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    IAPP islet amyloid polypeptide [ Homo sapiens (human) ]

    Gene ID: 3375, updated on 18-Nov-2024

    Summary

    Official Symbol
    IAPPprovided by HGNC
    Official Full Name
    islet amyloid polypeptideprovided by HGNC
    Primary source
    HGNC:HGNC:5329
    See related
    Ensembl:ENSG00000121351 MIM:147940; AllianceGenome:HGNC:5329
    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
    This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]
    Expression
    Restricted expression toward pancreas (RPKM 16.6) See more
    Orthologs
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    Genomic context

    See IAPP in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21354959..21379980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21233632..21258654)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21507893..21532914)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1B1 Neighboring gene uncharacterized LOC124903123 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:21386467-21387666 Neighboring gene uncharacterized LOC124902895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21402494-21402994 Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21477387-21477904 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21491840-21492346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21546997-21547930 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21547931-21548862 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21569666-21570167 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21572391-21572952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6087 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21654373-21655080 Neighboring gene RecQ like helicase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding PubMed 
    enables hormone activity  
    enables identical protein binding PubMed 
    enables identical protein binding PubMed 
    enables lipid binding PubMed 
    enables protein binding PubMed 
    enables receptor ligand activity PubMed 
    enables receptor ligand activity  
    enables signaling receptor binding PubMed 
    Items 1 - 25 of 29
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway PubMed 
    involved_in amylin receptor 1 signaling pathway PubMed 
    involved_in amylin receptor 2 signaling pathway PubMed 
    involved_in amylin receptor 3 signaling pathway PubMed 
    involved_in amylin receptor signaling pathway PubMed 
    involved_in amylin receptor signaling pathway PubMed 
    involved_in amylin receptor signaling pathway  
    involved_in amyloid fibril formation PubMed 
    involved_in apoptotic process PubMed 
    involved_in bone resorption  
    involved_in cell-cell signaling PubMed 
    involved_in eating behavior  
    involved_in negative regulation of amyloid fibril formation PubMed 
    involved_in negative regulation of bone resorption  
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of osteoclast differentiation  
    involved_in negative regulation of protein-containing complex assembly PubMed 
    involved_in osteoclast differentiation  
    involved_in positive regulation of ERK1 and ERK2 cascade PubMed 
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of apoptotic process PubMed 
    involved_in positive regulation of cAMP/PKA signal transduction PubMed 
    involved_in positive regulation of calcium-mediated signaling PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in protein destabilization PubMed 
    involved_in protein homooligomerization PubMed 
    involved_in sensory perception of pain  
    involved_in signal transduction PubMed 
    Items 1 - 25 of 29
    Component Evidence Code Pubs
    located_in extracellular region  
    is_active_in extracellular space  
    is_active_in extracellular space PubMed 
    located_in inclusion body PubMed 
    located_in neuronal cell body  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000415.3NP_000406.1  islet amyloid polypeptide preproprotein

      See identical proteins and their annotated locations for NP_000406.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BQ548699, J04422, X14905
      Consensus CDS
      CCDS8688.1
      UniProtKB/Swiss-Prot
      P10997, Q0ZD87, Q14598
      UniProtKB/TrEMBL
      F5H0S1
      Related
      ENSP00000240652.3, ENST00000240652.8
      Conserved Domains (1) summary
      smart00113
      Location:3273
      CALCITONIN; calcitonin
    2. NM_001329201.2NP_001316130.1  islet amyloid polypeptide preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA429852, AA446156, AC022224, BQ548699, J04422, X14905
      Consensus CDS
      CCDS8688.1
      UniProtKB/Swiss-Prot
      P10997, Q0ZD87, Q14598
      UniProtKB/TrEMBL
      F5H0S1
      Related
      ENSP00000437357.1, ENST00000539393.5
      Conserved Domains (1) summary
      smart00113
      Location:3273
      CALCITONIN; calcitonin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      21354959..21379980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      21233632..21258654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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