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

    Gene ID: 3480, updated on 7-Feb-2023

    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; AllianceGenome:HGNC:5465
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IGF1R in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (98648539..98964530)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96412912..96728919)
    105.20220307 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 uncharacterized LOC124903560 Neighboring gene uncharacterized LOC124903561 Neighboring gene microRNA 4714 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
    Growth delay due to insulin-like growth factor I resistance
    MedGen: C1849157 OMIM: 270450 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-11-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-11-08)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    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 G-protein alpha-subunit 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 activity IBA
    Inferred from Biological aspect of Ancestor
    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-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 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 protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amyloid-beta clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac atrium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to progesterone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to testosterone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to zinc ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic spine maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in estrous cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    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 MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cholangiocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of hepatocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    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 cytokinesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    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 positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of steroid hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transcytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    located_in caveola IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of insulin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    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 neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IC
    Inferred by Curator
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    insulin-like growth factor 1 receptor
    Names
    IGF-I receptor
    NP_000866.1
    NP_001278787.1
    XP_011519818.1
    XP_011519819.1
    XP_016877626.1
    XP_047288398.1
    XP_047288399.1
    XP_047288400.1
    XP_047288401.1

    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, Q9UCC0
      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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047432443.1XP_047288399.1  insulin-like growth factor 1 receptor isoform X3

      UniProtKB/Swiss-Prot
      Q9UCC0
    2. XM_047432444.1XP_047288400.1  insulin-like growth factor 1 receptor isoform X4

      UniProtKB/TrEMBL
      C9J5X1
    3. XM_047432445.1XP_047288401.1  insulin-like growth factor 1 receptor isoform X5

    4. XM_017022137.2XP_016877626.1  insulin-like growth factor 1 receptor isoform X1

    5. XM_047432442.1XP_047288398.1  insulin-like growth factor 1 receptor isoform X2

    6. XM_011521516.3XP_011519818.1  insulin-like growth factor 1 receptor isoform X6

      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_011521517.3XP_011519819.1  insulin-like growth factor 1 receptor isoform X7

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      96412912..96728919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.