Seroatlas · Human Serome Atlas

WASHC5

WASH complex subunit 5

Also known as: KIAA0196, SPG8, WASC5_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q12768
Gene: WASHC5
Ensembl: ENSG00000164961
Chromosome: 8
Canonical length: 1159 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Cytokinetic bridge,Mitotic spindle,Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI 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 for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]

Canonical amino-acid sequenceUniProt

1159 residues, UniProt reviewed canonical sequence.

>Q12768|WASHC5
     1  MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK YGDIIFDFSY
    61  FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ SVHKYIVDLN RYLDDLNEGV
   121  YIQQTLETVL LNEDGKQLLC EALYLYGVML LVIDQKIEGE VRERMLVSYY RYSAARSSAD
   181  SNMDDICKLL RSTGYSSQPG AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA
   241  YPLPEHRSTA LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL
   301  VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL REEMVLDNIP
   361  KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL TDSRYNPRIL FQLLLDTAQF
   421  EFILKEMFKQ MLSEKQTKWE HYKKEGSERM TELADVFSGV KPLTRVEKNE NLQAWFREIS
   481  KQILSLNYDD STAAGRKTVQ LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI
   541  KEEVLITMQI VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI
   601  NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII EVPTRLDKDK
   661  LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV DPKQLLEDGI RKELVKRVAF
   721  ALHRGLIFNP RAKPSELMPK LKELGATMDG FHRSFEYIQD YVNIYGLKIW QEEVSRIINY
   781  NVEQECNNFL RTKIQDWQSM YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI
   841  DQLNTWYDMK THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL
   901  RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK VGQMQILRQQ
   961  IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL PYPKEDNTLL YEITAYLEAA
  1021  GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL
  1081  LTLLKQFHSR YTEQFLALIG QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR
  1141  RVAEAHVPNF IFDEFRTVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WASHC5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 23 nTPM
thyroid gland: 22 nTPM
kidney: 21 nTPM
thymus: 20 nTPM
bone marrow: 20 nTPM
placenta: 20 nTPM

Single-cell type

oligodendrocytes: 140 nCPM
neutrophils: 129 nCPM
neutrophil progenitors: 89 nCPM
monocyte progenitors: 78 nCPM
thyrotrophs: 67 nCPM
microglia: 64 nCPM

Immune cell

non-classical monocyte: 30 nTPM
intermediate monocyte: 21 nTPM
myeloid DC: 20 nTPM
NK-cell: 17 nTPM
classical monocyte: 17 nTPM
T-reg: 17 nTPM

Brain region

white matter: 55 nTPM
choroid plexus: 40 nTPM
basal ganglia: 40 nTPM
cerebellum: 36 nTPM
medulla oblongata: 36 nTPM
spinal cord: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WASHC5.

Disease | AllUniProt

Conditions WASHC5 is implicated in, by any mechanism.

Spastic paraplegia 8, autosomal dominant (SPG8) MIM:603563
Ritscher-Schinzel syndrome 1 (RTSC1) MIM:220210

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 793 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1
Inborn genetic diseases
WASHC5-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.75
gnomAD pLI: 0
DepMap mean gene effect: -0.22
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 19% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

WASH complex, subunit strumpellin
Hereditary spastic paraplegia protein strumpellin

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WASHC5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WASHC5 as an antibody target. Whether an autoantibody or antibody against WASHC5 could matter depends on whether native WASHC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WASHC5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label WASHC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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