WASHC4 - WASH complex subunit 4 Gene

Homo sapiens

Also known as SWIP; MRT43; KIAA1033

Gene ID: 23325 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32353859	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within endosomal transport	IMP IMP: Inferred from mutant phenotype	20923837	GOA
involved in endosome organization	IMP IMP: Inferred from mutant phenotype	23676666	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	23676666	GOA
part of WASH complex	IDA IDA: Inferred from direct assay	19922875	GOA
located in endosome	IDA IDA: Inferred from direct assay	20923837	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

WASHC4 Protein Structure

WASH-7_N

WASH-7_mid

WASH-7_C

0
200
400
600
800
1000
1173 a.a.

Protein Preferred Names

Protein Names

WASH complex subunit 4

WASH complex subunit 7

WASHC4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	WASHC4	Q2M389	P0DTD1-PRO_0000449620	SARS-CoV-2	P0DTD1-PRO_0000449620	Y2H Array	36217030

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15745	WASHC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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