IAPP islet amyloid polypeptide [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Understanding the structural dynamics of human islet amyloid polypeptide: Advancements in and applications of ion-mobility mass spectrometry.
Title: Understanding the structural dynamics of human islet amyloid polypeptide: Advancements in and applications of ion-mobility mass spectrometry.
The Co-oligomers of Abeta42 and Human Islet Amyloid Polypeptide Exacerbate Neurotoxicity and Alzheimer-like Pathology at Cellular Level.
Title: The Co-oligomers of Aβ42 and Human Islet Amyloid Polypeptide Exacerbate Neurotoxicity and Alzheimer-like Pathology at Cellular Level.
Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
Title: Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
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.
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.
Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
Title: Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (304)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35306 (e-PCR)
- UniSTS:60443

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

GDB:384719 (e-PCR)
- UniSTS:157086

IAPP_3999 (e-PCR)
- UniSTS:462261

NoName (e-PCR)
- UniSTS:480711

NoName (e-PCR)
- UniSTS:485595

SHGC-57392 (e-PCR)
- UniSTS:76018

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	TAS Traceable Author Statement more info	PubMed
enables hormone activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
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 receptor ligand activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amylin receptor 1 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in amylin receptor 2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in amylin receptor 3 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in amylin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in amylin receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amylin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
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 cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
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 ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
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 cAMP/PKA signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of calcium-mediated signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay 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
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation 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)

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
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