SNRNP200
Domain
Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.
Function
Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome.
Involvement in disease
Retinitis pigmentosa 33
RP33
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the helicase family. SKI2 subfamily.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
Alternative names
ASCC3L1, BRR2, HELIC2, KIAA0788, SNRNP200, U5 small nuclear ribonucleoprotein 200 kDa helicase, Activating signal cointegrator 1 complex subunit 3-like 1, BRR2 homolog, U5 snRNP-specific 200 kDa protein, U5-200KD