinal pigment epithelium secondary oocyte spermatid plantaris muscle tibialis anterior muscle yolk sac ankle extensor digitorum longus muscle seminiferous tubule 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

TBC1 domain family member 1 is a protein that in humans is encoded by the TBC1D1 gene. ^{[5] [6]}

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] ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000065882 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029174 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. White RA, Pasztor LM, Richardson PM, Zon LI (Sep 2000). "The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4". Cytogenet Cell Genet. 89 (3–4): 272–5. doi:10.1159/000015632. PMID   10965142. S2CID   22255963.
6. "Entrez Gene: TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1".

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. S2CID   7200157.
• 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. S2CID   2371325.
• 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. Bibcode:2002PNAS...9916899M. 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.