PPP1R14A
Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A
Gene Information Card
| Symbol | PPP1R14A |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.1 |
| NCBI Gene ID | 94274 ncbi.nlm.nih.gov/gene/94274 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q96A00 |
| OMIM ID | 608153 |
| HGNC ID | 28948 |
| Aliases | CPI-17, PPP1INL, C17orf26 |
Description
PPP1R14A encodes a protein phosphatase 1 (PP1) regulatory subunit that specifically inhibits PP1 activity when phosphorylated. It is highly expressed in smooth muscle and plays a key role in regulating smooth muscle contraction by modulating myosin light chain phosphorylation. The gene is also implicated in cancer cell migration and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and phosphorylation of CPI-17 affect PP1 activity, influencing cell motility and tumor progression | PMID: 21502515 |
| Smooth muscle disorders | Dysregulation of PP1 inhibition via CPI-17 may contribute to abnormal contractility | PMID: 14645221 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | High | High |
| Heart | Low | Low |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| A549 | 1.2 | Moderate expression |
| HUVEC | 3.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146C>T (p.Pro49Leu) | Missense | <0.01% | Unknown functional effect |
| c.200G>A (p.Arg67His) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004864 - protein phosphatase inhibitor activity | • GO:0005515 - protein binding |
| • GO:0005737 - cytoplasm | • GO:0006936 - muscle contraction |
| • GO:0030154 - cell differentiation |
Pathways
• Smooth muscle contraction pathway (Reactome: R-HSA-397014)
• Regulation of myosin light chain phosphorylation
Protein Summary
CPI-17 (PKC-potentiated phosphatase inhibitor of 17 kDa) is a 147-amino acid protein that, upon phosphorylation at Thr38 by protein kinase C or other kinases, becomes a potent and specific inhibitor of protein phosphatase 1 catalytic subunit (PP1c). This inhibition enhances myosin light chain phosphorylation, promoting smooth muscle contraction. CPI-17 is also implicated in cytoskeletal dynamics and cancer cell invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R14A Knockout HEK293 Cell Line | EDJ-KQ10617 | Human | 94274 | Details Get a Quote |
| PPP1R14A Knockout A-549 Cell Line | EDJ-KQ39432 | Human | 94274 | Details Get a Quote |
| PPP1R14A Knockout HeLa Cell Line | EDJ-KQ57890 | Human | 94274 | Details Get a Quote |
| PPP1R14A Knockout HCT 116 Cell Line | EDJ-KQ74810 | Human | 94274 | Details Get a Quote |
| PPP1R14A Knockout HAP1 Cell Line | EDC08372 | Human | 94274 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
