SF3B3 Gene Summary [Human]
This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SF3B3 |
| Official Name | splicing factor 3b subunit 3 [Source:HGNC Symbol;Acc:HGNC:10770] |
| Ensembl ID | ENSG00000189091 |
| Bio databases IDs | |
| Aliases | splicing factor 3b subunit 3, spliceosome-associated protein 130 |
| Synonyms | 1810061H24Rik, 5730409A01Rik, D8ERTD633E, mKIAA0017, RSE1, SAP130, SF3b130, splicing factor 3b subunit 3, splicing factor 3b, subunit 3, STAF130 |
| 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 SF3B3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- activation domain
- binding protein
- Mono-functional DNA-alkylating methyl methanesulfonate N-term
- protein binding
- CPSF A subunit region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- breast cancer
- infection by Influenza A virus subtype H1N1
role in cell
- expression in
- cell death
- growth
- survival
- cell viability
- Clathrin mediated endocytosis by
- splicing by
- phosphorylation in
- splicing in
- homologous recombination 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.
- Nucleus
- nuclear fraction
- catalytic step 2 spliceosome
- spliceosomes
- nucleoplasm
- nucleoli
- interchromatin granule clusters
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SF3B3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing, via transesterification reactions
- RNA splicing
- positive regulation of transcription, DNA-dependent
- regulation of RNA splicing
- regulation of DNA repair
- negative regulation of protein catabolic process
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- U12-type spliceosomal complex
- catalytic step 2 spliceosome
- spliceosomal complex
- U2-type spliceosomal complex
- U2-type precatalytic spliceosome
- U2 snRNP
- nucleolus
- SAGA complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- U2 snRNA binding