TBC1D1

Protein-coding gene in the species Homo sapiens
TBC1D1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3QYE

Identifiers
AliasesTBC1D1, TBC, TBC1, TBC1 domain family member 1
External IDsOMIM: 609850; MGI: 1889508; HomoloGene: 56856; GeneCards: TBC1D1; OMA:TBC1D1 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for TBC1D1
Genomic location for TBC1D1
Band4p14Start37,891,084 bp[1]
End38,139,175 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for TBC1D1
Genomic location for TBC1D1
Band5 C3.1|5 32.8 cMStart64,313,648 bp[2]
End64,508,829 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 64.31 – 64.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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), yeast Bub2, and CDC16 (White et al., 2000).[supplied by OMIM][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000065882 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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