PPP1R1C
protein-codingprotein phosphatase 1 regulatory inhibitor subunit 1C, the group of Protein phosphatase 1 regulatory subunits
Gene summary
Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~177.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PPP1R1C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001080545.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 12 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 15 | 0 | 0 | 15 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001074014.1 | 5 | MANE Select | |
| Ensembl | ENSP00000507052.1 | 5 | MANE Select | |
| RefSeq | NP_001248353.1 | 5 | Standard | |
| RefSeq | NP_001248354.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell cycle
- negative regulation of phosphoprotein phosphatase activity
- intracellular signal transduction
- cell division
Molecular Function
- protein phosphatase inhibitor activity
Cellular Component
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000280295
- Coding exons
- 5
- Length
- 177158
- Individuals with no LoFs
- 124575
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 74
- Defined
- 124649
- p
- 0.000297
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.308 | 49 | 55.5 | 0.884 | 0.00000268 | 746 |
| Missense (PolyPhen) | 20 | 28.411 | 0.70395 | 396 | ||
| Synonymous | 1.33 | 11 | 18.2 | 0.605 | 8.67e-7 | 197 |
| Loss of Function | 0.0108 | 7 | 7.03 | 0.996 | 2.98e-7 | 93 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.0028 | 0.0028 | notable |
| European (Non-Finnish) | 0.000062 | 0.000062 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inhibitor of protein-phosphatase 1. Promotes cell growth and cell cycle progress at the G1/S transition. May increase cell susceptibility to TNF-induced apoptosis. {ECO:0000269|PubMed:18310074, ECO:0000269|PubMed:19874272}.;
Recessive Scores
- pRec
- 0.0659
Intolerance Scores
- LoFtool
- 0.739
- RVIS EVS
- 0.04
- RVIS percentile EVS
- 56.25
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.218
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |