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IGF1R insulin like growth factor 1 receptor [ Homo sapiens (human) ]

Gene ID: 3480, updated on 9-May-2021

Summary

Official Symbol
IGF1Rprovided by HGNC
Official Full Name
insulin like growth factor 1 receptorprovided by HGNC
Primary source
HGNC:HGNC:5465
See related
Ensembl:ENSG00000140443 MIM:147370
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
IGFR; CD221; IGFIR; JTK13
Summary
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Expression
Ubiquitous expression in kidney (RPKM 8.9), ovary (RPKM 8.7) and 24 other tissues See more
Orthologs
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Genomic context

See IGF1R in Genome Data Viewer
Location:
15q26.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (98648539..98964530)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99191768..99507759)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2351 Neighboring gene zinc finger CCHC-type containing 9 pseudogene Neighboring gene protein FAM169B Neighboring gene VISTA enhancer hs1932 Neighboring gene IGF1R antisense imprinted non-protein coding RNA Neighboring gene microRNA 4714 Neighboring gene uncharacterized LOC105371013 Neighboring gene pyroglutamyl-peptidase I like Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1

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
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
GeneReviews: Not available
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Growth delay due to insulin-like growth factor I resistance
MedGen: C1849157 OMIM: 270450 GeneReviews: Not available
Compare labs
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-08-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 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

Clone Names

  • MGC18216, MGC142170, MGC142172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables insulin receptor substrate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables insulin receptor substrate binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables insulin-like growth factor I binding IDA
Inferred from Direct Assay
more info
PubMed 
enables insulin-like growth factor I binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin-like growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables insulin-like growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol 3-kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in amyloid-beta clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cellular response to glucose stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inactivation of MAPKK activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in insulin-like growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in insulin-like growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within peptidyl-tyrosine autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphatidylinositol 3-kinase signaling IC
Inferred by Curator
more info
PubMed 
involved_in phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of protein-containing complex disassembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of JNK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in transcytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of alphav-beta3 integrin-IGF-1-IGF1R complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of insulin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of protein kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
insulin-like growth factor 1 receptor
Names
IGF-I receptor
soluble IGF1R variant 1
soluble IGF1R variant 2
NP_000866.1
NP_001278787.1
XP_011519818.1
XP_011519819.1
XP_016877625.1
XP_016877626.1
XP_016877627.1
XP_016877628.1
XP_024305681.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_009492.1 RefSeqGene

    Range
    4008..319999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1055

mRNA and Protein(s)

  1. NM_000875.5NP_000866.1  insulin-like growth factor 1 receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_000866.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB425196, AC069029, AC118658, BC088377, BC113610, X04434
    Consensus CDS
    CCDS10378.1
    UniProtKB/Swiss-Prot
    P08069
    Related
    ENSP00000497069.1, ENST00000650285.1
    Conserved Domains (4) summary
    cd05032
    Location:9921268
    PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
    cd00063
    Location:835924
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00757
    Location:175330
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:352466
    Recep_L_domain; Receptor L domain
  2. NM_001291858.2NP_001278787.1  insulin-like growth factor 1 receptor isoform 2 precursor

    See identical proteins and their annotated locations for NP_001278787.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (2) is one aa shorter and has a different internal aa, compared to isoform 1.
    Source sequence(s)
    AB425196, AC069029, AC118658, BC088377, X04434
    Consensus CDS
    CCDS73785.1
    UniProtKB/Swiss-Prot
    P08069
    UniProtKB/TrEMBL
    C9J5X1
    Related
    ENSP00000496919.1, ENST00000649865.1
    Conserved Domains (6) summary
    cd05032
    Location:9911267
    PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
    cd00063
    Location:835924
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:230277
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:175330
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:352466
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:9981265
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    98648539..98964530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022139.1XP_016877628.1  insulin-like growth factor 1 receptor isoform X3

  2. XM_017022136.1XP_016877625.1  insulin-like growth factor 1 receptor isoform X1

  3. XM_017022137.1XP_016877626.1  insulin-like growth factor 1 receptor isoform X1

  4. XM_017022138.1XP_016877627.1  insulin-like growth factor 1 receptor isoform X2

  5. XM_011521516.2XP_011519818.1  insulin-like growth factor 1 receptor isoform X4

    Conserved Domains (4) summary
    cd05032
    Location:689965
    PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
    cd00063
    Location:532621
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00757
    Location:127
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:49163
    Recep_L_domain; Receptor L domain
  6. XM_024449913.1XP_024305681.1  insulin-like growth factor 1 receptor isoform X4

    Conserved Domains (4) summary
    cd05032
    Location:689965
    PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
    cd00063
    Location:532621
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00757
    Location:127
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:49163
    Recep_L_domain; Receptor L domain
  7. XM_011521517.2XP_011519819.1  insulin-like growth factor 1 receptor isoform X5

    Conserved Domains (3) summary
    cd05032
    Location:547823
    PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
    cd00063
    Location:390479
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07714
    Location:554821
    Pkinase_Tyr; Protein tyrosine kinase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152452.1: Suppressed sequence

    Description
    NM_152452.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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