PPP1CA

Description

The PPP1CA (protein phosphatase 1 catalytic subunit alpha) is a protein-coding gene located on chromosome 11.

Serine/threonine-protein phosphatase PP1-alpha catalytic subunit is an enzyme that in humans is encoded by the PPP1CA gene.

== Function == The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene.

== Interactive pathway map == Click on genes, proteins and metabolites below to link to respective articles.

The PPP1CA gene encodes for a serine/threonine-protein phosphatase known as PP1-alpha, which plays a crucial role in regulating numerous cellular processes. PP1-alpha forms complexes with over 200 regulatory proteins, resulting in highly specific holoenzymes that dephosphorylate hundreds of biological targets. PP1-alpha is vital for cell division and participates in the regulation of glycogen metabolism, muscle contractility, and protein synthesis. Additionally, it is involved in regulating ionic conductances and long-term synaptic plasticity. It also plays a role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. PP1-alpha is a component of the PTW/PP1 phosphatase complex, which regulates chromatin structure and cell cycle progression during the transition from mitosis into interphase. This gene regulates the function of NEK2 in terms of kinase activity and centrosome number and splitting, both in the presence and absence of radiation-induced DNA damage. It also regulates neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. PP1-alpha, in balance with CSNK1D and CSNK1E, determines the circadian period length by regulating the speed and rhythmicity of PER1 and PER2 phosphorylation. It may also dephosphorylate CSNK1D and CSNK1E. PP1-alpha dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, leading to FOXP3 inactivation and functionally defective Treg cells (PubMed:23396208). It dephosphorylates CENPA (PubMed:25556658). PP1-alpha dephosphorylates the 'Ser-139' residue of ATG16L1, causing dissociation of the ATG12-ATG5-ATG16L1 complex, which inhibits autophagy (PubMed:26083323).

PPP1CA is also known as PP-1A, PP1A, PP1alpha, PPP1A.

Associated Diseases

WES Whole Exome Sequencing