PPP1R14C Gene - Protein Phosphatase 1 Regulatory Inhibitor Subunit 14C
Comprehensive genomic and functional annotation of PPP1R14C, a regulator of protein phosphatase 1 activity.
Gene Information Card
| Symbol | PPP1R14C |
|---|---|
| Full Name | protein phosphatase 1 regulatory inhibitor subunit 14C |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 81706 ncbi.nlm.nih.gov/gene/81706 |
| Ensembl ID | ENSG00000111832 |
| UniProt ID | Q8TAE6 |
| OMIM ID | 612147 |
| HGNC ID | 28952 |
| Aliases | CPI-17-like, KEPI, PPP1R14C |
Description
PPP1R14C (protein phosphatase 1 regulatory inhibitor subunit 14C) encodes a member of the PPP1R14 family of protein phosphatase 1 (PP1) inhibitors. The protein contains a PP1-binding motif and inhibits PP1 activity, thereby regulating diverse cellular processes including smooth muscle contraction, cell cycle, and signal transduction. It is also known as CPI-17-like or KEPI.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of PPP1R14C may enhance PP1 inhibition, promoting oncogenic signaling. | COSMIC; PMID: 23542377 |
| Colorectal cancer | Altered expression linked to tumor progression via PP1 pathway dysregulation. | COSMIC; PMID: 25691885 |
| Lung cancer | Somatic mutations and expression changes observed in lung adenocarcinoma. | COSMIC; PMID: 26619011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 8.7 | Low |
| Liver | 3.4 | Low |
| Kidney | 12.1 | Medium |
| Testis | 22.5 | High |
| Skeletal muscle | 6.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.3 | Moderate expression |
| HeLa | 9.5 | Low expression |
| MCF7 | 14.7 | Moderate expression |
| A549 | 11.2 | Moderate expression |
| K562 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown; predicted benign |
| c.341G>A (p.Arg114His) | Missense | <0.01% | Unknown; predicted tolerated |
| c.424_425insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.424_425insA) are predicted to cause premature truncation and loss of PP1 inhibitory activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for PPP1R14C.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004864 - protein phosphatase inhibitor activity | • GO:0005515 - protein binding |
| • GO:0005737 - cytoplasm | • GO:0005829 - cytosol |
| • GO:0010921 - regulation of phosphatase activity | • GO:0030154 - cell differentiation |
| • GO:0043086 - negative regulation of catalytic activity |
Pathways
• Protein phosphatase 1 regulatory network (Reactome: R-HSA-163615)
• Smooth muscle contraction (Reactome: R-HSA-445355)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
PPP1R14C is a 147-amino acid protein (UniProt Q8TAE6) that belongs to the PPP1R14 family. It contains a conserved PP1-binding motif (KVKF) and inhibits serine/threonine protein phosphatase 1 (PP1) activity. The protein is predominantly cytoplasmic and is involved in regulating smooth muscle contraction and cell signaling. Expression is highest in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R14C Knockout HEK293 Cell Line | EDJ-KQ9742 | Human | 81706 | Details Get a Quote |
| PPP1R14C Knockout HCT 116 Cell Line | EDJ-KQ36571 | Human | 81706 | Details Get a Quote |
| PPP1R14C Knockout HeLa Cell Line | EDJ-KQ57410 | Human | 81706 | Details Get a Quote |
| PPP1R14C Knockout A-549 Cell Line | EDJ-KQ65917 | Human | 81706 | Details Get a Quote |
| PPP1R14C Knockout HAP1 Cell Line | EDC08112 | Human | 81706 | Details Get a Quote |
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