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

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: mouse all

Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of IGF-IEc Isoform in Renal Cell Carcinoma Tissues.
Title: Expression of IGF-IEc Isoform in Renal Cell Carcinoma Tissues.
Identifying of miR-98-5p/IGF1 axis contributes breast cancer progression using comprehensive bioinformatic analyses methods and experiments validation.
Title: Identifying of miR-98-5p/IGF1 axis contributes breast cancer progression using comprehensive bioinformatic analyses methods and experiments validation.
Assessment of IGF-1 expression in the peripheral blood of women with recurrent breast cancer.
Title: Assessment of IGF-1 expression in the peripheral blood of women with recurrent breast cancer.
Interactions among IGF-1, AKT2, FOXO1, and FOXO3 variations and between genes and physical activities on physical performance in community-dwelling elders.
Title: Interactions among IGF-1, AKT2, FOXO1, and FOXO3 variations and between genes and physical activities on physical performance in community-dwelling elders.
Serum insulin-like growth factor-1 as a potential marker for MDD diagnosis, its clinical characteristics, and treatment efficacy validation: data from an open-label vortioxetine study.
Title: Serum insulin-like growth factor-1 as a potential marker for MDD diagnosis, its clinical characteristics, and treatment efficacy validation: data from an open-label vortioxetine study.
RELATIONSHIP BETWEEN INSULIN-LIKE GROWTH FACTOR TYPE 1 AND INTRAUTERINE GROWTH.
Title: RELATIONSHIP BETWEEN INSULIN-LIKE GROWTH FACTOR TYPE 1 AND INTRAUTERINE GROWTH.
Longitudinal evaluation of the association between Insulin-like growth factor-1, Bone specific alkaline phosphatase and changes in mandibular length.
Title: Longitudinal evaluation of the association between Insulin-like growth factor-1, Bone specific alkaline phosphatase and changes in mandibular length.
Wounding with a microneedling device corrects the inappropriate ultraviolet B radiation response in geriatric skin.
Title: Wounding with a microneedling device corrects the inappropriate ultraviolet B radiation response in geriatric skin.
Increased expression of IGF-1Ec with increasing colonic polyp dysplasia and colorectal cancer.
Title: Increased expression of IGF-1Ec with increasing colonic polyp dysplasia and colorectal cancer.
Elevated serum insulin-like growth factor 1 in recurrent aphthous stomatitis.
Title: Elevated serum insulin-like growth factor 1 in recurrent aphthous stomatitis.

Submit: New GeneRIF Correction See all GeneRIFs (1613)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH77802 (e-PCR)
- UniSTS:17665

D12S1962 (e-PCR)
- UniSTS:18699

IGF1 (e-PCR), detects polymorphism
- UniSTS:49688

D12S2023 (e-PCR)
- UniSTS:7967

G10727 (e-PCR)
- UniSTS:31781

D12S1103 (e-PCR)
- UniSTS:52274

WI-21639 (e-PCR)
- UniSTS:7237

D12S1074 (e-PCR)
- UniSTS:42570

NoName (e-PCR)
- UniSTS:482382

A009K41 (e-PCR)
- UniSTS:40791

WI-18971 (e-PCR)
- UniSTS:71779

Igf1 (e-PCR), detects polymorphism
- UniSTS:143467

IGF1_1346 (e-PCR)
- UniSTS:277356

GDB:181478 (e-PCR)
- UniSTS:155246

RH18058 (e-PCR)
- UniSTS:3990

GDB:384821 (e-PCR)
- UniSTS:157100

Igf1 (e-PCR), detects polymorphism
- UniSTS:516546

G32627 (e-PCR)
- UniSTS:117210

Homology

Homologs of the IGF1 gene: The IGF1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 334 organisms have orthologs with human gene IGF1
Orthologs

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

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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)

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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

NG_011713.1 RefSeqGene

Range

5038..89727

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000618.5 → NP_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:49 → 116

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 ...
NM_001111283.3 → NP_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:49 → 116

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 ...
NM_001111284.2 → NP_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:33 → 100

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 ...
NM_001111285.3 → NP_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:49 → 116

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

NC_000012.12 Reference GRCh38.p13 Primary Assembly

Range

102395860..102481839 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017019262.2 → XP_016874751.1 insulin-like growth factor I isoform X3
XM_017019263.2 → XP_016874752.1 insulin-like growth factor I isoform X4

Conserved Domains (1) summary

cd04368
Location:66 → 133

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 ...
XM_017019259.1 → XP_016874748.1 insulin-like growth factor I isoform X1
XM_017019261.1 → XP_016874750.1 insulin-like growth factor I isoform X2