PVALB Gene Summary [Human]
The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | PVALB |
| Official Name | parvalbumin [Source:HGNC Symbol;Acc:HGNC:9704] |
| Ensembl ID | ENSG00000100362 |
| Bio databases IDs | |
| Aliases | parvalbumin, parvalbumin alpha |
| Synonyms | alpha-PARVALBUMIN, D22S749, PALB1, Parv, Parvalbumin, PV, Pva, α-PARVALBUMIN |
| 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 PVALB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-Hand
- EF-hand, calcium binding motif
- EF-hand domain
- binding protein
- EF hand
- EF-hand domain pair
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- calcium ion binding
- EFh
- identical protein binding
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
- schizophrenia
- diabetic nephropathy
- amyotrophic lateral sclerosis
- X-linked bulbospinal atrophy
- brain cancer
- medulloblastoma
- kaluresis
- sexual disorder
role in cell
- replication in
- expression in
- proliferation
- length
- relaxation
- abnormal morphology
- signaling in
- complexity
- density
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pinceau synapse
- somatodendritic region
- Plasma Membrane
- cytosol
- stereocilia
- neurites
- nerve ending
- cuticular plate
- stereocilia bundles
- perikaryon
- axons
- dendrites
- axon terminals
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PVALB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gene expression
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- synapse
- axon
Molecular Function
What the gene product does at the molecular level
- calcium ion binding