U5-200kD Putative RNA helicase involved in the second step of RNA splicing. May promote one or more conformational changes in the dynamic network of RNA-RNA interactions in the spliceosome. Appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Defects in SNRNP200 are the cause of retinitis pigmentosa type 33 (RP33). It is 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. Belongs to the helicase family. SKI2 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.6.4.13; Helicase; RNA processing; RNA splicing; RNA-binding; Spliceosome
Chromosomal Location of Human Ortholog: 2q11.2
Cellular Component:  catalytic step 2 spliceosome; nucleoplasm; nucleus; spliceosomal complex; U4/U6 x U5 tri-snRNP complex; U5 snRNP
Molecular Function:  ATP binding; ATP-dependent helicase activity; ATP-dependent RNA helicase activity; identical protein binding; protein binding
Biological Process:  cis assembly of pre-catalytic spliceosome; mRNA splicing, via spliceosome
Disease: Retinitis Pigmentosa 33
Reference #:  O75643 (UniProtKB)
Alt. Names/Synonyms: Activating signal cointegrator 1 complex subunit 3-like 1; ASCC3L1; BRR2; BRR2 homolog; FLJ11521; HELIC2; KIAA0788; RP33; small nuclear ribonucleoprotein 200kDa (U5); SNRNP200; U5 small nuclear ribonucleoprotein 200 kDa helicase; U5 snRNP-specific 200 kDa protein; U5-200KD; U520
Gene Symbols: SNRNP200
Molecular weight: 244,508 Da
Basal Isoelectric point: 5.73  Predict pI for various phosphorylation states
Select Structure to View Below

U5-200kD

Protein Structure Not Found.


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