Entrez Summary: The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015].
UniProt Summary: Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly. {ECO:0000269|PubMed:10610776}.
Pfam DomainsGO Terms
Pfam Domains
Thioredoxin
DIM1
GO Terms
U5 snRNP
U4/U6 x U5 tri-snRNP complex
U2-type precatalytic spliceosome
spliceosomal complex assembly
spliceosomal complex
ribonucleoprotein complex assembly
nuclear membrane
ribonucleoprotein complex subunit organization
mRNA splicing, via spliceosome
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile
RNA splicing, via transesterification reactions
RNA splicing
ribonucleoprotein complex biogenesis
mRNA processing
cell division
mRNA metabolic process
cellular protein-containing complex assembly
RNA processing
cell cycle
protein-containing complex assembly
RNA metabolic process
protein-containing complex subunit organization
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)