WASHC4 - WASH complex subunit 4 Gene

中文名称：WASH 复合亚基 4

种属: Homo sapiens

同用名: SWIP; MRT43; KIAA1033

基因 ID: 23325 | 基因类型: protein coding

关于 WASHC4

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:105,107,731-105,169,130 (from NCBI)

This gene has 14 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 16.8), appendix (RPKM 15.8) and 25 other tissues.

功能概要

该基因编码 WASH 复合物的一个成分，该复合物在核内体的细胞内运输中发挥作用。已在患有常染色体隐性认知障碍的个体中检测到该基因的突变。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 6 月]

This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

WASHC4 基因产物(2)

mRNA	Protein	Name
NM_001293640.2	NP_001280569.1	WASH complex subunit 4 isoform 1
NM_015275.3	NP_056090.1	WASH complex subunit 4 isoform 2

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 protein binding	IPI IPI: 通过物理相互作用推断	32353859	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within endosomal transport	IMP IMP: 通过突变表型推断	20923837	GOA
involved in endosome organization	IMP IMP: 通过突变表型推断	23676666	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of BLOC-1 complex	IDA IDA: 通过直接分析推断	23676666	GOA
part of WASH complex	IDA IDA: 通过直接分析推断	19922875	GOA
located in endosome	IDA IDA: 通过直接分析推断	20923837	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

WASHC4 蛋白结构

WASH-7_N

WASH-7_mid

WASH-7_C

0
200
400
600
800
1000
1173 a.a.

蛋白主名

其他名称

WASH complex subunit 4

WASH complex subunit 7

WASHC4 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
种属间	WASHC4	Q2M389	P0DTD1-PRO_0000449620	SARS-CoV-2	P0DTD1-PRO_0000449620	Y2H Array	36217030

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

Intellectual Developmental Disorder, Autosomal Recessive 43

MRT43	Mental Retardation, Autosomal Recessive 43
Autosomal Recessive Intellectual Developmental Disorder 43	Mental Retardation, Autosomal Recessive, Type 43

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Ritscher-Schinzel Syndrome

3c Syndrome	Ccc Dysplasia
Craniocerebellocardiac Dysplasia	Cranio-Cerebello-Cardiac Dysplasia

Osteogenesis Imperfecta, Type Vi

OI6	Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type Vi	Oi Type Vi
Oi Type 6	Osteogenesis Imperfecta Type
Serpinfi- Related Osteogenesis Imperfecta	Osteogenesis Imperfecta 6
Oi-Vi

Loeys-Dietz Syndrome 1

Furlong Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome
LDS1	Aat5
Loeys-Dietz Syndrome Type 1	Aortic Aneurysm, Familial Thoracic 5
Familial Throacic Aortic Aneurysm 5	Loeys-Dietz Syndrome
Aortic Aneurysm Syndrome, Loeys-Dietz Type	Familial Thoracic Aortic Aneurysm 5
Ldas	Marfanoid Disorder-Craniosynostosis Syndrome
Aneurysm, Aortic, Thoracic, Familial, Type 5	Loeys-Dietz Syndrome, Type 1
Loeys-Dietz Syndrome, Type 2a

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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-RS15745	WASHC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	WASHC4	VGNC	VGNC:67005
Canis familiaris	WASHC4	VGNC	VGNC:48336
Mus musculus	WASHC4	MGD	MGI:2441787
Rattus norvegicus	WASHC4	RGD	RGD:1309995
Macaca mulatta	WASHC4	VGNC	VGNC:79783
Bos taurus	WASHC4	VGNC	VGNC:36868

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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）

WASHC4 - WASH complex subunit 4 Gene

关于 WASHC4

功能概要

WASHC4 基因产物(2)

WASHC4 蛋白结构

WASHC4 蛋白互作信息

关联疾病

直系同源

热门区域

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WASHC4 - WASH complex subunit 4 Gene

关于 WASHC4

功能概要

WASHC4 基因产物(2)

WASHC4 蛋白结构

WASHC4 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z