Description: Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. RefSeq Summary (NM_014014): Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]. Transcript (Including UTRs) Position: hg19 chr2:96,940,074-96,971,307 Size: 31,234 Total Exon Count: 45 Strand: - Coding Region Position: hg19 chr2:96,940,750-96,971,175 Size: 30,426 Coding Exon Count: 45
ID:U520_HUMAN DESCRIPTION: RecName: Full=U5 small nuclear ribonucleoprotein 200 kDa helicase; EC=3.6.4.13; AltName: Full=Activating signal cointegrator 1 complex subunit 3-like 1; AltName: Full=BRR2 homolog; AltName: Full=U5 snRNP-specific 200 kDa protein; Short=U5-200KD; FUNCTION: 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. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: U5 snRNP contains nine specific proteins with molecular weights of 40, 52, 100, 102, 110, 116, 200 and 220 kDa. Identified in the spliceosome C complex. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed. DOMAIN: Composed of two similar domains. DISEASE: Defects in SNRNP200 are the cause of retinitis pigmentosa type 33 (RP33) [MIM:610359]. 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. SIMILARITY: Belongs to the helicase family. SKI2 subfamily. SIMILARITY: Contains 2 helicase ATP-binding domains. SIMILARITY: Contains 2 helicase C-terminal domains. SIMILARITY: Contains 2 SEC63 domains. SEQUENCE CAUTION: Sequence=BAB14906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75643
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AB018331 - Homo sapiens mRNA for KIAA0788 protein, partial cds. JD151172 - Sequence 132196 from Patent EP1572962. BC131784 - Homo sapiens small nuclear ribonucleoprotein 200kDa (U5), mRNA (cDNA clone IMAGE:40125532), complete cds. JD474018 - Sequence 455042 from Patent EP1572962. AF085356 - Homo sapiens putative RNA helicase mRNA, complete cds. AL831994 - Homo sapiens mRNA; cDNA DKFZp451J103 (from clone DKFZp451J103). AK023840 - Homo sapiens cDNA FLJ13778 fis, clone PLACE4000431, highly similar to H.sapiens gene for U5 snRNP-specific 200kD protein. AY572488 - Homo sapiens 200 kDa U5 snRNP-specific spliceosomal protein (BRR2) mRNA, complete cds. AK090671 - Homo sapiens cDNA FLJ33352 fis, clone BRACE2005087, weakly similar to PRE-MRNA SPLICING HELICASE BRR2 (EC 3.6.1.-). AX746566 - Sequence 91 from Patent EP1308459. AF119874 - Homo sapiens PRO2281 mRNA, complete cds. BC001417 - Homo sapiens small nuclear ribonucleoprotein 200kDa (U5), mRNA (cDNA clone IMAGE:3140321), partial cds. AK026662 - Homo sapiens cDNA: FLJ23009 fis, clone LNG00463, highly similar to AF085356 Homo sapiens putative RNA helicase mRNA. BC007577 - Homo sapiens small nuclear ribonucleoprotein 200kDa (U5), mRNA (cDNA clone IMAGE:3139787), partial cds. BC065924 - Homo sapiens small nuclear ribonucleoprotein 200kDa (U5), mRNA (cDNA clone IMAGE:6048229), partial cds. BC112891 - Homo sapiens small nuclear ribonucleoprotein 200kDa (U5), mRNA (cDNA clone IMAGE:6042731), partial cds. AK024391 - Homo sapiens cDNA FLJ14329 fis, clone PLACE4000259, highly similar to H.sapiens gene for U5 snRNP-specific 200kD protein. AK303663 - Homo sapiens cDNA FLJ55548 complete cds, highly similar to U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.1.-). JD152586 - Sequence 133610 from Patent EP1572962. JD367152 - Sequence 348176 from Patent EP1572962. JD240050 - Sequence 221074 from Patent EP1572962. JD411638 - Sequence 392662 from Patent EP1572962. JD476588 - Sequence 457612 from Patent EP1572962. JD280701 - Sequence 261725 from Patent EP1572962. AK303465 - Homo sapiens cDNA FLJ56901 complete cds, highly similar to U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.1.-). AK021418 - Homo sapiens cDNA FLJ11356 fis, clone HEMBA1000150, highly similar to Homo sapiens putative RNA helicase mRNA. AK021583 - Homo sapiens cDNA FLJ11521 fis, clone HEMBA1002486. AJ844618 - Homo sapiens partial mRNA for activating signal cointegrator 1 complex subunit 3-like 1 (ASCC3L1 gene). JD372037 - Sequence 353061 from Patent EP1572962. JD302763 - Sequence 283787 from Patent EP1572962. JD548697 - Sequence 529721 from Patent EP1572962. JD337849 - Sequence 318873 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein O75643 (Reactome details) participates in the following event(s):
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-75081 Formation of AT-AC B Complex R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage R-HSA-75079 Formation of AT-AC C complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72165 mRNA Splicing - Minor Pathway R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
