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FLASH GENE
Symbol INS contributors: mct/npt/shn - updated : 16-10-2010
HGNC name insulin
HGNC id 6081
Corresponding disease
MODY10 maturity onset diabetes of the young, type 10
PNDM4 permanent neonatal diabetes mellitus 4
Location 11p15.5      Physical location : 2.181.008 - 2.182.439
Synonym name proinsulin
Synonym symbol(s) ILPR, IRDN, IDDM2, MODY10
DNA
TYPE functioning gene
STRUCTURE 1.43 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site   HRE
text structure
  • four regulatory elements within the insulin promoter, the cyclic AMP responsive element (CRE) binding by far the most diverse array of transcription factors (Hay 2007)
  • CRE2 binding ATF2 (Hay 2007)
  • KLF11overexpression-mediated inhibition of proinsulin gene expression and characterise a prominent role for the CACCC box in maintaining basal proinsulin promoter activity (Niu 2007)
    • ; promoter CpG demethylation may play a crucial role in beta cell maturation and tissue-specific insulin gene expression (Kuroda 2009)
    MAPPING cloned Y linked Y status confirmed
    Map pter - D11S4177 - D11S922 - INS - DD11S4088 - D11S4146 - cen
    Authors Glaser (89), Puech (92), Higgins (94), Whitmore (00)
    Physical map
    TOLLIP 11p15.5 toll interacting protein STK29 11p15.5 serine/threonine kinase 29 HCCA2 11p15.5 HCCA2 protein DUSP8 11p15.5 dual specificity phosphatase 8 LOC387741 11 hypothetical gene supported by AK124823 LOC387742 11 hypothetical gene supported by AK124823 CTSD 11p15.5 cathepsin D (lysosomal aspartyl protease) LOC255701 11p15.5 similar to large subunit ribosomal protein L36a LOC390029 11 similar to A-X actin SYT8 11p15.5 synaptotagmin VIII TNNI2 11p15.5 troponin I, skeletal, fast LSP1 11p15.5 lymphocyte-specific protein 1 TNNT3 11p15.5 troponin T3, skeletal, fast MRPL23 11p15.5 mitochondrial ribosomal protein L23 LOC387743 11 LOC387743 H19 11p15.5 H19, imprinted maternally expressed untranslated mRNA IGF2 11p15.5 insulin-like growth factor 2 (somatomedin A) IGF2AS 11p15.5 insulin-like growth factor 2, antisense INS 11p15.5 insulin TH 11p15.5 tyrosine hydroxylase ASCL2 11p15.5 achaete-scute complex-like 2 (Drosophila) C11orf21 11p15.5 chromosome 11 open reading frame 21 PHEMX 11p15.5 pan-hematopoietic expression CD81 11p15.5 CD81 antigen (target of antiproliferative antibody 1) TSSC4 11p15.5 tumor suppressing subtransferable candidate 4 TRPM5 11p15.5 transient receptor potential cation channel, subfamily M, member 5 KCNQ1 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1 CDKN1C 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2) HSA404617 11p15.5 BWRT protein SLC22A1LS 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like antisense SLC22A1L 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like PHLDA2 11p15.5 pleckstrin homology-like domain, family A, member 2 NAP1L4 11p15.5 nucleosome assembly protein 1-like 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 469 - 110 - Arcaro (2007)
    3 splicing 648 - 110 - -
    3 splicing 495 - 110 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING maternally
    text paternally expressed
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a B-chain
  • a connecting C-peptide
  • an A-chain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Ins2
    ortholog to ins, Danio rerio
    ortholog to INS, Pan troglodytes
    Homologene
    FAMILY
  • insulin family
    • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • key protein hormone that regulates blood glucose levels and, thus, has widespread impact on lipid and protein metabolism (Jirácek 2010)
  • increasing cell permeability to monosaccharides, amino-acids, fatty acids
  • regulating the activity of ERK5
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
  • two peptides A and B covalently linked via two disulfide bounds
    • INTERACTION
    DNA
  • SYT8 gene (
    • RNA
    small molecule
    protein
  • granuphilin (
  • leptin (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MODY10 , PNDM4
    Susceptibility to childhood obesity
    Variant & Polymorphism repeat VNTR increasing the risk of childhood obesity
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS