SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

Also Known as BRR2; RP33; HELIC2; ASCC3L1; U5-200KD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23020

About SNRNP200

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,274,338-96,305,546 (from NCBI)

This gene has 9 transcripts (splice variants), 215 orthologues, 8 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 33.5), ovary (RPKM 29.9) and 25 other tissues.

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]

SNRNP200 Products (1)

mRNA	Protein	Name
NM_014014.5	NP_054733.2	U5 small nuclear ribonucleoprotein 200 kDa helicase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA helicase activity	IDA IDA: Inferred from direct assay	23045696	GOA
enables helicase activity	IDA IDA: Inferred from direct assay	9539711	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9774689	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	8670905	GOA
involved in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA IDA: Inferred from direct assay	35241646	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type catalytic step 1 spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29361316	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	23793891	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of U5 snRNP	IDA IDA: Inferred from direct assay	9539711	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22720776	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	8670905	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNRNP200 Protein Structure

DEAD

Helicase_C

Sec63

DEAD

Helicase_C

Sec63

0
400
800
1200
1600
2000
2136 a.a.

Protein Preferred Names	Protein Names
U5 small nuclear ribonucleoprotein 200 kDa helicase	BRR2 homolog

SNRNP200 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SNRNP200	O75643	PRPF8	Homo sapiens	Q6P2Q9	Y2H	16723661
Intra	SNRNP200	O75643	EFTUD2	Homo sapiens	Q15029	Y2H	16723661
Intra	SNRNP200	O75643	SNRNP40	Homo sapiens	Q96DI7	Anti Bait CoIP	9774689
Intra	SNRNP200	O75643	CHMP1B	Homo sapiens	Q7LBR1	Y2H	16730941
Intra	SNRNP200	O75643	RNF113A	Homo sapiens	O15541	Y2H	22365833
Intra	SNRNP200	O75643	RNF113A	Homo sapiens	O15541	Anti Tag CoIP	22365833
Intra	SNRNP200	O75643	PRPF6	Homo sapiens	O94906	Y2H	16723661
Intra	SNRNP200	O75643	SART1	Homo sapiens	O43290	Y2H	16723661
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	Enzymatic Study	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	NMR	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	GMS	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	Filter Binding	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	Crosslink	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	ITC	28838205
Intra	SNRNP200	O75643	WBP4	Homo sapiens	O75554	Y2H Array	28838205
Intra	SNRNP200	O75643	GNMT	Homo sapiens	Q14749	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis
Retinitis Pigmentosa 57	RP57 Pde6g-Related Retinitis Pigmentosa Retinitis Pigmentosa, Type 57
Retinitis Pigmentosa 13	RP13 Retinitis Pigmentosa-13 Retinitis Pigmentosa, Type 13
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Cold-Induced Sweating Syndrome 3
Trichohepatoenteric Syndrome 1	Trichohepatoenteric Syndrome Syndromic Diarrhea Tricho-Hepato-Enteric Syndrome Sd/The Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome THES1 Phenotypic Diarrhea Thes Phenotypic Diarrhea Of Infancy Diarrhea, Syndromic Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa Intractable Diarrhea With Phenotypic Anomalies Syndromatic Diarrhea Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Taybi-Linder Syndrome Brachymelic Primordial Dwarfism Cephaloskeletal Dysplasia Low-Birth-Weight Dwarfism With Skeletal Dysplasia Microcephalic Osteodysplastic Primordial Dwarfism Type I Osteodysplastic Primordial Dwarfism Type I Primordial Microcephalic Dwarfism, Crachami Type Osteodysplastic Primordial Dwarfism, Type 1 MOPD1 Mopd I Mopd Osteodysplastic Primordial Dwarfism, Type I Tals Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Mopd 1 Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3 Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Mopd Types I And Iii Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type Primordial Microcephalic Dwarfism Crachami Type Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1
Eye Degenerative Disease
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13496	SNRNP200 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SNRNP200	VGNC	VGNC:35068
Rattus norvegicus	SNRNP200	RGD	RGD:1561120
Macaca mulatta	SNRNP200	VGNC	VGNC:77802
Mus musculus	SNRNP200	MGD	MGI:2444401
Felis catus	SNRNP200	VGNC	VGNC:65532
Others	SNRNP200	NCBI