GeneID: 313


Common Name: TBC1D1 Type: Gene
Chromosome: 4 (NC_000004.12) Locus: NM_015173.4 (TBC1D1)
HUGO Symbol: TBC1D1 Full Name: TBC1 domain family member 1
Exons: 20 Introns: 19

The TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 gene, known as TBC1D1, is the founding member of a family of proteins sharing the TBC box motif of 180 to 200-amino acids. TBC1D1 contains two phosphotyrosine-binding (PTB) domains at its NH2-terminus, a Rab-GAP (GTPase-activating protein) domain (TBC domain) near the COOH-terminus, and a putative calmodulin-binding domain. TBC1D1 is mainly expressed in skeletal muscle. It serves as a link between signaling and GLUT4 trafficking pathways, and plays a role in growth and fat deposition. The activation of calcium/calmodulin-dependent protein kinase II (CaMKII) may play a role in the induction and development of neurogenic inflammatory and neuropathic pain. Genetic variance in TBC1D1 gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: TBC , TBC1


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Witczak CA, Jessen N, Warro DM, Toyoda T, Fujii N, Anderson ME, Hirshman MF, Goodyear LJ, CaMKII regulates contraction- but not insulin-induced glucose uptake in mouse skeletal muscle., Am. J. Physiol. Endocrinol. Metab., 298(6), E1150-60, 2010 PubMed
  2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
  3. Fontanesi L, Bertolini F, The TBC1D1 gene: structure, function, and association with obesity and related traits., Vitam. Horm., 91(0), 77-95, 2013 PubMed
Created on 2019-11-26 16:57:16, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.