PHACTR4
Phosphatase and Actin Regulator 4
Gene Information Card
| Symbol | PHACTR4 |
|---|---|
| Full Name | phosphatase and actin regulator 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.3 |
| NCBI Gene ID | 65979 ncbi.nlm.nih.gov/gene/65979 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q8IZ21 |
| OMIM ID | 608723 |
| HGNC ID | 21057 |
| Aliases | FLJ11029, PP1-197, PPP1R197 |
Description
PHACTR4 (phosphatase and actin regulator 4) encodes a member of the PHACTR family of proteins that bind actin and regulate the activity of protein phosphatase 1 (PP1). The protein contains an N-terminal RPEL domain and a C-terminal PP1-binding motif, and is involved in cytoskeletal dynamics, cell migration, and synaptic function. PHACTR4 is widely expressed, with highest levels in brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of PHACTR4 may impair synaptic actin regulation and PP1 signaling, affecting neuronal plasticity. | ClinVar; OMIM |
| Autism spectrum disorder | Rare variants in PHACTR4 have been identified in ASD cohorts, suggesting a role in neurodevelopment. | ClinVar; literature |
| Cancer (breast, lung) | Altered PHACTR4 expression may influence cell migration and invasion through actin cytoskeleton remodeling. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Heart | 6.2 | Low |
| Lung | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HeLa (cervical carcinoma) | 8.5 | Epithelial |
| A549 (lung carcinoma) | 5.2 | Lung cancer line |
| MCF7 (breast carcinoma) | 4.8 | Breast cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown; predicted benign |
| c.1234delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants are predicted to cause loss of function, potentially affecting actin binding and PP1 regulation.
Gain of Function (GOF)
No gain-of-function variants have been reported for PHACTR4.
Dominant Negative (DN)
No dominant-negative variants have been characterized for PHACTR4.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein phosphatase 1 binding |
| • regulation of protein dephosphorylation | • actin cytoskeleton organization |
| • cell migration |
Pathways
• Actin cytoskeleton regulation
• PP1 signaling
Protein Summary
PHACTR4 is a 669-amino acid protein that binds actin and protein phosphatase 1 (PP1). It localizes to the cytoplasm and is involved in actin filament dynamics, cell motility, and synaptic plasticity. The protein contains an N-terminal RPEL domain that mediates actin binding and a C-terminal PP1-binding motif that regulates phosphatase activity. PHACTR4 is highly expressed in brain and testis, and its dysregulation has been linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHACTR4 Knockout HEK293 Cell Line | EDJ-KQ14740 | Human | 65979 | Details Get a Quote |
| PHACTR4 Knockout HeLa Cell Line | EDJ-KQ43873 | Human | 65979 | Details Get a Quote |
| PHACTR4 Knockout A-549 Cell Line | EDJ-KQ45091 | Human | 65979 | Details Get a Quote |
| PHACTR4 Knockout HCT 116 Cell Line | EDJ-KQ45092 | Human | 65979 | Details Get a Quote |
| PHACTR4 Knockout HEK293T Cell Line | EDC90281 | Human | 65979 | Details Get a Quote |
