ESRP1 Gene Summary [Human]
ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
Details
| Type | Protein Coding |
| Official Symbol | ESRP1 |
| Official Name | epithelial splicing regulatory protein 1 [Source:HGNC Symbol;Acc:HGNC:25966] |
| Ensembl ID | ENSG00000104413 |
| Bio databases IDs | |
| Aliases | epithelial splicing regulatory protein 1 |
| Synonyms | 2210008M09Rik, A630065D16, DFNB109, epithelial splicing regulatory protein 1, RBM35A, RGD1560481, RMB35A |
| 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 ESRP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
- RNA recognition motif
- mRNA binding
- 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
- metastasis
- prostate cancer
- colorectal cancer
- epithelial cancer
- squamous cell lung cancer
- germ cell neoplasia
- non-insulin-dependent diabetes mellitus
- epithelial uterine cancer
- cleft soft palate
- autosomal recessive deafness type 109
role in cell
- proliferation
- expression in
- growth
- invasion by
- migration
- splicing in
- invasion
- differentiation
- motility
- epithelial-mesenchymal transition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESRP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of auditory receptor cell fate specification
- RNA splicing
- regulation of RNA splicing
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- mRNA binding