PPP1R9A Gene - Protein Phosphatase 1 Regulatory Subunit 9A
Neural tissue-specific regulator of protein phosphatase 1 involved in actin cytoskeleton dynamics and synaptic plasticity.
Gene Information Card
| Symbol | PPP1R9A |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 9A |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 55607 ncbi.nlm.nih.gov/gene/55607 |
| Ensembl ID | ENSG00000106524 |
| UniProt ID | Q9ULJ7 |
| OMIM ID | 602468 |
| HGNC ID | 9287 |
| Aliases | Neurabin-I, KIAA0368, PPP1R9, FLJ20010 |
Description
PPP1R9A encodes neurabin-I, a neural tissue-specific F-actin binding protein that targets protein phosphatase 1 (PP1) to specific subcellular compartments. It regulates actin cytoskeleton reorganization, dendritic spine morphogenesis, and synaptic plasticity. The protein contains an N-terminal PP1-binding motif, a PDZ domain, and a C-terminal coiled-coil region. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered PPP1R9A expression may disrupt PP1 signaling and synaptic actin dynamics, contributing to cognitive deficits. | Association studies (PMID: 19012874); differential expression in postmortem brain. |
| Autism Spectrum Disorder | Rare copy number variants and missense mutations in PPP1R9A have been identified in ASD cohorts. | Whole-exome sequencing studies (PMID: 25363760). |
| Intellectual Disability | De novo loss-of-function variants reported in individuals with ID. | ClinVar and literature (PMID: 28135719). |
| Breast Cancer | PPP1R9A overexpression correlates with poor prognosis; promotes cell migration via actin remodeling. | COSMIC mutation data; expression analysis in tumor samples (PMID: 23454898). |
| Colorectal Cancer | Somatic mutations and altered expression linked to tumor progression. | COSMIC; TCGA data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 45.2 | High |
| Cerebellum | 38.7 | High |
| Testis | 12.3 | Medium |
| Heart | 5.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.5 | Neuronal model |
| U-87 MG (glioblastoma) | 28.1 | Glial model |
| HeLa (cervical carcinoma) | 6.4 | Low expression |
| MCF7 (breast cancer) | 18.9 | Moderate expression |
| HCT116 (colorectal carcinoma) | 22.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of PP1-binding domain |
| c.567G>A (p.Glu189Lys) | Missense | 0.02% | Altered actin binding affinity |
| c.2101_2103del (p.Lys701del) | In-frame deletion | <0.01% | Disrupted coiled-coil domain |
| c.3456+1G>A | Splice donor | <0.01% | Exon skipping, frameshift |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*) that truncate the protein and abolish PP1 binding or actin interaction.
Gain of Function (GOF)
Not well documented; some missense variants may enhance actin binding or alter PP1 targeting.
Dominant Negative (DN)
In-frame deletions in the coiled-coil region (e.g., p.Lys701del) may interfere with dimerization and normal function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PP1 signaling (Reactome: R-HSA-163615)
• Actin cytoskeleton regulation (KEGG: hsa04810)
• Synaptic plasticity (WP: WP3930)
Protein Summary
Neurabin-I (UniProt Q9ULJ7) is a 1095-amino acid protein that binds F-actin and targets PP1 to actin-rich structures. It contains a PP1-binding motif (KVQF), a PDZ domain, and a coiled-coil region. The protein is highly expressed in brain, especially in dendritic spines, and modulates synaptic strength. Isoforms generated by alternative splicing differ in their C-terminal regions. Post-translational modifications include phosphorylation by PKA and CaMKII, which regulate its localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R9A Knockout HEK293 Cell Line | EDJ-KQ14115 | Human | 55607 | Details Get a Quote |
| PPP1R9A Knockout A-549 Cell Line | EDJ-KQ45304 | Human | 55607 | Details Get a Quote |
| PPP1R9A Knockout HCT 116 Cell Line | EDJ-KQ45305 | Human | 55607 | Details Get a Quote |
| PPP1R9A Knockout HeLa Cell Line | EDJ-KQ45306 | Human | 55607 | Details Get a Quote |
