Entrez gene ID | | 10291 |
Official gene symbol | | SF3A1 |
Full name | | splicing factor 3a, subunit 1, 120kDa |
Aliases | | ,PRP21,PRPF21,SAP114,SF3A120, |
Gene summary | | This gene encodes subunit 1 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 1 belongs to the SURP protein family; named for the SURP (also called SWAP or Suppressor-of-White-APricot) motifs that are thought to mediate RNA binding. Subunit 1 has tandemly repeated SURP motifs in its amino-terminal half while its carboxy-terminal half contains a proline-rich region and a ubiquitin-like domain. Binding studies with truncated subunit 1 derivatives demonstrated that the two SURP motifs are necessary for binding to subunit 3 while contacts with subunit 2 may occur through sequences carboxy-terminal to the SURP motifs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q12.2 |
Gene position | | 30752913 - 30727977 Map Viewer |
Gene orientation | | minus |
Gene size | | 24937 bp |
Gene sequence |
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OMIM ID | | 605595 |