Seroatlas · Human Serome Atlas

WDR81

WD repeat-containing protein 81

Also known as: CAMRQ2, FLJ33817, PPP1R166, SORF-2, WDR81_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q562E7
Gene: WDR81
Ensembl: ENSG00000167716
Chromosome: 17
Canonical length: 1941 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1941 residues, UniProt reviewed canonical sequence.

>Q562E7|WDR81
     1  MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG GTHVVALVPA
    61  RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA GWTRVEVHGL RKRRLSYPLG
   121  GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA
   181  LQRVYGCSFL PVGETTQCPS YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF
   241  SLHDVVTFSP AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
   301  LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL DWVHGRISNF
   361  HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR KSKFRLNKGD KQLDFTYEMT
   421  RQAFVAGGAG GGEPPHVPHH ISDVLSDITY YVYKARRTPR SVLCGHVRAQ WEPHEYPASM
   481  ERMQNWTPDE CIPEFYTDPS IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD
   541  LHHWIDLTFG YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
   601  EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD RPVAGEDDLE
   661  QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP GRRNKAAGAD PGEGEEGRIL
   721  LPEGFNPMQA LEELEKTGNF LAKGLGGLLE VPEQPRVQPA VPLQCLLHRD MQALGVLLAE
   781  MVFATRVRTL QPDAPLWVRF QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG
   841  KLDQLFEYRP VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
   901  LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA KALGPKNANK
   961  YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF LTHLLPHVLQ VLAGAEASQE
  1021  ESKDLAGAAE EEESGLPGAG PGSCAFGEEI PMDGEPPASS GLGLPDYTSG VSFHDQADLP
  1081  ETEDFQAGLY VTESPQPQEA EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG
  1141  DSSQDLKQSE GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
  1201  DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL RLLTSCYVGP
  1261  TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL HIARLYGEPV LTYQYLPYIS
  1321  YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ KIIVYLSDTT LMDILPRISH EVLLPVLSFL
  1381  TSLVTGFPSG AQARTILCVK TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ
  1441  QDLKLDPAGR GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
  1501  RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTMPGTGP EWDPHGGGCP QDDGHSGTFG
  1561  SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN ALKQELPRSV HGLSGNWLAY
  1621  WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY
  1681  GDGTSETAPR LVYTQHRKSV FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV
  1741  PLTAVAVMPA PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
  1801  VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS LTVWKELEQK
  1861  PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP SQATTKLSSE NFRGTLTSLA
  1921  LLPTKRHLLL GSDNGVIRLL A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR81 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

liver: 31 nTPM
spleen: 23 nTPM
ovary: 20 nTPM
endometrium: 18 nTPM
cervix: 18 nTPM
skin: 17 nTPM

Single-cell type

microglia: 31 nCPM
epididymal principal cells: 29 nCPM
proximal tubule cells: 25 nCPM
hepatocytes: 22 nCPM
kupffer cells: 21 nCPM
hofbauer cells: 17 nCPM

Immune cell

plasmacytoid DC: 3.3 nTPM
eosinophil: 2.8 nTPM
intermediate monocyte: 2.3 nTPM
non-classical monocyte: 2.3 nTPM
NK-cell: 2.1 nTPM
myeloid DC: 1.8 nTPM

Brain region

choroid plexus: 15 nTPM
white matter: 14 nTPM
thalamus: 14 nTPM
cerebral cortex: 13 nTPM
medulla oblongata: 13 nTPM
pons: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR81.

Disease | AllUniProt

Conditions WDR81 is implicated in, by any mechanism.

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 (CAMRQ2) MIM:610185
Hydrocephalus, congenital, 3, with brain anomalies (HYC3) MIM:617967

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 652 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Hydrocephalus, congenital, 3, with brain anomalies
WDR81-related disorder
Inborn genetic diseases
Neonatal death

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): 0.53
gnomAD pLI: 0
gnomAD missense Z: 2.11
DepMap mean gene effect: 0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

BEACH domain
WD40 repeat
Protein kinase-like domain superfamily
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
BEACH domain superfamily
WD domain, G-beta repeat
Beige/BEACH domain
WD repeat-containing protein 81

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WDR81 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 WDR81 as an antibody target. Whether an autoantibody or antibody against WDR81 could matter depends on whether native WDR81 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR81 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 WDR81 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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