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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9897
Gene name	WASH complex subunit 5
Gene symbol	WASHC5
Synonyms (NCBI Gene)	KIAA0196RTSCRTSC1SPG8
Chromosome	8
Chromosome location	8q24.13
Summary	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

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

930

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs80338867	RCV001847561
Hereditary spastic paraplegia 8	Pathogenic; Likely pathogenic	rs1030054011, rs1815322920, rs377540152, rs953586472, rs80338867, rs80338866, rs80338865, rs758391206, rs2537306012, rs150749307, rs2537350339, rs2537313187, rs767855117, rs1060502725, rs1554593901 View all (7 more)	RCV001313795 RCV001331908 RCV002014065 RCV001952450 RCV000001220 RCV000001221 RCV000001222 RCV002800511 RCV002862872 RCV003786571 RCV003791712 RCV003799869 RCV003886323 RCV001391386 RCV000555090 RCV000585718 RCV002233667 RCV002233608 RCV000691473 RCV001391387 RCV000055943 RCV001391388 RCV001391384
Lower limb spasticity	Likely pathogenic	rs1816782806	RCV001541904
Lung cancer	Likely pathogenic	rs767855117	RCV005936764
Ritscher-Schinzel syndrome	Pathogenic; Likely pathogenic	rs1030054011, rs377540152, rs953586472, rs80338867, rs80338866, rs758391206, rs2537306012, rs150749307, rs2537350339, rs2537313187, rs1060502725, rs1554593901, rs1554593899, rs1462319941, rs765926045, rs397515564 View all (1 more)	RCV001313795 RCV002014065 RCV001952450 RCV002227984 RCV001851527 RCV002800511 RCV002862872 RCV003786571 RCV003791712 RCV003799869 RCV002230093 RCV000555090 RCV001069360 RCV002233667 RCV002233608 RCV002232914
Ritscher-Schinzel syndrome 1	Likely pathogenic; Pathogenic	rs749859427, rs2537289969, rs2537390996, rs1554593901, rs1563627853, rs1586390087, rs398123007	RCV003142328 RCV003777333 RCV004526423 RCV001542471 RCV000691473 RCV004556081 RCV000077794
WASHC5-related disorder	Likely pathogenic	rs398123007	RCV004751254

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1004350, rs79465975, rs2384917, rs16900368, rs2303525	RCV005915666 RCV005925028 RCV005891942 RCV005899296 RCV005902316
Cervical cancer	Benign	rs74754143, rs2303525	RCV005923297 RCV005902318
Cholangiocarcinoma	Benign	rs1004350, rs79465975	RCV005915671 RCV005925030
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs16900368	RCV005899307
Colorectal cancer	Benign	rs16900368	RCV005899302
Familial cancer of breast	Conflicting classifications of pathogenicity	rs200283018	RCV005907006
Familial pancreatic carcinoma	Benign	rs16900368	RCV005899301
Gastric cancer	Benign; Likely benign	rs1004350, rs760094704, rs2303525	RCV005915670 RCV005898069 RCV005902320
Hepatocellular carcinoma	Benign	rs1004350, rs12682006, rs2384917, rs16900368	RCV005915667 RCV005915672 RCV005891943 RCV005899297
Hereditary spastic paraplegia 47	Uncertain significance	rs772177975	RCV004595301
Incidental Discovery	Conflicting classifications of pathogenicity	rs762363112	RCV005251005
Lymphoma	Conflicting classifications of pathogenicity	rs200283018	RCV005907007
Malignant lymphoma, large B-cell, diffuse	Benign	rs12682006	RCV005915673
Malignant tumor of esophagus	Benign	rs1004350, rs79465975, rs2303525	RCV005915668 RCV005925029 RCV005902317
Melanoma	Benign	rs16900368	RCV005899306
Muscle weakness	Uncertain significance	rs1244780710	RCV001328498
Nonpapillary renal cell carcinoma	Benign	rs16900368	RCV005899298
Ovarian cancer	Benign	rs16900368	RCV005899299
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs16900368, rs200283018	RCV005899303 RCV005907008
Sarcoma	Benign	rs1004350, rs2303525	RCV005915669 RCV005902319
See cases	Uncertain significance	rs1815741317, rs1817065747	RCV001196556 RCV001196610
Spastic paraplegia	Benign; Likely benign; Uncertain significance	rs569426560, rs367744328	RCV000205252 RCV001391467
Spastic paraplegia, autosomal dominant	Likely benign; Uncertain significance	rs550928439, rs886062656, rs774994568, rs199912701	RCV000314921 RCV000348018 RCV000270330 RCV000311331
Spasticity	Uncertain significance	rs772529893	RCV001328496
Thymoma	Benign	rs2384917, rs16900368, rs2303525	RCV005891944 RCV005899305 RCV005902321
Uterine carcinosarcoma	Benign	rs12682006, rs74754143, rs16900368	RCV005915674 RCV005923298 RCV005899304
Uterine corpus endometrial carcinoma	Benign	rs74754143, rs79465975, rs2303525	RCV005923299 RCV005925031 RCV005902322
Uveal melanoma	Benign	rs16900368	RCV005899300

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)