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

Gene ID: 3479, updated on 22-Nov-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
109.20200815 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
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
GeneReviews: Not available
Growth delay due to insulin-like growth factor type 1 deficiency
MedGen: C1837475 OMIM: 608747 GeneReviews: Not available
Compare labs
Identification of 15 loci influencing height in a Korean population.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
GeneReviews: Not available

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 population 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 population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population 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 associated 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 
wound healing IDA
Inferred from Direct Assay
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; 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 a ...
  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; 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 a ...
  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 109.20200815

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

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