MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001585

UniProt Annotations

Entry Information
Gene Nameinsulin-like growth factor 1 (somatomedin C)
Protein Entry
UniProt IDQ13429
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=IGF-IB; IsoId=P05019-1; Sequence=Displayed; Name=2; Synonyms=IGF-IA; IsoId=P05019-2; Sequence=VSP_039637; Name=3; IsoId=P05019-3; Sequence=VSP_043317, VSP_039637; Note=Expressed in liver.; Name=4; IsoId=P05019-4; Sequence=VSP_047399; Note=Gene prediction based on EST data.;
DiseaseInsulin-like growth factor I deficiency (IGF1 deficiency) [MIM:608747]: Autosomal recessive disorder characterized by growth retardation, sensorineural deafness and mental retardation. {ECO:0000269|PubMed:8857020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in rat bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation. {ECO:0000269|PubMed:21076856, ECO:0000269|PubMed:24132240}.
InteractionP08069:IGF1R; NbExp=5; IntAct=EBI-7902275, EBI-475981; P06213:INSR; NbExp=4; IntAct=EBI-7902275, EBI-475899;
Sequence CautionSequence=CAA27250.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the insulin family. {ECO:0000305}.
Subcellular LocationSecreted.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igf1/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HLA-DQB1";
Web ResourceName=Wikipedia; Note=Insulin-like growth factor 1 entry; URL="http://en.wikipedia.org/wiki/Insulin-like_growth_factor_1";
  logo