GeneID: 61



Names

Common Name: IGF1R Type: Gene
Chromosome: 15 (NC_000015.10) Locus: NG_009492.1 (IGF1R)
HUGO Symbol: IGF1R Full Name: insulin like growth factor 1 receptor
Exons: 21 Introns: 20

Description:
IGFR1 is a transmembrane receptor tyrosine kinase involved in the insulin-like growth factor (IGF) signalling pathway, which plays a key role in normal growth and development. It is a tetrameric complex composed of two α- and two β-subunits linked together by disulphide bonds. The α-subunits are extracellular and involved in ligand binding, while the β-subunits also contain a cytoplasmic region, which includes the tyrosine kinase domain. Insulin and the structurally-related IGFs are ligands that bind to and activate the IGF1R, leading to tyrosine phosphorylation within the kinase domain and activation of downstream signalling pathways, which are involved in many important regulatory functions, including cell growth, differentiation, migration, and survival. Polymorphisms in this gene associated with bacteremia in sickle cell patients. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Synonyms: IGFR , CD221 , IGFIR , JTK13

Comments:
N/A

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Publications / Origin

  1. Adewoye AH, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH, Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia., Clin. Infect. Dis. , 43(5), 593-8, 2006 PubMed
  2. Kavran JM, McCabe JM, Byrne PO, Connacher MK, Wang Z, Ramek A, Sarabipour S, Shan Y, Shaw DE, Hristova K, Cole PA, Leahy DJ, How IGF-1 activates its receptor., Elife , 3(0), , 2014 PubMed
Created on 2016-04-26 10:42:08, Last reviewed on (Show full history)


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