PHACTR1
Phosphatase and Actin Regulator 1
Gene Information Card
| Symbol | PHACTR1 |
|---|---|
| Full Name | Phosphatase and Actin Regulator 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p24.1 |
| NCBI Gene ID | 221692 ncbi.nlm.nih.gov/gene/221692 |
| Ensembl ID | ENSG00000112137 |
| UniProt ID | Q9C0D0 |
| OMIM ID | 608723 |
| HGNC ID | 20990 |
| Aliases | RP1-272L16.1, FLJ10781, PPP1R168 |
Description
PHACTR1 encodes a protein that binds actin and regulates the activity of protein phosphatase 1 (PP1). It is involved in cytoskeletal organization, cell motility, and vascular development. Genetic variants in PHACTR1 are associated with coronary artery disease, migraine, and other vascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Risk variants at 6p24.1 affect PHACTR1 expression and endothelial function | GWAS (PMID: 21378988, 26343387) |
| Migraine (with aura) | PHACTR1 variants influence vascular tone and cortical spreading depression | GWAS (PMID: 22441327, 23793025) |
| Cervical artery dissection | PHACTR1 risk alleles predispose to arterial wall weakness | GWAS (PMID: 29500305) |
| Fibromuscular dysplasia | PHACTR1 locus associated with arterial dysplasia | GWAS (PMID: 27672032) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Artery | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Brain | 6.5 | Low |
| Lung | 5.2 | Low |
| Skeletal muscle | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.4 | High expression |
| Aortic smooth muscle cells | 11.2 | Medium expression |
| HEK 293 | 4.8 | Low expression |
| HeLa | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs9349379 (G>A) | SNV | Population frequency ~0.40 (G allele) | Risk allele for CAD and migraine; alters PHACTR1 expression |
| rs12526453 (C>G) | SNV | Population frequency ~0.30 (C allele) | Associated with coronary artery calcification |
| rs11172113 (T>C) | SNV | Population frequency ~0.45 (T allele) | Protective for migraine |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease; experimental knockdown in cells reduces cell migration.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein phosphatase 1 binding |
| • regulation of protein dephosphorylation | • actin cytoskeleton organization |
| • cell migration | • vascular development |
Pathways
• Protein phosphatase 1 regulatory network
• Actin cytoskeleton regulation
• Endothelial cell migration
Protein Summary
The PHACTR1 protein contains an RPEL domain that mediates actin binding and a PP1-binding motif. It shuttles between nucleus and cytoplasm in response to actin dynamics, regulating PP1 activity and influencing cell shape, motility, and gene expression. It is highly expressed in vascular tissues and plays a critical role in arterial integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHACTR1 Knockout HEK293 Cell Line | EDJ-KQ8866 | Human | 221692 | Details Get a Quote |
| PHACTR1 Knockout HeLa Cell Line | EDJ-KQ59175 | Human | 221692 | Details Get a Quote |
| PHACTR1 Knockout A-549 Cell Line | EDJ-KQ67647 | Human | 221692 | Details Get a Quote |
| PHACTR1 Knockout HCT 116 Cell Line | EDJ-KQ76033 | Human | 221692 | Details Get a Quote |
