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

Gene ID: 3479, updated on 16-Jan-2017
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; Vega:OTTHUMG00000149910
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
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]
Orthologs
Location:
12q23.2
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (102395867..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 uncharacterized LOC105369942 Neighboring gene uncharacterized LOC105369944 Neighboring gene long intergenic non-protein coding RNA 485

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Insulin-like growth factor I 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

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

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  • AMPK signaling pathway, conserved biosystem (from KEGG)
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  • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
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    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
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  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
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  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
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  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
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  • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
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  • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
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  • Long-term depression, organism-specific biosystem (from KEGG)
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  • Long-term depression, conserved biosystem (from KEGG)
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  • Longevity regulating pathway, organism-specific biosystem (from KEGG)
    Longevity regulating pathway, organism-specific biosystemRegulation of longevity depends on genetic and environmental factors. Caloric restriction (CR), that is limiting food intake, is recognized in mammals as the best characterized and most reproducible ...
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  • Lung fibrosis, organism-specific biosystem (from WikiPathways)
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  • Melanoma, organism-specific biosystem (from KEGG)
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  • Melanoma, conserved biosystem (from KEGG)
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  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
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  • Oocyte meiosis, organism-specific biosystem (from KEGG)
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  • Oocyte meiosis, conserved biosystem (from KEGG)
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    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
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  • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
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  • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
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  • Prostate cancer, organism-specific biosystem (from KEGG)
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  • Proteoglycans in cancer, conserved biosystem (from KEGG)
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  • Rap1 signaling pathway, conserved biosystem (from KEGG)
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  • Ras signaling pathway, organism-specific biosystem (from KEGG)
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  • SHC-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
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  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
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  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
  • mTOR signaling pathway, organism-specific biosystem (from KEGG)
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  • mTOR signaling pathway, conserved biosystem (from KEGG)
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  • p53 signaling pathway, organism-specific biosystem (from KEGG)
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  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
Products Interactant Other Gene Complex Source Pubs Description

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
DNA replication TAS
Traceable Author Statement
more info
PubMed 
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
 
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 
movement of cell or subcellular component TAS
Traceable Author Statement
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 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 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 
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 DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA replication ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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 import into nucleus, translocation 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 from RNA polymerase II promoter 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 Stat5 protein IDA
Inferred from Direct Assay
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 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
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

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
    4956..89734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000618.4NP_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, AL710591
    Consensus CDS
    CCDS9091.1
    UniProtKB/Swiss-Prot
    P05019
    UniProtKB/TrEMBL
    Q59GC5, Q5U743
    Related
    ENSP00000337612, OTTHUMP00000195080, ENST00000337514, OTTHUMT00000313854
    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_001111283.2NP_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, AL710591, U40870
    Consensus CDS
    CCDS44961.1
    UniProtKB/TrEMBL
    Q13429
    Related
    ENSP00000394999, ENST00000456098
    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_001111284.1NP_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, OTTHUMP00000195083, ENST00000424202, OTTHUMT00000313857
    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_001111285.2NP_001104755.1  insulin-like growth factor I isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_001104755.1

    Status: VALIDATED

    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
    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 Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    102395867..102481839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019262.1XP_016874751.1  

  2. XM_017019263.1XP_016874752.1  

  3. XM_017019259.1XP_016874748.1  

  4. XM_017019260.1XP_016874749.1  

    Related
    ENSP00000302665, OTTHUMP00000195081, ENST00000307046, OTTHUMT00000313855
    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 ...
  5. XM_017019261.1XP_016874750.1  

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    102756305..102841149 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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