WDR1

Protein identityUniProt · HPA

UniProt accession

O75083

Gene

WDR1

Ensembl

ENSG00000071127

Chromosome

4

Canonical length

606 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Plasma membrane,Cell Junctions,Cytosol

OverviewNCBI Gene

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

606 residues, UniProt reviewed canonical sequence.

>O75083|WDR1
     1  MPYEIKKVFA SLPQVERGVS KIIGGDPKGN NFLYTNGKCV ILRNIDNPAL ADIYTEHAHQ
    61  VVVAKYAPSG FYIASGDVSG KLRIWDTTQK EHLLKYEYQP FAGKIKDIAW TEDSKRIAVV
   121  GEGREKFGAV FLWDSGSSVG EITGHNKVIN SVDIKQSRPY RLATGSDDNC AAFFEGPPFK
   181  FKFTIGDHSR FVNCVRFSPD GNRFATASAD GQIYIYDGKT GEKVCALGGS KAHDGGIYAI
   241  SWSPDSTHLL SASGDKTSKI WDVSVNSVVS TFPMGSTVLD QQLGCLWQKD HLLSVSLSGY
   301  INYLDRNNPS KPLHVIKGHS KSIQCLTVHK NGGKSYIYSG SHDGHINYWD SETGENDSFA
   361  GKGHTNQVSR MTVDESGQLI SCSMDDTVRY TSLMLRDYSG QGVVKLDVQP KCVAVGPGGY
   421  AVVVCIGQIV LLKDQRKCFS IDNPGYEPEV VAVHPGGDTV AIGGVDGNVR LYSILGTTLK
   481  DEGKLLEAKG PVTDVAYSHD GAFLAVCDAS KVVTVFSVAD GYSENNVFYG HHAKIVCLAW
   541  SPDNEHFASG GMDMMVYVWT LSDPETRVKI QDAHRLHHVS SLAWLDEHTL VTTSHDASVK
   601  EWTITY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR1 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.2

Highest tissue expression

199 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR1.

Disease | AllUniProt

Conditions WDR1 is implicated in, by any mechanism.

• Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) MIM:150550

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 587 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Lazy leukocyte syndrome
• Intellectual developmental disorder 61

ReferencesPubMed · IEDB

Publications for WDR1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.22

gnomAD pLI

1

gnomAD missense Z

1.93

DepMap mean gene effect

-0.89

DepMap dependency class

common

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

• actin filament depolymerization
• actin filament fragmentation
• apical junction assembly
• cortical cytoskeleton organization
• locomotion
• maintenance of epithelial cell apical/basal polarity
• neutrophil mediated immunity
• neutrophil migration
• platelet formation
• positive regulation of actin filament depolymerization
• regulation of actin filament depolymerization
• regulation of cell shape
• regulation of oligodendrocyte differentiation
• regulation of ventricular cardiac muscle cell membrane repolarization
• sarcomere organization
• sensory perception of sound
• establishment of planar polarity of follicular epithelium

Molecular functions

• actin filament binding

Cellular components

• cell junction
• cell-cell junction
• cortical actin cytoskeleton
• cytosol
• extracellular exosome
• extracellular region
• glutamatergic synapse
• plasma membrane
• podosome

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• WD40/YVTN repeat-like-containing domain superfamily
• WD40 repeat, conserved site
• PAC1/LIS1-like, WD-40 repeat
• WD40-repeat-containing domain superfamily
• WD domain, G-beta repeat
• Nitrous oxide reductase, N-terminal

KeywordsUniProt

• Acetylation
• Actin-binding
• Cell junction
• Cell projection
• Cytoplasm
• Cytoskeleton
• Phosphoprotein
• Repeat
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of WDR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ACTB
• ACTG1