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    INSR insulin receptor [ Homo sapiens (human) ]

    Gene ID: 3643, updated on 22-Sep-2016
    Official Symbol
    INSRprovided by HGNC
    Official Full Name
    insulin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6091
    See related
    Ensembl:ENSG00000171105 HPRD:00975; MIM:147670; Vega:OTTHUMG00000181992
    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
    HHF5; CD220
    Summary
    This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    19p13.3-p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (7112255..7294405, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7112266..7294011, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 3 like 3 Neighboring gene zinc finger protein 557 Neighboring gene uncharacterized LOC107985283 Neighboring gene Rho/Rac guanine nucleotide exchange factor 18 Neighboring gene uncharacterized LOC107985284 Neighboring gene uncharacterized LOC100128573

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyperinsulinemic hypoglycemia familial 5
    MedGen: C1864952 OMIM: 609968 GeneReviews: Not available
    Compare labs
    Insulin-resistant diabetes mellitus AND acanthosis nigricans
    MedGen: C0271690 OMIM: 610549 GeneReviews: Not available
    Compare labs
    Leprechaunism syndrome
    MedGen: C0265344 OMIM: 246200 GeneReviews: Not available
    Compare labs
    Pineal hyperplasia AND diabetes mellitus syndrome
    MedGen: C0271695 OMIM: 262190 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    NHGRI GWA Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    NHGRI GWA Catalog
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      Signaling events mediated by PTP1B
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      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    PTB domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin receptor substrate binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin-like growth factor I binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin-like growth factor II binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin-like growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol 3-kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor signaling protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of MAPK activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of protein kinase B activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    exocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    male sex determination IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glucose import NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein heterotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction by protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    transformation of host cell by virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin receptor complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    insulin receptor
    Names
    IR
    NP_000199.2
    NP_001073285.1

    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_008852.2 RefSeqGene

      Range
      4699..186746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000208.3NP_000199.2  insulin receptor isoform Long preproprotein

      See identical proteins and their annotated locations for NP_000199.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (Long).
      Source sequence(s)
      AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
      Consensus CDS
      CCDS12176.1
      UniProtKB/Swiss-Prot
      P06213
      Related
      ENSP00000303830, OTTHUMP00000268023, ENST00000302850, OTTHUMT00000458544
      Conserved Domains (6) summary
      cd05061
      Location:10161303
      PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
      cd00063
      Location:867944
      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:234281
      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:179337
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:359472
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:10231290
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001079817.2NP_001073285.1  insulin receptor isoform Short preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Short) has the same N- and C-termini but is shorter compared to isoform Long.
      Source sequence(s)
      AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
      Consensus CDS
      CCDS42487.1
      UniProtKB/Swiss-Prot
      P06213
      Related
      ENSP00000342838, OTTHUMP00000268022, ENST00000341500, OTTHUMT00000458543
      Conserved Domains (6) summary
      cd05061
      Location:10041291
      PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
      cd00063
      Location:855932
      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:234281
      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:179337
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:359472
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:10111278
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      7112255..7294405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527988.2XP_011526290.2  

    2. XM_011527989.2XP_011526291.2  

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      7111894..7294726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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