Aliases for IGF1 Gene
External Ids for IGF1 Gene
Previous GeneCards Identifiers for IGF1 Gene
The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
GeneCards Summary for IGF1 Gene
IGF1 (Insulin-Like Growth Factor 1 (Somatomedin C)) is a Protein Coding gene. Diseases associated with IGF1 include growth retardation with deafness and mental retardation due to igf1 deficiency and slipped capital femoral epiphysis. Among its related pathways are PI3K-Akt signaling pathway and Glioma. GO annotations related to this gene include growth factor activity and integrin binding. An important paralog of this gene is IGF2.
UniProtKB/Swiss-Prot for IGF1 Gene
The 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.
Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin and in adults, mediate an increase in glucose uptake through upregulation of Glut4 expression. Two isoforms of the IR exist; fetal IR-A and adult IR-B. IGF1R homodimers are activated by IGF-I and IGF-II and mediate pre- and postnatal growth. IGF2R sequesters IGF-II and acts to regulate its levels. IR-IGF1R heterodimers exist and, like IGF1R homodimers, are activated by IGF-I and IGF-II. IRs and IGFRs mediate their intracellular actions through the PI 3-K and RAS/RAF/MAPK signaling pathways and downstream effectors include mTOR, p70 S6 kinase, ERK and JNK. Many tumors have altered expression of IGF1R and its ligands and this constitutes an early, possible initiating, event in tumorigenesis. Decreases in IR signaling causing insulin resistance is a major component in the development of type 2 diabetes and congenital mutations in the IR can cause the fatal Donohue syndrome.