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 and is required for the early stages of spliceosome assembly. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
GeneCards Summary for SF1 Gene
SF1 (Splicing Factor 1) is a Protein Coding gene. Diseases associated with SF1 include 46xy sex reversal 3 and premature ovarian failure 7. Among its related pathways are Oct4 in Mammalian ESC Pluripotency. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is KHDRBS1.
UniProtKB/Swiss-Prot 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.