XIRP1 Gene Summary [Human]
The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | XIRP1 |
| Official Name | xin actin binding repeat containing 1 [Source:HGNC Symbol;Acc:HGNC:14301] |
| Ensembl ID | ENSG00000168334 |
| Bio databases IDs | |
| Aliases | xin actin binding repeat containing 1 |
| Synonyms | CMYA1, XIN, xin actin-binding repeat containing 1 |
| 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 XIRP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- cytoskeletal protein binding
- protein binding
- Xin repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary microcephaly
- Waldenström macroglobulinemia
- growth failure
- cardiac fibrosis
- cardiac hypertrophy
role in cell
- proliferation
- organization
- abnormal morphology
- transmembrane potential
- development
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
- focal adhesions
- intercellular junctions
- cell-cell contacts
- actin stress fibers
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XIRP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization
- actin filament organization
- myoblast cell differentiation involved in skeletal muscle regeneration
- satellite cell activation involved in skeletal muscle regeneration
- negative regulation of protein binding
Cellular Component
Where in the cell the gene product is active
- adherens junction
- focal adhesion
- stress fiber
- desmosome
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- RNA binding
- protein binding