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FLASH GENE
Symbol INSR contributors: mct - updated : 22-01-2015
HGNC name insulin receptor
HGNC id 6091
Corresponding disease
HHF5 hyperinsulinemic hypoglycemia, familial, 5
INSRDA insulin-resistant diabetes mellitus with acanthosis nigricans
LPCN leprechaunism
RMS Rabson-Mendenhall syndrome
Location 19p13.2      Physical location : 7.112.265 - 7.294.011
Synonym name CD220 antigen
Synonym symbol(s) CD220, HHF5, IR
EC.number 2.7.1.112, 2.7.10.1
DNA
TYPE functioning gene
STRUCTURE 181.75 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • intronic cis-element, which is located in the intron downstream of alternatively spliced exon 11 )
  • MAPPING cloned Y linked Y status confirmed
    Map pter - D19S814 - D19S247 ,D19S424 - D19S536 - D19S534 - D19S216 - INSR - D19S76 - D19S816 - D19S461 /D19S413 - cen
    Physical map
    CRB3 19p13.3 crumbs homolog 3 (Drosophila) FLJ22757 TUBB5 19p13.3 tubulin, beta, 5 TNFSF9 19p13.3 tumor necrosis factor (ligand) superfamily, member 9 TNFSF7 19p13 tumor necrosis factor (ligand) superfamily, member 7 LOC390878 19 similar to 60S ribosomal protein L7 TNFSF14 19p13.3 tumor necrosis factor (ligand) superfamily, member 14 C3 19p13.3 complement component 3 GPR108 19p13.3 G protein-coupled receptor 108 TRIP10 19p13.3 thyroid hormone receptor interactor 10 SH2D3A 19p13.3 SH2 domain containing 3A VAV1 19p13.3 vav 1 oncogene EMR1 19p13.3 egf-like module containing, mucin-like, hormone receptor-like sequence 1 EMR4 19p13.3 egf-like module containing, mucin-like, hormone receptor-like 4 LOC284428 19p13.3 similar to methyl-CpG binding domain protein 3-like 2 MBD3L2 19p13.3 methyl-CpG binding domain protein 3-like 2 LOC388498 19 similar to methyl-CpG binding domain protein 3-like 2 MGC4054 19p13.3 hypothetical protein MGC4054 INSR 19p13.3-p13.2 insulin receptor P114-RHO-GEF 19p13.3 insulin receptor PEX11G 19p13.2 peroxisomal biogenesis factor 11 gamma FLJ35784 19p13.3 FLJ35784 protein ZNF358 19p13.3 zinc finger protein 358 MCOLN1 19p13.3-13.2 mucolipin 1 NTE 19p13.3-p13.2 mucolipin 1 KIAA1543 19p13.3-p13.2 mucolipin 1 XAB2 19p13.3 XPA binding protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 9059 154 1382 expressed predominantly in fetal cells and the early embryo, including the trophoblast and inner cell mass of the blastocyst 2010 20519504
  • differ by a 12-AA insertion in the hormone-binding domain of the receptor due to alternative splicing of exon 11
  • IR-A
  • IR isoform lacking exon 11 (IR-A) binds both insulin and insulin-like growth factor-II
  • 21 - 9023 153 1370 predominantly in the insulin-sensitive tissues liver, muscle, adipocytes, and kidney 2010 20519504
  • IR-B
  • IR isoform lacking exon 11 (IR-A) binds both insulin and insulin-like growth factor-II, whereas the exon 11+ isoform (IR-B) only binds insulin
  • EXPRESSION
    Rna function insulin receptor mRNA contains a functional internal ribosome entry segment
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary  highly
    Respiratorylung   highly
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • MAD2L1BP blocks the MAD2L1-BUB1B interaction and prevents spontaneous clathrin-mediated INSR endocytosis
  • 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