SNIP1 Gene Summary [Human]
This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | SNIP1 |
| Official Name | Smad nuclear interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:30587] |
| Ensembl ID | ENSG00000163877 |
| Bio databases IDs | |
| Aliases | Smad nuclear interacting protein 1, PML1 homolog (yeast) |
| Synonyms | 2410133M08RIK, NEDHCS, NEWGENE 1359268, PML1, PMRED, Smad nuclear interacting protein 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 SNIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FHA domain
- nuclear localization sequence
- Forkhead associated domain
- protein binding
- forkhead associated (FHA) domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psychomotor retardation, epilepsy, and craniofacial dysmorphism
- benign rolandic epilepsy
- metastasis
role in cell
- expression in
- migration
- proliferation
- invasion by
- splicing by
- recruitment in
- interaction in
- accumulation
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
- cytosol
- spliceosomes
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SNIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- production of miRNAs involved in gene silencing by miRNA
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- spliceosomal complex
- cytosol
- U2-type precatalytic spliceosome
- U2 snRNP
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- mRNA binding