Aliases for SF1 Gene
External Ids for SF1 Gene
Previous HGNC Symbols for SF1 Gene
Previous GeneCards Identifiers for SF1 Gene
This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
GeneCards Summary for SF1 Gene
SF1 (Splicing Factor 1) is a Protein Coding gene. Diseases associated with SF1 include Multiple Endocrine Neoplasia, Type I and Brain Meningioma. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is QKI.
UniProtKB/Swiss-Prot Summary for SF1 Gene
Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor.