PPP1R9A Gene Summary [Human]
This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | PPP1R9A |
| Official Name | protein phosphatase 1 regulatory subunit 9A [Source:HGNC Symbol;Acc:HGNC:14946] |
| Ensembl ID | ENSG00000158528 |
| Bio databases IDs | |
| Aliases | protein phosphatase 1 regulatory subunit 9A |
| Synonyms | 2810430P21RIK, 4930518N04Rik, 5330407E15, A230094E16Rik, Nb, Neb1, Neurabin1, Neurabin-I, Nrb, NRB1, NRBI, p180, PP1bp175, protein phosphatase 1 regulatory subunit 9A, protein phosphatase 1, regulatory subunit 9A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPP1R9A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein kinase binding
- SAM domain
- SAM (Sterile alpha motif )
- canonical PDZ domain
- enzyme binding
- PP1 binding domain
- coiled-coil domain
- protein domain specific binding
- protein binding
- PDZ domain
- identical protein binding
- actin filament binding
- Sterile alpha motif
- actin-binding domain
- F-actin binding domain
- protein phosphatase 1 binding
- binding protein
- SAM domain (Sterile alpha motif)
- ion channel binding
- cpPDZ_Deg_HtrA-like
- Domain of unknown function (DUF4472)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- coronary artery disease
- insomnia
- seizures
role in cell
- survival
- cell death
- density
- long-term potentiation
- formation
- development
- maturation
- function
- synaptic transmission
- disassembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- postsynaptic density (PSD) fractions
- glutaminergic synapse
- cortical actin cytoskeleton
- cytoskeleton
- Cytoplasm
- actin cytoskeleton
- dendritic spines
- dendritic spine neck
- neuromuscular junctions
- growth cone
- neurites
- synaptosomes
- filopodia
- perikaryon
- dendrites
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPP1R9A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron projection development
- actin filament organization
- regulation of synaptic transmission
- calcium-mediated signaling
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendrite
- cytoplasm
- dendritic spine
- actin cytoskeleton
- filopodium
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding