Version: 8.0.0
Date: Tue Jan 28 2025
IGF1R
Homo sapiensHGNC:5465
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

IGF1R

Species
Homo sapiens
Symbol
IGF1R
Name
insulin like growth factor 1 receptor
Synonyms
  • CD221
  • IGF-I receptor
Biotype
protein coding gene
Automated Description
Enables several functions, including insulin binding activity; insulin receptor binding activity; and insulin receptor substrate binding activity. Involved in several processes, including cellular response to amyloid-beta; insulin-like growth factor receptor signaling pathway; and regulation of intracellular signal transduction. Acts upstream of or within peptidyl-tyrosine autophosphorylation. Located in intracellular membrane-bounded organelle and membrane. Part of alphav-beta3 integrin-IGF-1-IGF1R complex; protein kinase complex; and receptor complex. Implicated in several diseases, including IgA glomerulonephritis; dementia (multiple); kidney cancer (multiple); liver disease (multiple); and toxic encephalopathy. Biomarker of several diseases, including Kuhnt-Junius degeneration; autoimmune disease (multiple); endocrine gland cancer (multiple); neurodegenerative disease (multiple); and prostate disease (multiple).
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24416
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          IGF1R molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            IGF1R role
            IGF1R genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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