Seroatlas · Human Serome Atlas

WDR44

WD repeat-containing protein 44

Also known as: DKFZp686L20145, RAB11BP, RPH11, SYM-4, WDR44_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5JSH3
Gene: WDR44
Ensembl: ENSG00000131725
Chromosome: X
Canonical length: 913 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus

OverviewNCBI Gene

This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

913 residues, UniProt reviewed canonical sequence.

>Q5JSH3|WDR44
     1  MASESDTEEF YDAPEDVHLG GGYPVGSPGK VGLSTFKETE NTAYKVGNES PVQELKQDVS
    61  KKIIESIIEE SQKVLQLEDD SLDSKGKELS DQATASPIVA RTDLSNIPGL LAIDQVLPEE
   121  SQKAESQNTF EETELELKKC FPSDETCEKP VDETTKLTQT SSTEQLNVLE TETEVLNKEA
   181  VEVKGGGDVL EPVSSDSLST KDFAAVEEVA PAKPPRHLTP EPDIVASTKK PVPARPPPPT
   241  NFPPPRPPPP SRPAPPPRKR KSELEFETLK TPDIDVPKEN ITSDSLLTAS MASESTVKDS
   301  QPSLDLASAT SGDKIVTAQE NGKAPDGQTV AGEVMGPQRP RSNSGRELTD EEILASVMIK
   361  NLDTGEEIPL SLAEEKLPTG INPLTLHIMR RTKEYVSNDA AQSDDEEKLQ SQPTDTDGGR
   421  LKQKTTQLKK FLGKSVKRAK HLAEEYGERA INKVKSVRDE VFHTDQDDPS SSDDEGMPYT
   481  RPVKFKAAHG FKGPYDFDQI KVVQDLSGEH MGAVWTMKFS HCGRLLASAG QDNVVRIWAL
   541  KNAFDYFNNM RMKYNTEGRV SPSPSQESLS SSKSDTDTGV CSGTDEDPDD KNAPFRQRPF
   601  CKYKGHTADL LDLSWSKNYF LLSSSMDKTV RLWHISRREC LCCFQHIDFV TAIAFHPRDD
   661  RYFLSGSLDG KLRLWNIPDK KVALWNEVDG QTKLITAANF CQNGKYAVIG TYDGRCIFYD
   721  TEHLKYHTQI HVRSTRGRNK VGRKITGIEP LPGENKILVT SNDSRIRLYD LRDLSLSMKY
   781  KGYVNSSSQI KASFSHDFTY LVSGSEDKYV YIWSTYHDLS KFTSVRRDRN DFWEGIKAHN
   841  AVVTSAIFAP NPSLMLSLDV QSEKSEGNEK SEDAEVLDAT PSGIMKTDNT EVLLSADFTG
   901  AIKVFVNKRK NVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR44 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): 0.47
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

liver: 12 nTPM
gallbladder: 11 nTPM
esophagus: 11 nTPM
blood vessel: 9.9 nTPM
seminal vesicle: 9.9 nTPM
thymus: 9.9 nTPM

Single-cell type

platelets: 117 nCPM
neutrophil progenitors: 114 nCPM
oligodendrocytes: 109 nCPM
retinal ganglion cells: 89 nCPM
esophageal apical cells: 86 nCPM
thyrotrophs: 86 nCPM

Immune cell

basophil: 8 nTPM
eosinophil: 7.3 nTPM
NK-cell: 7.2 nTPM
T-reg: 7.1 nTPM
naive CD8 T-cell: 5.6 nTPM
MAIT T-cell: 5.5 nTPM

Brain region

white matter: 26 nTPM
basal ganglia: 24 nTPM
cerebral cortex: 22 nTPM
cerebellum: 22 nTPM
hippocampal formation: 20 nTPM
thalamus: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR44.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 302 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ciliopathy
WDR44-related ciliopathy

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 2.95
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
PAC1/LIS1-like, WD-40 repeat
WD40-repeat-containing domain superfamily
WD domain, G-beta repeat
WD repeat-containing protein WDR44/Dgr2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WDR44 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 WDR44 as an antibody target. Whether an autoantibody or antibody against WDR44 could matter depends on whether native WDR44 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR44 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 WDR44 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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