SF3B1 Gene Summary [Human]
This gene encodes subunit 1 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. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SF3B1 |
| Official Name | splicing factor 3b subunit 1 [Source:HGNC Symbol;Acc:HGNC:10768] |
| Ensembl ID | ENSG00000115524 |
| Bio databases IDs | |
| Aliases | splicing factor 3b subunit 1 |
| Synonyms | 2810001M05Rik, Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155, Splicing factor 3b, splicing factor 3b subunit 1, splicing factor 3b, subunit 1, TA-8, Targ4 |
| 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 SF3B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HEAT-like repeat
- Splicing factor 3B subunit 1
- chromatin binding
- protein binding
- Spt5 C-terminal nonapeptide repeat binding Spt4
- threonine-proline dipeptide repeat motif
- ULM domain
- 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
- neoplasia
- chronic lymphocytic leukemia
- epithelial cancer
- epithelial neoplasia
- cancer
- digestive system cancer
- schizophrenia
- liver cancer
- liver neoplasia
- abdominal cancer
role in cell
- expression in
- number
- cell death
- proliferation
- apoptosis
- cell viability
- migration
- phosphorylation in
- survival
- G2/M phase
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
- ribosome
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- nuclear matrix
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SF3B1 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
- chromatin remodeling
- RNA splicing
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase III promoter
- spliceosomal complex assembly
- nuclear mRNA splicing, via spliceosome
- positive regulation of transcription from RNA polymerase I promoter
Cellular Component
Where in the cell the gene product is active
- U11/U12 snRNP
- nuclear speck
- spliceosomal complex
- U2-type spliceosomal complex
- U2 snRNP
- nucleolus
- nucleoplasm
- U12-type spliceosomal complex
- nucleus
- catalytic step 2 spliceosome
- U2-type prespliceosome
- U2-type precatalytic spliceosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- mRNA binding