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IAPP islet amyloid polypeptide [ Homo sapiens (human) ]

Gene ID: 3375, updated on 21-Jul-2014
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]
See IAPP in Epigenomics, MapViewer
Location:
12p12.1
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (21372868..21379980)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21525802..21532914)

Chromosome 12 - NC_000012.12Genomic 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 pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene transcription elongation factor B (SIII), polypeptide 1 pseudogene 31 Neighboring gene RecQ helicase-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
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 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
negative regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
islet amyloid polypeptide
Names
islet amyloid polypeptide
amylin
insulinoma amyloid peptide
diabetes-associated peptide
Islet amyloid polypeptide (diabetes-associated peptide; amylin)

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

    See proteins identical to NP_000406.1

    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: 126
    CALCITONIN; calcitonin
    pfam00214
    Location:173
    Blast Score: 197
    Calc_CGRP_IAPP; Calcitonin / CGRP / IAPP family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    21372868..21379980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    21491270..21498381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)