Gene: SF1
Alternate names for this Gene: BBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162
Gene Summary: 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.
Gene is located in Chromosome: 11
Location in Chromosome : 11q13.1
Description of this Gene: splicing factor 1
Type of Gene: protein-coding
rs606458 in
SF1 gene and
Arthritis, Gouty
PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
rs606458 in
SF1 gene and
Gout
PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
rs606458 in
SF1 gene and
Uric acid measurement (procedure)
PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.