IAPP (islet amyloid polypeptide)

2007-02-01  

Identity

HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
DAP,IAP
FUSION GENES

Other Information

Locus ID:

NCBI: 3375
MIM: 147940
HGNC: 5329
Ensembl: ENSG00000121351

Variants:

dbSNP: 3375
ClinVar: 3375
TCGA: ENSG00000121351
COSMIC: IAPP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121351ENST00000240652P10997
ENSG00000121351ENST00000240652A0A024RAU1
ENSG00000121351ENST00000535428H0YF85
ENSG00000121351ENST00000537593F5H0S1
ENSG00000121351ENST00000539393P10997
ENSG00000121351ENST00000539393A0A024RAU1
ENSG00000121351ENST00000542023F5H1F0

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
Calcitonin-like ligand receptorsREACTOMER-HSA-419812
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217427882011Islet amyloid polypeptide, islet amyloid, and diabetes mellitus.250
174759332007High expression rates of human islet amyloid polypeptide induce endoplasmic reticulum stress mediated beta-cell apoptosis, a characteristic of humans with type 2 but not type 1 diabetes.154
184081642008Membrane damage by human islet amyloid polypeptide through fibril growth at the membrane.132
153217142004Phospholipid catalysis of diabetic amyloid assembly.119
193464792009Two-dimensional IR spectroscopy and isotope labeling defines the pathway of amyloid formation with residue-specific resolution.107
185564732008Atomic structure of the cross-beta spine of islet amyloid polypeptide (amylin).105
161429092005Lipid membranes modulate the structure of islet amyloid polypeptide.103
171239622007Direct detection of transient alpha-helical states in islet amyloid polypeptide.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
155277712004Islet amyloid polypeptide-induced membrane leakage involves uptake of lipids by forming amyloid fibers.79

Citation

Dessen P

IAPP (islet amyloid polypeptide)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46516/iapp