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    INSR insulin receptor [ Homo sapiens (human) ]

    Gene ID: 3643, updated on 8-Jul-2021

    Summary

    Official Symbol
    INSRprovided by HGNC
    Official Full Name
    insulin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6091
    See related
    Ensembl:ENSG00000171105 MIM:147670
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 16.5), spleen (RPKM 15.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INSR in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7112257..7294414, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7112276..7294425, 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 Rho/Rac guanine nucleotide exchange factor 18 Neighboring gene uncharacterized LOC107985284 Neighboring gene peroxisomal biogenesis factor 11 gamma

    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
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    GeneReviews: Not available
    Genome-wide meta-analysis for severe diabetic retinopathy.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Hyperinsulinemic hypoglycemia familial 5
    MedGen: C1864952 OMIM: 609968 GeneReviews: Familial Hyperinsulinism
    Compare labs
    Insulin-resistant diabetes mellitus AND acanthosis nigricans
    MedGen: C0342278 OMIM: 610549 GeneReviews: Not available
    Compare labs
    Leprechaunism syndrome Compare labs
    Novel associations for hypothyroidism include known autoimmune risk loci.
    GeneReviews: Not available
    Pineal hyperplasia AND diabetes mellitus syndrome Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables PTB domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables amyloid-beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cargo receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables insulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables insulin binding IPI
    Inferred from Physical Interaction
    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-activated receptor activity 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 II binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin-like growth factor receptor binding 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 domain specific binding IPI
    Inferred from Physical Interaction
    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-containing complex binding IPI
    Inferred from Physical Interaction
    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 G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of protein kinase B activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    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 glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in insulin receptor signaling pathway 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 learning TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in memory TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuron projection maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    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 MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    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 IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glucose import NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    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 mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    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 kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    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 receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transformation of host cell by virus 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 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    part_of insulin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of insulin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of insulin receptor complex IMP
    Inferred from Mutant Phenotype
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nuclear lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    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 receptor
    Names
    IR
    NP_000199.2
    NP_001073285.1
    XP_011526290.2
    XP_011526291.2

    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_008852.2 RefSeqGene

      Range
      4587..186736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000208.4NP_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
      ENSP00000303830.4, ENST00000302850.10
      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_001079817.3NP_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
      ENSP00000342838.4, ENST00000341500.9
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      7112257..7294414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527989.3XP_011526291.2  insulin receptor isoform X2

    2. XM_011527988.2XP_011526290.2  insulin receptor isoform X1

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