SF1 Chromosome 11

Splicing factor 1
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers CCHC-type|Spliceosomal A complex|Spliceosomal E complex"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000168066
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1430022410 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
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