Description: Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA. RefSeq Summary (NM_001111285): 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. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]. Transcript (Including UTRs) Position: hg19 chr12:102,811,454-102,874,378 Size: 62,925 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr12:102,811,596-102,874,159 Size: 62,564 Coding Exon Count: 4
ID:IGF1_HUMAN DESCRIPTION: RecName: Full=Insulin-like growth factor I; Short=IGF-I; AltName: Full=Mechano growth factor; Short=MGF; AltName: Full=Somatomedin-C; Flags: Precursor; FUNCTION: 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. SUBCELLULAR LOCATION: Secreted. DISEASE: Defects in IGF1 are the cause of insulin-like growth factor I deficiency (IGF1 deficiency) [MIM:608747]. IGF1 deficiency is an autosomal recessive disorder characterized by growth retardation, sensorineural deafness and mental retardation. SIMILARITY: Belongs to the insulin family. SEQUENCE CAUTION: Sequence=CAA27250.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=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 RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igf1/"; WEB RESOURCE: Name=Wikipedia; Note=Insulin-like growth factor 1 entry; URL="http://en.wikipedia.org/wiki/Insulin-like_growth_factor_1";
Cathrine Hoyo , et al. Journal of the National Medical Association 2009 101(7):711-6, Predictors of variation in serum IGF1 and IGFBP3 levels in healthy African American and white men., Journal of the National Medical Association 2009 101(7):711-6.
[PubMed 19634593]
If successfully replicated in larger studies, these findings would add to recent evidence, suggesting known genetic and lifestyle chronic disease risk factors influence IGF1 and IGFBP3 circulating levels differently in African Americans and whites.
Birth Weight Vera A A van Houten , et al. European journal of endocrinology 2008 159(3):209-16, A variant of the IGF-I gene is associated with blood pressure but not with left heart dimensions at the age of 2 years: the Generation R Study., European journal of endocrinology 2008 159(3):209-16.
[PubMed 18544576]
body height Rietveld, I. et al. 2004, A polymorphic CA repeat in the IGF-I gene is associated with gender-specific differences in body height, but has no effect on the secular trend in body height., Clinical endocrinology. 2004 Aug;61(2):195-203.
[PubMed 15272914]
In conclusion, we observed an optimum in IGF-I levels and final body height for the 192-bp and 194-bp allele of the IGF-I gene. A gender-specific effect of the IGF-I alleles on body height was observed. The secular trend in body height observed in our elderly Dutch population was similar for the different genotypes; carriers of the 192-bp and/or the 194-bp allele remained significantly taller throughout time.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P05019
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000187 activation of MAPK activity GO:0001501 skeletal system development GO:0001775 cell activation GO:0002576 platelet degranulation GO:0007165 signal transduction GO:0007265 Ras protein signal transduction GO:0007517 muscle organ development GO:0008283 cell proliferation GO:0008284 positive regulation of cell proliferation GO:0009408 response to heat GO:0009441 glycolate metabolic process GO:0010468 regulation of gene expression GO:0010469 regulation of receptor activity GO:0010560 positive regulation of glycoprotein biosynthetic process GO:0010613 positive regulation of cardiac muscle hypertrophy GO:0010628 positive regulation of gene expression GO:0014065 phosphatidylinositol 3-kinase signaling GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014834 skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration GO:0014896 muscle hypertrophy GO:0014904 myotube cell development GO:0014911 positive regulation of smooth muscle cell migration GO:0030166 proteoglycan biosynthetic process GO:0030335 positive regulation of cell migration GO:0032148 activation of protein kinase B activity GO:0033160 positive regulation of protein import into nucleus, translocation GO:0034392 negative regulation of smooth muscle cell apoptotic process GO:0035630 bone mineralization involved in bone maturation GO:0040014 regulation of multicellular organism growth GO:0042104 positive regulation of activated T cell proliferation GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein GO:0043066 negative regulation of apoptotic process GO:0043388 positive regulation of DNA binding GO:0043410 positive regulation of MAPK cascade GO:0043491 protein kinase B signaling GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway GO:0044267 cellular protein metabolic process GO:0045445 myoblast differentiation GO:0045669 positive regulation of osteoblast differentiation GO:0045725 positive regulation of glycogen biosynthetic process GO:0045821 positive regulation of glycolytic process GO:0045840 positive regulation of mitotic nuclear division GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046326 positive regulation of glucose import GO:0046579 positive regulation of Ras protein signal transduction GO:0048009 insulin-like growth factor receptor signaling pathway GO:0048015 phosphatidylinositol-mediated signaling GO:0048146 positive regulation of fibroblast proliferation GO:0048661 positive regulation of smooth muscle cell proliferation GO:0050679 positive regulation of epithelial cell proliferation GO:0050714 positive regulation of protein secretion GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation GO:0050821 protein stabilization GO:0051450 myoblast proliferation GO:0060283 negative regulation of oocyte development GO:0061051 positive regulation of cell growth involved in cardiac muscle cell development GO:0070371 ERK1 and ERK2 cascade GO:0070886 positive regulation of calcineurin-NFAT signaling cascade GO:0090201 negative regulation of release of cytochrome c from mitochondria GO:1904075 positive regulation of trophectodermal cell proliferation GO:1904646 cellular response to beta-amyloid GO:1904707 positive regulation of vascular smooth muscle cell proliferation GO:1905460 negative regulation of vascular associated smooth muscle cell apoptotic process GO:2000679 positive regulation of transcription regulatory region DNA binding GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
BioCarta from NCI Cancer Genome Anatomy Project h_badPathway - Regulation of BAD phosphorylation h_igf1Pathway - IGF-1 Signaling Pathway h_erythPathway - Erythrocyte Differentiation Pathway h_ghrelinPathway - Ghrelin: Regulation of Food Intake and Energy Homeostasis h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart) h_longevityPathway - The IGF-1 Receptor and Longevity
Reactome (by CSHL, EBI, and GO)
Protein P05019 (Reactome details) participates in the following event(s):
R-HSA-381412 IGFBP2 binds IGF forming IGF:IGFBP2 R-HSA-381487 IGFBP1 binds IGF forming IGF:IGFBP1 R-HSA-381496 Formation of the IGF:IGFBP3:ALS complex R-HSA-381503 IGFBP6 binds IGF forming IGF:IGFBP6 R-HSA-381543 IGFBP4 binds IGF forming IGF:IGFBP4 R-HSA-381545 Formation of the IGF:IGFBP5:ALS complex R-HSA-2404200 IGF1,2 binds IGF1R R-HSA-381435 Matrix metalloproteinase proteolyzes IGF:IGFBP3:ALS R-HSA-381446 Thrombin proteolyzes IGF:IGFBP3:ALS R-HSA-381461 Plasmin proteolyzes IGF:IGFBP-3:ALS R-HSA-381466 Prostate-specific Antigen proteolyzes IGF:IGFBP3:ALS R-HSA-381500 Cathepsin G proteolyzes IGF:IGFBP3:ALS R-HSA-381518 PAAP-A proteolyzes IGF:IGFBP4 R-HSA-381537 PAPP-A2 proteolyzes IGF:IGFBP5:ALS R-HSA-481007 Exocytosis of platelet alpha granule contents R-HSA-2404199 IGF1,2:IGF1R autophosphorylates R-HSA-2404195 IGF1,2:p-Y1161,1165,1166-IGF1R binds SHC1 R-HSA-2428922 IGF1,2:p-Y1161,1165,1166-IGF1R binds IRS2 R-HSA-2428930 IGF1,2:p-Y1161,1165,1166-IGF1R binds IRS1,4 R-HSA-5686072 p-3Y-SHC1 dissociates from IGF1R R-HSA-2404193 IGF1R phosphorylates SHC1 R-HSA-2428926 IGF1,2:p-Y1161,1165,1166-IGF1R phosphorylates IRS1,2,4 R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) R-HSA-114608 Platelet degranulation R-HSA-2428933 SHC-related events triggered by IGF1R R-HSA-2428928 IRS-related events triggered by IGF1R R-HSA-392499 Metabolism of proteins R-HSA-9006934 Signaling by Receptor Tyrosine Kinases R-HSA-76005 Response to elevated platelet cytosolic Ca2+ R-HSA-2428924 IGF1R signaling cascade R-HSA-162582 Signal Transduction R-HSA-76002 Platelet activation, signaling and aggregation R-HSA-109582 Hemostasis
US Server
