SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNRNP200provided by HGNC
Official Full Name: small nuclear ribonucleoprotein U5 subunit 200provided by HGNC
Primary source: HGNC:HGNC:30859
See related: Ensembl:ENSG00000144028 MIM:601664; AllianceGenome:HGNC:30859
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRR2; RP33; HELIC2; ASCC3L1; U5-200KD
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 33.5), ovary (RPKM 29.9) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q11.2

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (96274338..96305546, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (96780946..96812154, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (96940076..96971284, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects.
Title: PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
Title: Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla.
Title: Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla.
Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2.
Title: Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2.
The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
Title: The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase
Title: FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase.
The phenotype characteristics in autosomal dominant and recessive SNRNP200 mutations show distinct features, with earlier severe disease in the recessive case and a variable disease expression in the dominant inheritance pattern.
Title: Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Title: Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast.
Title: Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
Biochemical and biophysical analyses revealed that an intrinsically disordered region of FBP21 binds to an extended surface of the C-terminal Sec63 unit of Brr2. Additional contacts in the C-terminal helicase cassette are required for allosteric inhibition of Brr2 helicase activity.
Title: A new role for FBP21 as regulator of Brr2 helicase activity.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 33 MedGen: C1835895 OMIM: 610359 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	HIV-1 Rev interacting protein, small nuclear ribonucleoprotein 200kDa (SNRNP200), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SNRNP200 is increased by RRE	PubMed

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33807 (e-PCR)
- UniSTS:77335

D8S2278 (e-PCR)
- UniSTS:473906

G19984 (e-PCR)
- UniSTS:43064

RH10762 (e-PCR)
- UniSTS:87637

D15S1477 (e-PCR)
- UniSTS:474482

G35510 (e-PCR)
- UniSTS:44150

D11S3114 (e-PCR)
- UniSTS:152207

D2S2893 (e-PCR)
- UniSTS:72607

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables RNA helicase activity	TAS Traceable Author Statement more info
enables helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cis assembly of pre-catalytic spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	TAS Traceable Author Statement more info
involved_in negative regulation of mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in spliceosomal snRNP assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of U2-type catalytic step 1 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U4/U6 x U5 tri-snRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of U5 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of small nuclear ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: U5 small nuclear ribonucleoprotein 200 kDa helicase

Names: BRR2 homolog; U5 snRNP-specific 200 kDa protein; activating signal cointegrator 1 complex subunit 3-like 1; bad response to refrigeration 2 homolog; small nuclear ribonucleoprotein 200kDa (U5); small nuclear ribonucleoprotein, U5 200kDa subunit

NP_054733.2

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016973.1 RefSeqGene

Range

5014..36222

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014014.5 → NP_054733.2 U5 small nuclear ribonucleoprotein 200 kDa helicase

See identical proteins and their annotated locations for NP_054733.2

Status: REVIEWED

Source sequence(s)

AB018331, AW190145, AY572488, DB067751

Consensus CDS

CCDS2020.1

UniProtKB/Swiss-Prot

O75643, O94884, Q6NZY0, Q6PX59, Q8NBE6, Q96IF2, Q9H7S0

UniProtKB/TrEMBL

A4FU77

Related

ENSP00000317123.5, ENST00000323853.10

Conserved Domains (5) summary

smart00611
Location:1809 → 2125

SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins

COG1204
Location:452 → 1241

BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

PRK00254
Location:1310 → 1897

PRK00254; ski2-like helicase; Provisional

cd18021
Location:1325 → 1515

DEXHc_Brr2_2; C-terminal D[D/E]X[H/Q]-box helicase domain of spliceosomal Brr2 RNA helicase

pfam18149
Location:254 → 363

Helicase_PWI; N-terminal helicase PWI domain