Seroatlas · Human Serome Atlas

WASHC4

WASH complex subunit 4

Also known as: KIAA1033, SWIP, WASC4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2M389
Gene: WASHC4
Ensembl: ENSG00000136051
Chromosome: 12
Canonical length: 1173 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1173 residues, UniProt reviewed canonical sequence.

>Q2M389|WASHC4
     1  MAVETLSPDW EFDRVDDGSQ KIHAEVQLKN YGKFLEEYTS QLRRIEDALD DSIGDVWDFN
    61  LDPIALKLLP YEQSSLLELI KTENKVLNKV ITVYAALCCE IKKLKYEAET KFYNGLLFYG
   121  EGATDASMVE GDCQIQMGRF ISFLQELSCF VTRCYEVVMN VVHQLAALYI SNKIAPKIIE
   181  TTGVHFQTMY EHLGELLTVL LTLDEIIDNH ITLKDHWTMY KRLLKSVHHN PSKFGIQEEK
   241  LKPFEKFLLK LEGQLLDGMI FQACIEQQFD SLNGGVSVSK NSTFAEEFAH SIRSIFANVE
   301  AKLGEPSEID QRDKYVGICG LFVLHFQIFR TIDKKFYKSL LDICKKVPAI TLTANIIWFP
   361  DNFLIQKIPA AAKLLDRKSL QAIKIHRDTF LQQKAQSLTK DVQSYYVFVS SWMMKMESIL
   421  SKEQRMDKFA EDLTNRCNVF IQGFLYAYSI STIIKTTMNL YMSMQKPMTK TSVKALCRLV
   481  ELLKAIEHMF YRRSMVVADS VSHITQHLQH QALHSISVAK KRVISDKKYS EQRLDVLSAL
   541  VLAENTLNGP STKQRRLIVS LALSVGTQMK TFKDEELFPL QVVMKKLDLI SELRERVQTQ
   601  CDCCFLYWHR AVFPIYLDDV YENAVDAARL HYMFSALRDC VPAMMHARHL ESYEILLDCY
   661  DKEIMEILNE HLLDKLCKEI EKDLRLSVHT HLKLDDRNPF KVGMKDLALF FSLNPIRFFN
   721  RFIDIRAYVT HYLDKTFYNL TTVALHDWAT YSEMRNLATQ RYGLVMTEAH LPSQTLEQGL
   781  DVLEIMRNIH IFVSRYLYNL NNQIFIERTS NNKHLNTINI RHIANSIRTH GTGIMNTTVN
   841  FTYQFLKKKF YIFSQFMYDE HIKSRLIKDI RFFREIKDQN DHKYPFDRAE KFNRGIRKLG
   901  VTPEGQSYLD QFRQLISQIG NAMGYVRMIR SGGLHCSSNA IRFVPDLEDI VNFEELVKEE
   961  GLAEETLKAA RHLDSVLSDH TRNSAEGTEY FKMLVDVFAP EFRRPKNIHL RNFYIIVPPL
  1021  TLNFVEHSIS CKEKLNKKNK IGAAFTDDGF AMGVAYILKL LDQYREFDSL HWFQSVREKY
  1081  LKEIRAVAKQ QNVQSASQDE KLLQTMNLTQ KRLDVYLQEF ELLYFSLSSA RIFFRADKTA
  1141  AEENQEKKEK EEETKTSNGD LSDSTVSADP VVK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WASHC4 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): 0.28
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

lymph node: 41 nTPM
tonsil: 37 nTPM
spleen: 31 nTPM
skin: 29 nTPM
appendix: 29 nTPM
placenta: 29 nTPM

Single-cell type

neutrophils: 447 nCPM
neutrophil progenitors: 374 nCPM
microglia: 300 nCPM
b-cells: 210 nCPM
monocytes: 186 nCPM
macrophages: 176 nCPM

Immune cell

non-classical monocyte: 35 nTPM
basophil: 21 nTPM
intermediate monocyte: 19 nTPM
neutrophil: 17 nTPM
memory B-cell: 16 nTPM
classical monocyte: 15 nTPM

Brain region

white matter: 53 nTPM
medulla oblongata: 47 nTPM
spinal cord: 40 nTPM
thalamus: 40 nTPM
pons: 39 nTPM
hypothalamus: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WASHC4.

Disease | AllUniProt

Conditions WASHC4 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 43 (MRT43) MIM:615817

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 259 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 43

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): 0.45
gnomAD pLI: 0
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

cognition
endosomal transport
endosome organization
neuromuscular process
protein transport
regulation of Arp2/3 complex-mediated actin nucleation
regulation of protein complex stability
endolysosomal toll-like receptor signaling pathway
nuclear envelope budding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WASH complex subunit 7
WASH complex subunit 4, N-terminal
WASH complex subunit 7, central domain
WASH complex subunit 7, C-terminal
WASH complex subunit 7
WASH complex subunit 4, N-terminal
WASH complex subunit 7, C-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WASHC4 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 WASHC4 as an antibody target. Whether an autoantibody or antibody against WASHC4 could matter depends on whether native WASHC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WASHC4 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 WASHC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...