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FLASH GENE
Symbol IGF1 contributors: mct/npt/pgu/shn - updated : 19-07-2013
HGNC name insulin-like growth factor 1 (somatomedin C)
HGNC id 5464
RNA
TRANSCRIPTS type messenger
text a complex exon-intron structure and possess multiple promoters
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 7321 17 153 - 2009 19634593
  • also called transcript variant 4, IA
  • 4 splicing 949 21 195 - 2009 19634593
    also called transcript variant 3, IB
    4 splicing 7204 11.7 137 - 2009 19634593
    also called transcript variant 2, IIA
    5 splicing 7370 12.43 158 - 2009 19634593
    also called transcript variant 1, IC
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Hearing/Equilibriumear   highly
    Olfactory (smell)olfactory bulb     Homo sapiens
    Reproductivefemale systemuterus   
     male systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Olfactoryolfactory receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text fetal growth of all tissues, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extended C terminus
  • isoforms Precursor
    HOMOLOGY
    interspecies ortholog to Igf1, Mus musculus
    ortholog to igf1, Danio rerio
    ortholog to Igf1, Rattus norvegicus
    ortholog to IGF1, Pan troglodytes
    Homologene
    FAMILY
  • insulin family
  • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • SYT10 colocalized with IGF1 in somatodendritic vesicles of olfactory bulb neurons
  • basic FUNCTION
  • insulin-like growth factor 1, inducer of the phosphatidylinositol 3-kinase survival pathway through activation of AKT1, AKT2
  • associated with increased BCL2 expression
  • also inducer of calcineurin mediated signaling and activation of GATA2
  • inducing myoblast differentiation, in part, by increasing SOCS3 expression
  • potent mitogen for both normal and malignant prostate epithelial cells
  • important regulator of cell proliferation, differentiation and apoptosis
  • role in the polarization of hippocampal neurons
  • may have specific roles in axonal growth and myelination
  • circulating IGF-I may play a role in the age-related reduction of certain cognitive functions
  • IGF-I is a physiological regulator of brain amyloid levels
  • can reverse vascular endothelial cells arrested at G0/G1
  • IGF1 and epidermal growth factor (EGF) play important roles in the regulation of cell metabolism in response to different internal as well as external stimuli
  • may play a role in the function of the endocrine pancreas and in the pathogenesis of the diabetes mellitus
  • required for purkinje cells survival in the neonatal cerebellum
  • GH1/IGF1 is likely to play an important role in the regulation of tendon and muscle collagen
  • GH1/IGF1 axis is the key regulator of somatic growth
  • IGF1 and IGFBP2 function coordinately to stimulate AKT1 and osteoblast differentiation
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    cell life, cell death/apoptosis
    cell communication
    PHYSIOLOGICAL PROCESS development
    text regulation, development : muscle, skeletal
    PATHWAY
    metabolism organic acid
    signaling signal transduction
    a component
  • majority of circulating IGF1 is bound in a complex with IGF binding protein-3 (IGFBP3), which in turn limits IGF1 bio-availability
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • upregulating K+ channels (Kus/KCNs) via PI3 kinase, PDK1, SGK1
  • SOCS3
  • GFBP-rP3 (
  • IGFBP-1, IGFBP-2, IGFBP-3, IGFBP-4, IGFBP-5, IGFBP-6, IGFBP-7 (
  • fibronectin (FN)
  • Transferin (Tf)
  • SYT10 is a vesicular Ca2+-sensor for IGF1 containing vesicles that mediates rapid activity-dependent secretion of IGF1
  • reciprocal functional interaction between RELA and IGF1 in which the transcription factor modulates both IGF1 synthesis and action in growth plate chondrocytes
  • IGF1 system regulates GPER1 expression and function, triggering the activation of a signaling network that leads to the migration and proliferation of cancer cells
  • necessary for normal postnatal growth and enhances the expression of local bone IGF1 expression
  • IGF1 induced MUC8 and MUC5B expression is regulated by activation of the ERK1 and MAPK14 signaling pathway in human airway epithelial cells
  • regulates MSTN expression via CREB1 transcription factor during muscle cell differentiation
  • PPARA controls IGF1 signalling through the up-regulation of hepatic IGFBP2 transcription during fasting
  • early induction of AMPK in response to IGF1/IGFBP2 followed by suppression is required for osteoblast differentiation
  • MEF2D regulates IGF1-induced proliferation and apoptosis in cardiac myxoma (CM) development
  • IGFBP2/IGF1 stimulated vimentin binding to PTPRZ1 and this was required for PTPRZ1 polymerization
  • cell & other
    REGULATION
    inhibited by TNF in its neuroprotective role
    ASSOCIATED DISORDERS
    corresponding disease(s) IGF1D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    homozygous deletion in intrauterine growth retardation and severe short stature
    Susceptibility
  • to type 2 diabetes, myocardial infarction and low birthweight
  • to breast cancer
  • to prostate cancer
  • to adult height variation
  • Variant & Polymorphism repeat , other
  • polymorphism 192-bp allele
  • variant increasing the risk of breast cancer
  • 19-CA-repeat homozygous state may be protecting against prostate cancer
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    IGF-I is a physiological regulator of brain amyloid levels with therapeutic potential
    neurosensorialvisualretina
    IGF-I seems to protect neural cells following a physiopathological or an experimental increase in intracellular Ca(2+), an observation that may have therapeutic consequences in neurodegenerative diseases such as retinitis pigmentosa
    tumor  
    IGF1-MEF2D pathway may be a useful target for treatment of cardiac myxoma
    ANIMAL & CELL MODELS
  • Newborn mice with IgfI null mutation exhibit a growth deficiency die shortly after birt or can each adulthood (
  • mice with severe IGF-1 deficiency display elevated blood pressure and enhanced myocardial contractility (
  • profound embryonic and postnatal growth retardation in IGF1 knockout mice
  • normoglycemic/normoinsulinemic transgenic mice overexpressing IGF-1 in the retina developed most alterations observed in human diabetic eye disease (
  • mice lacking both Insr and Ifg1r developed diabetes in contrast to mild phenotypes observed in single mutants
  • IGF1 knockout mice have defects in neurologic development
  • IGF1 decreased photoreceptor apoptosis in rd1 mouse retinal explants in parallel with reduced activation of calpain-2 and increased levels of calpastatin and activation of phospho-CREB (