SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

中文名称：小核核糖核蛋白 U5 亚基 200

种属: Homo sapiens

同用名: BRR2; RP33; HELIC2; ASCC3L1; U5-200KD

基因 ID: 23020 | 基因类型: protein coding

关于 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.

功能概要

前体 mRNA 剪接由剪接体催化，剪接体是一种特殊的 RNA 和蛋白质亚基复合体，可从转录的前体 mRNA 片段中去除内含子。剪接体由小核 RNA 蛋白 (snRNP) U1、U2、U4、U5 和 U6 以及大约 80 种保守蛋白组成。 U5 snRNP 包含九种特定的蛋白质。该基因编码一种 U5 snRNP 特异性蛋白质。这种蛋白质属于推定的 RNA 解旋酶的 DEXH-box 家族。它是 U4/U6-U5 snRNPs 的核心成分，并且似乎催化 U4/U6 RNA 双链的 ATP 依赖性解旋。该基因的突变会导致常染色体显性遗传性视网膜色素变性。已发现编码不同亚型的选择性剪接转录变体，但尚未确定这些变体的全长性质。[RefSeq 提供，2010 年 3 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables RNA helicase activity	IDA IDA: 通过直接分析推断	23045696	GOA
enables helicase activity	IDA IDA: 通过直接分析推断	9539711	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22365833	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9774689	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	8670905	GOA
involved in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA IDA: 通过直接分析推断	35241646	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of U2-type catalytic step 1 spliceosome	IDA IDA: 通过直接分析推断	29301961	GOA
part of U2-type precatalytic spliceosome	IDA IDA: 通过直接分析推断	29361316	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: 通过直接分析推断	23793891	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: 通过物理相互作用推断	30975767	GOA
part of U5 snRNP	IDA IDA: 通过直接分析推断	9539711	GOA
part of catalytic step 2 spliceosome	IDA IDA: 通过直接分析推断	11991638	GOA
located in nucleus	IDA IDA: 通过直接分析推断	22720776	GOA
part of spliceosomal complex	IDA IDA: 通过直接分析推断	8670905	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SNRNP200 蛋白结构

DEAD

Helicase_C

Sec63

DEAD

Helicase_C

Sec63

0
400
800
1200
1600
2000
2136 a.a.

蛋白主名

其他名称

U5 small nuclear ribonucleoprotein 200 kDa helicase

BRR2 homolog

SNRNP200 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13496	SNRNP200 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

关于 SNRNP200

功能概要

SNRNP200 基因产物(1)

SNRNP200 蛋白结构

SNRNP200 蛋白互作信息

关联疾病

直系同源

热门区域

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SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

关于 SNRNP200

功能概要

SNRNP200 基因产物(1)

SNRNP200 蛋白结构

SNRNP200 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z