Seroatlas · Human Serome Atlas

WAC

WW domain-containing adapter protein with coiled-coil

Also known as: BM-016, FLJ31290, MGC10753, PRO1741, WAC_HUMAN, Wwp4

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

Protein identityUniProt · HPA

UniProt accession: Q9BTA9
Gene: WAC
Ensembl: ENSG00000095787
Chromosome: 10
Canonical length: 647 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

647 residues, UniProt reviewed canonical sequence.

>Q9BTA9|WAC
     1  MVMYARKQQR LSDGCHDRRG DSQPYQALKY SSKSHPSSGD HRHEKMRDAG DPSPPNKMLR
    61  RSDSPENKYS DSTGHSKAKN VHTHRVRERD GGTSYSPQEN SHNHSALHSS NSHSSNPSNN
   121  PSKTSDAPYD SADDWSEHIS SSGKKYYYNC RTEVSQWEKP KEWLEREQRQ KEANKMAVNS
   181  FPKDRDYRRE VMQATATSGF ASGMEDKHSS DASSLLPQNI LSQTSRHNDR DYRLPRAETH
   241  SSSTPVQHPI KPVVHPTATP STVPSSPFTL QSDHQPKKSF DANGASTLSK LPTPTSSVPA
   301  QKTERKESTS GDKPVSHSCT TPSTSSASGL NPTSAPPTSA SAVPVSPVPQ SPIPPLLQDP
   361  NLLRQLLPAL QATLQLNNSN VDISKINEVL TAAVTQASLQ SIIHKFLTAG PSAFNITSLI
   421  SQAAQLSTQA QPSNQSPMSL TSDASSPRSY VSPRISTPQT NTVPIKPLIS TPPVSSQPKV
   481  STPVVKQGPV SQSATQQPVT ADKQQGHEPV SPRSLQRSSS QRSPSPGPNH TSNSSNASNA
   541  TVVPQNSSAR STCSLTPALA AHFSENLIKH VQGWPADHAE KQASRLREEA HNMGTIHMSE
   601  ICTELKNLRS LVRVCEIQAT LREQRILFLR QQIKELEKLK NQNSFMV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WAC 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): 0.62
Highest tissue expression: 52 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 52 nTPM
thymus: 43 nTPM
cerebellum: 40 nTPM
spleen: 38 nTPM
pancreas: 37 nTPM
thyroid gland: 35 nTPM

Single-cell type

neutrophils: 1,115 nCPM
neutrophil progenitors: 779 nCPM
suprabasal keratinocytes: 450 nCPM
endometrial luminal cells: 422 nCPM
monocytes: 371 nCPM
microglia: 363 nCPM

Immune cell

basophil: 18 nTPM
NK-cell: 16 nTPM
intermediate monocyte: 16 nTPM
non-classical monocyte: 15 nTPM
neutrophil: 14 nTPM
memory B-cell: 14 nTPM

Brain region

cerebellum: 149 nTPM
white matter: 98 nTPM
basal ganglia: 96 nTPM
cerebral cortex: 94 nTPM
thalamus: 94 nTPM
midbrain: 91 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WAC.

Disease | AllUniProt

Conditions WAC is implicated in, by any mechanism.

DeSanto-Shinawi syndrome (DESSH) MIM:616708

Disease | GeneticClinVar

117 pathogenic / likely-pathogenic of 437 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

DeSanto-Shinawi syndrome due to WAC point mutation
Inborn genetic diseases
See cases
DeSanto-Shinawi syndrome
Neurodevelopmental disorder

Disease | ImmuneIEDB

Conditions an epitope on WAC was assayed in.

human immunodeficiency virus infectious disease T cell

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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 1.51
DepMap mean gene effect: -0.47
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

WW domain
WW domain superfamily
WW domain
WW domain-containing adapter protein with coiled-coil

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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