Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9897
Gene name Gene Name - the full gene name approved by the HGNC.	WASH complex subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WASHC5
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA0196, RTSC, RTSC1, SPG8
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named fo

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72720524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338865	T>C	Pathogenic	Coding sequence variant, missense variant
rs80338866	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs80338867	C>A	Pathogenic	Coding sequence variant, missense variant
rs147434450	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515564	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs398123007	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs748167994	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs749056160	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs754463353	G>A	Pathogenic	Coding sequence variant, stop gained
rs765926045	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518000	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1362286755	G>A	Pathogenic	Stop gained, coding sequence variant
rs1462319941	G>A	Pathogenic	Stop gained, coding sequence variant
rs1554593899	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554593901	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1563627853	T>C	Likely-pathogenic	Splice acceptor variant
rs1563633906	->T	Pathogenic	Coding sequence variant, stop gained
rs1586362593	G>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT727382	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727380	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727381	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727379	hsa-miR-181d-5p	HITS-CLIP	22473208

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IEA
GO:0005515	Function	Protein binding	IPI	20923837, 23331060, 23676666, 24643499
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	20923837
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	23676666
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016197	Process	Endosomal transport	IMP	20923837
GO:0016197	Process	Endosomal transport	NAS	19922875
GO:0030041	Process	Actin filament polymerization	IBA
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0031901	Component	Early endosome membrane	NAS	19922874
GO:0034315	Process	Regulation of Arp2/3 complex-mediated actin nucleation	NAS	19922875
GO:0040038	Process	Polar body extrusion after meiotic divisions	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043933	Process	Protein-containing complex organization	IEA
GO:0051125	Process	Regulation of actin nucleation	IBA
GO:0051125	Process	Regulation of actin nucleation	IEA
GO:0071203	Component	WASH complex	IBA
GO:0071203	Component	WASH complex	IDA	19922875
GO:0071203	Component	WASH complex	IEA
GO:0071203	Component	WASH complex	NAS	19922875
GO:0090306	Process	Meiotic spindle assembly	IEA
GO:0097494	Process	Regulation of vesicle size	IEA
GO:0140285	Process	Endosome fission	IBA

MIM	HGNC	e!Ensembl
610657	28984	ENSG00000164961

Protein

UniProt ID

Q12768

Protein name

WASH complex subunit 5 (Strumpellin) (WASH complex subunit strumpellin)

Protein function

Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10266	Strumpellin	23 → 1103	Hereditary spastic paraplegia protein strumpellin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:20833645}.

Sequence

MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSY
FKGPELWESKLDAKPELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGV
YIQQTLETVLLNEDGKQLLCEALYLYGVMLLVIDQKIEGEVRERMLVSYYRYSAARSSAD
SNMDDICKLLRSTGYSSQPGAKRPSNYPESYFQRVPINESFISMVIGRLRSDDIYNQVSA
YPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIVDKYFPDNWVISIYMGITVNL
VDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYLREEMVLDNIP
KLLNCLRDCNVAIRWLMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQF
EFILKEMFKQMLSEKQTKWEHYKKEGSERMTELADVFSGVKPLTRVEKNENLQAWFREIS
KQILSLNYDDSTAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLADTRKFLHQMIRTINI
KEEVLITMQIVGDLSFAWQLIDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRI
NQANSPDLLSVSQYYSGELVSYVRKVLQIIPESMFTSLLKIIKLQTHDIIEVPTRLDKDK
LRDYAQLGPRYEVAKLTHAISIFTEGILMMKTTLVGIIKVDPKQLLEDGIRKELVKRVAF
ALHRGLIFNPRAKPSELMPKLKELGATMDGFHRSFEYIQDYVNIYGLKIWQEEVSRIINY
NVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLCREILRITDPKMTCHI
DQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIIL
RDRTVQDTLKTLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQ
IANELNYSCRFDSKHLAAALENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAA
GIHNPLNKIYITTKRLPYFPIVNFLFLIAQLPKLQYNKNLGMVCRKPTDPVDWPPLVLGL
LTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPADVVGALLFLEDYVRYTKLPR
RVAEAHVPNFIFDEFRTVL

Sequence length

1159

Interactions

View interactions

	KEGG
	Endocytosis

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary spastic paraplegia	Hereditary spastic paraplegia 8, Hereditary spastic paraplegia	rs1060502725, rs1554593901, rs1554593899, rs397515564, rs80338867, rs80338866, rs80338865	N/A
RITSCHER-SCHINZEL SYNDROME	ritscher-schinzel syndrome 1	rs1554593901, rs398123007	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Spastic paraplegia	Spastic paraplegia, autosomal dominant	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3C syndrome	Associate	24916641
Amyotrophic Lateral Sclerosis	Associate	30778698
Atrioventricular Block	Associate	29768361
Atrophy	Stimulate	16143870
Colorectal Neoplasms	Associate	19520795
Leg Length Inequality	Associate	20923837
Neoplasms	Associate	33902514
Spastic Paraplegia Hereditary	Associate	16143870, 20923837, 23085491, 30778698
Spastic Paraplegia Type 8	Associate	29768361
Spinal Cord Diseases	Stimulate	16143870
Spinocerebellar Ataxias	Associate	30778698
Stomach Neoplasms	Associate	33902514

WASHC5 (WASH complex subunit 5)