PPP1R12A
Protein Phosphatase 1 Regulatory Subunit 12A
Gene Information Card
| Symbol | PPP1R12A |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 12A |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.2 |
| NCBI Gene ID | 4659 ncbi.nlm.nih.gov/gene/4659 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O14974 |
| OMIM ID | 602021 |
| HGNC ID | 9289 |
| Aliases | MYPT1, M130, MBS, PPP1R12A |
Description
PPP1R12A encodes the myosin phosphatase target subunit 1 (MYPT1), a regulatory subunit of protein phosphatase 1 (PP1). It targets PP1 to dephosphorylate myosin light chain, regulating smooth muscle contraction and actin cytoskeleton dynamics. The gene is located on chromosome 12q21.2 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and mutations in PPP1R12A disrupt PP1 targeting, affecting cell contractility and migration, contributing to tumor progression. | COSMIC, ClinVar |
| Aortic aneurysm | Loss-of-function variants in PPP1R12A impair smooth muscle contraction, leading to aortic wall weakness. | ClinVar, OMIM |
| Intellectual disability | De novo missense mutations in PPP1R12A are associated with neurodevelopmental phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | High | High |
| Heart | Moderate | Medium |
| Brain | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical carcinoma |
| A549 | 8.5 | Lung carcinoma |
| HUVEC | 12.1 | Endothelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Loss of function |
| c.2023G>A (p.Glu675Lys) | Missense | Rare | Unknown |
| c.1234delC | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt PP1 binding lead to loss of myosin phosphatase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the PP1-binding domain may act dominant-negative by sequestering PP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein phosphatase binding (GO:0019903) |
| • actomyosin structure organization (GO:0031032) | • actin filament-based movement (GO:0051015) |
| • cytosol (GO:0005829) |
Pathways
• Smooth muscle contraction (Reactome R-HSA-445355)
• Regulation of actin cytoskeleton (KEGG hsa04810)
• Protein phosphatase 1 regulatory network (Reactome R-HSA-163615)
Protein Summary
MYPT1 (UniProt O14974) is a 1030-amino acid protein that contains ankyrin repeats and a PP1-binding motif. It targets PP1 to dephosphorylate myosin light chain, thereby regulating smooth muscle contraction. MYPT1 also interacts with RhoA and other signaling molecules to modulate cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R12A Knockout HEK293 Cell Line | EDJ-KQ50460 | Human | 4659 | Details Get a Quote |
| PPP1R12A Knockout HeLa Cell Line | EDJ-KQ53956 | Human | 4659 | Details Get a Quote |
| PPP1R12A Knockout A-549 Cell Line | EDJ-KQ62447 | Human | 4659 | Details Get a Quote |
| PPP1R12A Knockout HCT 116 Cell Line | EDJ-KQ70912 | Human | 4659 | Details Get a Quote |
