SF3A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | SF3A1, PRP21, PRPF21, SAP114, SF3A120, splicing factor 3a subunit 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605595; MGI: 1914715; HomoloGene: 4294; GeneCards: SF3A1; OMA:SF3A1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6]
SF3A1 has been shown to interact with SF3A3[7][8] and CDC5L.[9]
This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it. |