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    IAPP islet amyloid polypeptide [ Homo sapiens ]

    Gene ID: 3375, updated on 13-May-2012

    Summary

    Official Symbol
    IAPPprovided by HGNC
    Official Full Name
    islet amyloid polypeptideprovided by HGNC
    Primary source
    HGNC:5329
    See related
    Ensembl:ENSG00000121351; HPRD:01005; MIM:147940; Vega:OTTHUMG00000169128
    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
    DAP; IAP
    Summary
    Islet, or insulinoma, amyloid polypeptide is commonly found in pancreatic islets of patients suffering diabetes mellitus type II, or harboring an insulinoma. While the association of amylin with the development of type II diabetes has been known for some time, a direct causative role for amylin has been harder to establish. Studies suggest that amylin, like the related beta-amyloid (Abeta) associated with Alzheimer's disease, can induce apoptotic cell-death in particular cultured cells, an effect that may be relevant to the development of type II diabetes. [provided by RefSeq, Apr 2011]

    Genomic context

    Location :
    12p12.1
    Sequence :
    Chromosome: 12; NC_000012.11 (21525802..21532914)
    See IAPP in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family, member 1B7 (non-functional) Neighboring gene solute carrier organic anion transporter family, member 1B1 Neighboring gene solute carrier organic anion transporter family, member 1A2 Neighboring gene transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) pseudogene Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene RecQ protein-like (DNA helicase Q1-like)

    Genomic regions, transcripts, and products

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P10997 Q9BXS0 COL25A1    HPRD  PubMed  
    P10997 P29120 PCSK1    HPRD  PubMed  
    P10997 P16519 PCSK2    HPRD  PubMed  
    P10997 P52945 PDX1    HPRD  PubMed  
    P10997 O60894 RAMP1    HPRD  PubMed  
    P10997 O60895 RAMP2    HPRD  PubMed  

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Amyloids, organism-specific biosystem (from REACTOME)
      Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
    • Calcitonin-like ligand receptors, organism-specific biosystem (from REACTOME)
      Calcitonin-like ligand receptors, organism-specific biosystemThe calcitonin peptide family comprises calcitonin, amylin, calcitonin gene-related peptide (CGRP), adrenomedullin (AM) and intermedin (AM2). Calcitonin is a 32 amino acid peptide, involved in bone h...
    • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
      Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    endocrine pancreas development TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    soluble fraction TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    islet amyloid polypeptide
    Names
    islet amyloid polypeptide
    amylin
    insulinoma amyloid peptide
    diabetes-associated peptide
    Islet amyloid polypeptide (diabetes-associated peptide; amylin)

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_000415.2NP_000406.1  islet amyloid polypeptide precursor

      Status: REVIEWED

      Source sequence(s)
      BQ548699, CK905016, J04422, X14905
      Consensus CDS
      CCDS8688.1
      UniProtKB/Swiss-Prot
      P10997
      Related
      ENSP00000240652, OTTHUMP00000240131, ENST00000240652, OTTHUMT00000402356
      Conserved Domains (2) summary
      smart00113
      Location:3273
      Blast Score: 117
      CALCITONIN; calcitonin
      pfam00214
      Location:173
      Blast Score: 189
      Calc_CGRP_IAPP; Calcitonin / CGRP / IAPP family

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      21525802..21532914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      21299907..21307017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006559.6 (4355..10953) None
    genomic CH471094.1 EAW96426.1
      EAW96427.1
    genomic M21785.1 AAA51728.1
    genomic M26650.1 AAA35983.1
    genomic M27503.1 AAA35524.1
    genomic X13859.1 CAB57803.1
    genomic X14902.1 CAA33031.1
    genomic X14903.1 CAB57804.1
    genomic X52818.1 CAA37002.1
    genomic X52819.1 None
    genomic X55634.1 None
    genomic X56030.1 CAA39504.1
    genomic X68830.1 CAA48724.1
    mRNA BQ548699.1 None
    mRNA CK905016.1 None
    mRNA DQ516082.1 ABG27010.1
    mRNA J04422.1 AAA52281.1
    mRNA X14904.1 CAA33032.1
    mRNA X14905.1 CAA33033.1
    other-genetic BC111849.2 AAI11850.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10997.1 GenPept UniProtKB/Swiss-Prot:P10997

      Supplemental Content

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