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IAPP islet amyloid polypeptide [ Homo sapiens (human) ]

Gene ID: 3375, updated on 11-Apr-2024

Summary

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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

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Location:
12p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21354959..21379980)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21233632..21258654)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

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Related articles in PubMed

  1. Impact of Ca(2+) on membrane catalyzed IAPP amyloid formation and IAPP induced vesicle leakage. Li MH, et al. Biochim Biophys Acta Biomembr, 2023 Aug. PMID 37121365,
  2. Lipid domain boundary triggers membrane damage and protein folding of human islet amyloid polypeptide in the early pathogenesis of amyloid diseases. Lewis A, et al. Biophys Chem, 2023 May. PMID 36898349
  3. Novel Hominid-Specific IAPP Isoforms: Potential Biomarkers of Early Alzheimer's Disease and Inhibitors of Amyloid Formation. Liu QR, et al. Biomolecules, 2023 Jan 13. PMID 36671553, Free PMC Article
  4. Molecular Mechanisms of Amylin Turnover, Misfolding and Toxicity in the Pancreas. Bhowmick DC, et al. Molecules, 2022 Feb 2. PMID 35164285, Free PMC Article
  5. Amylin serum levels are upregulated in patients with systemic lupus erythematosus. Quevedo-Abeledo JC, et al. Clin Exp Rheumatol, 2022 Jul. PMID 34596033

See all (351) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
    Title: Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
  2. The Abeta42 Peptide and IAPP Physically Interact in a Yeast-Based Assay.
    Title: The Aβ42 Peptide and IAPP Physically Interact in a Yeast-Based Assay.
  3. Impact of Ca[2+] on membrane catalyzed IAPP amyloid formation and IAPP induced vesicle leakage.
    Title: Impact of Ca(2+) on membrane catalyzed IAPP amyloid formation and IAPP induced vesicle leakage.
  4. Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
    Title: Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
  5. Lipid domain boundary triggers membrane damage and protein folding of human islet amyloid polypeptide in the early pathogenesis of amyloid diseases.
    Title: Lipid domain boundary triggers membrane damage and protein folding of human islet amyloid polypeptide in the early pathogenesis of amyloid diseases.
  6. Plasma IAPP-Autoantibody Levels in Alzheimer's Disease Patients Are Affected by APOE4 Status.
    Title: Plasma IAPP-Autoantibody Levels in Alzheimer's Disease Patients Are Affected by APOE4 Status.
  7. Novel Hominid-Specific IAPP Isoforms: Potential Biomarkers of Early Alzheimer's Disease and Inhibitors of Amyloid Formation.
    Title: Novel Hominid-Specific IAPP Isoforms: Potential Biomarkers of Early Alzheimer's Disease and Inhibitors of Amyloid Formation.
  8. SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
    Title: SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
  9. Amylin serum levels are upregulated in patients with systemic lupus erythematosus.
    Title: Amylin serum levels are upregulated in patients with systemic lupus erythematosus.
  10. Molecular Mechanisms of Amylin Turnover, Misfolding and Toxicity in the Pancreas.
    Title: Molecular Mechanisms of Amylin Turnover, Misfolding and Toxicity in the Pancreas.
Submit: New GeneRIF Correction See all GeneRIFs (302)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding TAS
Traceable Author Statement
more info
 PubMed 
enables hormone activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lipid binding EXP
Inferred from Experiment
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in amylin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in bone resorption IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in eating behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of amyloid fibril formation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MAPK cascade NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of calcium-mediated signaling IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of protein kinase A signaling IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_000415.3 → NP_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:32 → 73
    CALCITONIN; calcitonin

  2. NM_001329201.2 → NP_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:32 → 73
    CALCITONIN; calcitonin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10997.1 GenPept UniProtKB/Swiss-Prot:P10997

Gene LinkOut

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