AlphaFold predicted structure
PPP1CB · P62140
Mean pLDDT
91.6/ 100
Very high
327 residues
Confidence breakdown
- Very high(≥ 90)87%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PPP1CB
Chr 2p23.2protein phosphatase 1 catalytic subunit beta
- Aliases:
- PP1Cbeta, PPP1CD, PP1Cdelta, PP1B, PP-1B
- MANE:
- ENST00000395366.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRASopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Noonan syndrome-like disorder with loose anagen hair 2
0.74Noonan syndrome-like disorder with loose anagen hair
0.72Noonan syndrome
0.58neurodegenerative disease
0.56RASopathy
0.52Abnormality of the cardiovascular system
0.50autoimmune disorder of central nervous system
0.45Abnormality of the skeletal system
0.39hereditary disease
0.37carcinoma of esophagus
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Serine/threonine-protein phosphatase PP1-beta catalytic subunit
Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates the MAPK pathway activation (PubMed:35768504, PubMed:35831509, PubMed:36175670). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:35768504, PubMed:35831509, PubMed:36175670). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:36175670)
Diseases associated with PPP1CB
Curated MONDO disease pages that list PPP1CB among their top associated genes.