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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PHACTR1
phosphatase and actin regulator 1
Chromosome 6 · 6p24.1
NCBI Gene: 221692Ensembl: ENSG00000112137.19HGNC: HGNC:20990UniProt: A0A6Q8PFA8
87PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell motilityprotein bindingactomyosin structure organizationstress fiber assemblygenetic developmental and epileptic encephalopathycoronary artery diseasemyocardial infarctionmigraine disorder
✦AI Summary

PHACTR1 (phosphatase and actin regulator 1) is a multifunctional actin-binding protein with critical roles in cardiovascular and pulmonary homeostasis. The protein binds G-actin monomers and regulates actin cytoskeleton dynamics, stress fiber formation, and cell motility 12. PHACTR1 exists as multiple splice variants with tissue-specific expression patterns, including brain-specific long transcripts and intermediate transcripts enriched in vascular tissues 3. In endothelial cells, PHACTR1 functions as a PPARγ transcriptional corepressor that promotes endothelial activation and atherosclerosis under disturbed flow conditions 4. The protein translocates from the nucleus under laminar flow to the cytoplasm, modulating its transcriptional activity. Conversely, HEG1 facilitates CUL3-mediated degradation of PHACTR1, promoting eNOS transcription and vasodilation 5. In pulmonary fibrosis, PHACTR1 knockdown inhibits α-SMA and collagen expression in TGF-β-induced fibroblasts, with PHACTR1 knockout reducing inflammation and fibrosis in bleomycin-induced models 6. Genetically, PHACTR1 SNPs, particularly rs9349379, are associated with coronary artery disease, pulse pressure, and myocardial infarction risk in multiple populations 789. These associations suggest PHACTR1 as a key therapeutic target for cardiovascular and pulmonary diseases.

Sources cited
1
PHACTR1 binds actin monomers and regulates actin cytoskeleton dynamics
PMID: 21798305
2
PHACTR1 plays roles in stress fiber formation, cell motility, and PPP1CA regulation
PMID: 21939755
3
PHACTR1 has multiple splice isoforms with tissue-specific expression; rs9349379 is an eQTL for intermediate transcripts in coronary arteries
PMID: 29884117
4
Endothelial PHACTR1 functions as PPARγ corepressor promoting atherosclerosis under disturbed flow; PHACTR1 localizes to nucleus in disturbed flow but shuttles to cytoplasm under laminar flow
PMID: 37199156
5
HEG1 facilitates CUL3-mediated PHACTR1 degradation; PHACTR1 nuclear accumulation suppresses SP1-mediated eNOS transcription and NO production
PMID: 40986512
6
PHACTR1 knockdown inhibits α-SMA and collagen in TGF-β-induced fibroblasts; PHACTR1 knockout reduces inflammation and collagen in bleomycin-induced pulmonary fibrosis
PMID: 39748378
7
PHACTR1 rs9349379 and rs499818 polymorphisms are associated with elevated pulse pressure in Chinese population
PMID: 32420588
8
Multiple PHACTR1 SNPs including rs9349379 are associated with reduced coronary artery disease risk
PMID: 27893421
9
PHACTR1 regulates skeletal to cardiac α-actin isoform ratio; MI-associated PHACTR1 alleles affect cardiac function
PMID: 26098115
Disease Associationsⓘ21
genetic developmental and epileptic encephalopathyOpen Targets
0.64Moderate
coronary artery diseaseOpen Targets
0.52Moderate
myocardial infarctionOpen Targets
0.51Moderate
migraine disorderOpen Targets
0.50Moderate
angina pectorisOpen Targets
0.48Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
Myocardial IschemiaOpen Targets
0.44Moderate
heart diseaseOpen Targets
0.44Moderate
coronary atherosclerosisOpen Targets
0.43Moderate
HeadacheOpen Targets
0.43Moderate
atherosclerosisOpen Targets
0.42Moderate
heart failureOpen Targets
0.42Moderate
intermediate coronary syndromeOpen Targets
0.40Moderate
coronary artery calcificationOpen Targets
0.39Weak
cervical artery dissectionOpen Targets
0.39Weak
infantile spasmsOpen Targets
0.37Weak
cardioverter defibrillatorOpen Targets
0.37Weak
spontaneous coronary artery dissectionOpen Targets
0.36Weak
PainOpen Targets
0.35Weak
nervous system diseaseOpen Targets
0.34Weak
Developmental and epileptic encephalopathy 70UniProt
Pathogenic Variants6
NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly)Likely pathogenic
Developmental and epileptic encephalopathy, 70
★☆☆☆2024→ Residue 64
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)Likely pathogenic
Developmental and epileptic encephalopathy, 70
★☆☆☆2023→ Residue 70
NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro)Pathogenic
Developmental and epileptic encephalopathy, 70
★☆☆☆2023→ Residue 500
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met)Pathogenic
Developmental and epileptic encephalopathy, 70
★☆☆☆2021→ Residue 466
NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile)Pathogenic
Developmental and epileptic encephalopathy, 70
☆☆☆☆2020→ Residue 479
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)Likely pathogenic
Developmental and epileptic encephalopathy, 70
☆☆☆☆2002→ Residue 426
View on ClinVar ↗
Related Genes
MRTFBProtein interaction94%MRTFAProtein interaction90%ACTA1Protein interaction86%MYOCDProtein interaction80%ADAMTS7Protein interaction70%CDC42BPGShared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
91%
Heart
68%
Lung
27%
Ovary
4%
Liver
3%
Gene Interaction Network
Click a node to explore
PHACTR1MRTFBMRTFAACTA1MYOCDADAMTS7CDC42BPG
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZEG · 1.09 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.14–0.34]
RankingsWhere PHACTR1 stands among ~20K protein-coding genes
  • #5,502of 20,598
    Most Researched87
  • #3,353of 5,498
    Most Pathogenic Variants6
  • #1,428of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedPHACTR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deciphering the cellular and molecular landscape of pulmonary fibrosis through single-cell sequencing and machine learning.
PMID: 39748378
J Transl Med · 2025
1.00
2
PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells.
PMID: 29884117
BMC Med Genet · 2018
0.90
3
Endothelial PHACTR1 Promotes Endothelial Activation and Atherosclerosis by Repressing PPARγ Activity Under Disturbed Flow in Mice.
PMID: 37199156
Arterioscler Thromb Vasc Biol · 2023
0.80
4
Associations between PHACTR1 gene polymorphisms and pulse pressure in Chinese Han population.
PMID: 32420588
Biosci Rep · 2020
0.70
5
Expression and purification of human phosphatase and actin regulator 1 (PHACTR1) in plant-based systems.
PMID: 29894805
Protein Expr Purif · 2018
0.60