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)
End	38,139,175 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	64,508,829 bp
RNA expression pattern
	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
	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
	23216
	57915
	ENSG00000065882
	ENSMUSG00000029174
	Q86TI0
	Q60949
NM_001253912; NM_001253913; NM_001253914; NM_001253915; NM_015173;
	NM_001396959
	NM_001289514; NM_019636; NM_001310611
	NP_001240841; NP_001240842; NP_001240843; NP_001240844; NP_055988
	NP_001276443; NP_001297540; NP_062610
	Wikidata
View/Edit Human	View/Edit Mouse

TBC1 domain family member 1 is a protein that in humans is encoded by the TBC1D1 gene.⁵⁶

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), yeast Bub2, and CDC16 (White et al., 2000).[supplied by OMIM]⁶

References

GRCh38: Ensembl release 89: ENSG00000065882 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000029174 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000065882 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10965142-5] 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.

[entrez-6] "Entrez Gene: TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1".

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