PPP1CC Gene: Function, Mutations, and Associated Diseases

PPP1CC encodes the gamma catalytic subunit of protein phosphatase 1 (PP1), a ubiquitous serine/threonine phosphatase that regulates diverse cellular processes including cell cycle progression, glycogen metabolism, muscle contraction, and neuronal signaling. PP1 holoenzymes consist of a catalytic subunit (PPP1CA, PPP1CB, or PPP1CC) and one or more regulatory subunits that determine substrate specificity and subcellular localization. PPP1CC is expressed in multiple tissues and is essential for mitotic exit and cytokinesis.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Glycogen metabolism (Reactome: R-HSA-71387)

• Cell cycle

• mitotic (Reactome: R-HSA-69278)

• Signaling by GPCR (Reactome: R-HSA-372790)

• PP1 regulatory network (KEGG: hsa04150)

PPP1CC encodes the 323-amino-acid gamma catalytic subunit of protein phosphatase 1 (PP1). The protein contains a conserved PP1 catalytic domain and a C-terminal region that mediates interaction with regulatory subunits. It is ubiquitously expressed with highest levels in testis and brain. PPP1CC dephosphorylates serine/threonine residues on target proteins, counteracting kinase activities. It plays critical roles in mitotic exit, cytokinesis, glycogen metabolism, and neuronal plasticity. Dysregulation of PPP1CC is implicated in cancer and neurodevelopmental disorders.