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WASHC4 - WASH complex subunit 4 Gene

Also Known as SWIP; MRT43; KIAA1033

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23325

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32353859	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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