Entrez Summary: This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
CwfJ C 1
CwfJ C 2
GO Terms
RNA lariat debranching enzyme activator activity
post-mRNA release spliceosomal complex
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile
mRNA splicing, via spliceosome
RNA splicing, via transesterification reactions
RNA splicing
cellular component
mRNA processing
mRNA metabolic process
molecular function
RNA processing
positive regulation of catalytic activity
RNA metabolic process
positive regulation of molecular function
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)