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FLASH GENE
Symbol INSR contributors: mct - updated : 22-01-2018
HGNC name insulin receptor
HGNC id 6091
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • precursor of two subunits alpha (ligand binding) and beta including the tyrosine kinase domain
  • 19 predicted N-linked glycosylation sites in each monomer
  • furin-like repeats
  • fibronectin type 3 domain
  • tyrosine kinase catalytic domain
  • secondary structure two alpha and two beta chains linked by disulfide bonds
    isoforms Precursor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked
    HOMOLOGY
    interspecies homolog to murine Insr
    intraspecies homolog to IG1R
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • insulin receptor subfamily
  • CATEGORY signaling hormone , receptor membrane tyrosine kinase
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • binding insulin and having a tyrosine-protein kinase activity
  • potentially having a neuroprotective role in rod photoreceptor cell function
  • INSR signaling in osteoblasts controls osteoblast development and osteocalcin expression by suppressing the RUNX2 inhibitor TWIST2
  • plays a key role in both metabolic and growth signaling pathways
  • dysregulation of its alternative splicing may have important consequences for insulin and insulin-like growth factor-II sensitivity and responsiveness
  • GLS, NCALD and INSR are involved in nutrient signaling pathways and energy homeostasis suggesting a role in celiac disease pathogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    INSR signaling pathways can regulate actin and tubulin cytoskeletal organization in photoreceptors
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binds specifically to MBNL1 (strong MBNL1 binding to a GGCUUU motif in INSR gene)
  • LMBRD1 plays an imperative role in mediating and regulating the endocytosis of the INSR
  • a putative defect in POU2F1 and/or POU2F2, by affecting HMGA1 expression, may cause INSR dysfunction, leading to defects of the INSR signaling pathway
  • GRB14 interacts with insulin receptor (INSR) through the between PH and SH2 (BPS) domain
  • APPL1 is a critical molecule that promotes IRS1/2-INSR interaction
  • IRS1 is recruited to interact with the INSRR-catalyzed phospho-tyrosine CAV2, which facilitates IRS1 association with and activation by INSR to initiate IRS1-mediated downstream signaling
  • ATIC, which is a rate-limiting enzyme in the de novo purine biosynthesis pathway, and PTPLAD1 are associated with insulin receptor (INSR) internalization
  • SORL1 acts as a sorting factor for the insulin receptor (IR) that redirects internalized receptor molecules from endosomes to the plasma membrane, thereby enhancing IR surface expression
  • MAD2L1BP blocks the MAD2L1-BUB1B interaction and prevents spontaneous clathrin-mediated INSR endocytosis
  • MARCHF1 is a negative regulator of INSR
  • interaction between BRD7 and INSR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) INSRDA , LPCN , HHF5 , RMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    splicing abnormalities in muscle of myotonic dystrophy 1 and 2 (DM1, DM2)
    constitutional     --other  
    haploinsufficiency for INSR and CHN2 associated with severe insulin resistance and intrauterine growth deficiency
    Susceptibility
  • to typical migraine (MAWMA)
  • to colorectal cancer (CRC)
  • to type 2 diabetes (T2DM)
  • Variant & Polymorphism SNP
  • INSR A-603G promoter SNP, which is located within a known Sp1-binding site, was associated with the risk of CRC, with carriers of the G allele having a decreased risk
  • variant genotypes rs1366600CC and TC/CC in the insulin receptor (INSR) gene were associated with T2DM
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS