Format

Send to:

Choose Destination
    • Showing Current items.

    IGF1 insulin like growth factor 1 [ Homo sapiens (human) ]

    Gene ID: 3479, updated on 28-Jun-2020

    Summary

    Official Symbol
    IGF1provided by HGNC
    Official Full Name
    insulin like growth factor 1provided by HGNC
    Primary source
    HGNC:HGNC:5464
    See related
    Ensembl:ENSG00000017427 MIM:147440
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGF; MGF; IGFI; IGF-I
    Summary
    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]
    Expression
    Broad expression in endometrium (RPKM 7.0), fat (RPKM 6.3) and 18 other tissues See more
    Orthologs

    Genomic context

    See IGF1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (102395860..102481839, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102789645..102875563, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene reticulon 3 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 793, pseudogene Neighboring gene long intergenic non-protein coding RNA 2456 Neighboring gene uncharacterized LOC105369944 Neighboring gene long intergenic non-protein coding RNA 485

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Growth delay due to insulin-like growth factor type 1 deficiency
    MedGen: C1837475 OMIM: 608747 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    NHGRI GWA Catalog
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    NHGRI GWA Catalog
    Identification of 15 loci influencing height in a Korean population.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Insulin-like growth factor-I (IGF-I) and erythropoietin treatment protect against HIV/gp120-mediated neuronal damage in culture and in vivo, in part, through cooperative activation of phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling PubMed
    env The fusion of insulin-like growth factor I (IGF I) with stromal cell-derived factor I or alpha1 proteinase inhibitor has the capacity to compete with the binding of HIV-1 gp120 to CD4 receptor PubMed
    Tat tat HIV-1 Tat upregulates several anti-apoptotic genes, including AKT-1, AKT-2, BCL2, BCL-XL, and insulin-like growth factor I in vincristine-treated Kaposi's sarcoma cells PubMed
    tat Insulin-like growth factor 1 (IGF-1) inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin-like growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin-like growth factor receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    insulin-like growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Ras protein signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of MAPK activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of protein kinase B activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone mineralization involved in bone maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    glycolate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    insulin-like growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myoblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myotube cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of amyloid-beta formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-1 beta production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of neuroinflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of oocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of release of cytochrome c from mitochondria ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of smooth muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of vascular associated smooth muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cardiac muscle hypertrophy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell growth involved in cardiac muscle cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell growth involved in cardiac muscle cell development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glycolytic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glycoprotein biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of trophectodermal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vascular smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of multicellular organism growth IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to heat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    alphav-beta3 integrin-IGF-1-IGF1R complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    exocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin-like growth factor binding protein complex IC
    Inferred by Curator
    more info
    PubMed 
    insulin-like growth factor ternary complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    insulin-like growth factor I
    Names
    insulin-like growth factor 1 (somatomedin C)
    insulin-like growth factor IB
    mechano growth factor
    somatomedin-C

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011713.1 RefSeqGene

      Range
      5038..89727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000618.5NP_000609.1  insulin-like growth factor I isoform 4 preproprotein

      See identical proteins and their annotated locations for NP_000609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate frame-shifting exon in the 3' coding region, compared to variant 1, resulting in a protein (isoform 4) with a novel C-terminus, compared to isoform 1. This isoform is also known as IA.
      Source sequence(s)
      AB209184, AC010202
      Consensus CDS
      CCDS9091.1
      UniProtKB/Swiss-Prot
      P05019
      UniProtKB/TrEMBL
      Q59GC5, Q5U743
      Related
      ENSP00000337612.6, ENST00000337514.10
      Conserved Domains (1) summary
      cd04368
      Location:49116
      IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    2. NM_001111283.3NP_001104753.1  insulin-like growth factor I isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001104753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This isoform is also known as IC.
      Source sequence(s)
      AC010202, AL603526, U40870
      Consensus CDS
      CCDS44961.1
      UniProtKB/TrEMBL
      Q13429
      Related
      ENSP00000376638.3, ENST00000392905.7
      Conserved Domains (1) summary
      cd04368
      Location:49116
      IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    3. NM_001111284.2NP_001104754.1  insulin-like growth factor I isoform 2 precursor

      See identical proteins and their annotated locations for NP_001104754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation from a distinct start codon and result in an isoform (2) with novel N- and C-termini, compared to isoform 1. This isoform is also known as IIA. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC010202, M37484
      Consensus CDS
      CCDS44960.1
      UniProtKB/Swiss-Prot
      P05019
      Related
      ENSP00000416811.2, ENST00000424202.6
      Conserved Domains (1) summary
      cd04368
      Location:33100
      IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    4. NM_001111285.3NP_001104755.1  insulin-like growth factor I isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001104755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1, resulting in a protein (isoform 3) with a novel C-terminus, compared to isoform 1. This isoform is also known as IB.
      Source sequence(s)
      AC010202, CA445905, X56774
      UniProtKB/Swiss-Prot
      P05019
      Related
      ENSP00000302665.8, ENST00000307046.8
      Conserved Domains (1) summary
      cd04368
      Location:49116
      IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      102395860..102481839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019262.2XP_016874751.1  insulin-like growth factor I isoform X3

    2. XM_017019263.2XP_016874752.1  insulin-like growth factor I isoform X4

      Conserved Domains (1) summary
      cd04368
      Location:66133
      IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    3. XM_017019259.1XP_016874748.1  insulin-like growth factor I isoform X1

    4. XM_017019261.1XP_016874750.1  insulin-like growth factor I isoform X2

    Support Center