CELF1 Gene Summary [Human]
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CELF1 |
| Official Name | CUGBP Elav-like family member 1 [Source:HGNC Symbol;Acc:HGNC:2549] |
| Ensembl ID | ENSG00000149187 |
| Bio databases IDs | |
| Aliases | CUGBP Elav-like family member 1, CUG RNA-binding protein, nuclear polyadenylated RNA-binding protein, 50-kD, bruno-like 2, embryo deadenylation element binding protein |
| Synonyms | 1600010O03RIK, BRUNOL2, CUG-BP, CUG-BP1, CUGBP Elav-like family member 1, CUGBP, Elav-like family member 1, D2Wsu101e, EDEN-BP, HNAB50, NAB50, NAPOR |
| 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 CELF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ELAV/HuD family splicing factor
- RNA recognition motif (RRM) superfamily
- mRNA 3' UTR binding
- RNA recognition motif
- mRNA binding
- BRE binding
- protein binding
- translation regulator
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- Alzheimer disease
- liver neoplasm
- liver neoplasia
- non-insulin-dependent diabetes mellitus
- nonlobar intracerebral hemorrhage
- overnutrition
role in cell
- expression in
- proliferation
- apoptosis
- binding in
- production in
- cell cycle progression
- degeneration
- development
- alternative splicing by
- upregulation in
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
- Nucleus
- polysomes
- perinucleolar compartments
- nucleoplasm
- stress granule
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CELF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- germ cell development
- mRNA destabilization
- posttranscriptional gene silencing by RNA
- embryo development ending in birth or egg hatching
- negative regulation of cell proliferation
- mRNA splice site selection
- mRNA processing
- negative regulation of gene expression
- regulation of alternative nuclear mRNA splicing, via spliceosome
- regulation of RNA splicing
- positive regulation of gene expression
- regulation of inflammatory response
- posttranscriptional gene silencing
- negative regulation of translation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasmic stress granule
- cytoplasm
- membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- pre-mRNA binding
- BRE binding
- protein binding
- RNA binding
- translation repressor activity, nucleic acid binding
- mRNA binding
- mRNA 3'-UTR binding