Gene: PIN1

Alternate names for this Gene: DOD|UBL5

Gene Summary: Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: peptidylprolyl cis/trans isomerase, NIMA-interacting 1

Type of Gene: protein-coding

rs2287838 in PIN1 gene and Duration of sleep PMID 25469926 2015 Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.

rs8104651 in PIN1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.