Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol WDR1 contributors: mct - updated : 20-11-2018
HGNC name WD repeat domain 1
HGNC id 12754
DNA
TYPE functioning gene
STRUCTURE 42.61 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D4S412 - HD - D4S2925 - D4S3007 - D4S394 - D4S2923 - WDR1 - D4S1599 - D4S403 - D4S1601 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 splicing 3160 66.2 606 - 1999 10036186
12 splicing 2740 - 466 - 1999 10036186
lacking the last two WD domains
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Endocrinethyroid   highly
Lymphoid/Immunespleen   highly
 thymus   highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 14 WD40 repeats, which are organized into two propellers with seven blades each (the N-terminal propeller and the C-terminal propeller, structural motifs that mediate protein/protein interactions)
  • HOMOLOGY
    interspecies ortholog to murine Wdr1
    homolog to Drosophila CG10724
    homolog to C.elegans K08F9.2
    Homologene
    FAMILY
  • WD repeat gene family
  • AIP1 family of WD-repeat proteins
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • inducing disassembly of actin filaments in conjunction with ADF/cofilin family proteins
  • plays an important role in directional cell migration by restricting the stimulus-induced membrane protrusion to one direction via promoting cofilin activity
  • WDR1 enhances CFL1-mediated actin disassembly in the apical region of precluster cells to promote remodeling of adherens junctions (AJs) and thus intercellular movement, but also robust actin polymerization promotes AJ general adhesion and integrity during the remodeling process
  • could be an actin dynamics promoter that specifically regulates AJ function during epithelial morphogenesis
  • role of WDR1 in regulating the structure and remodeling of intestinal epithelial junctions and early steps of epithelial morphogenesis
  • regulates CFL1-mediated actin depolymerization, which is required for normal neutrophil function
  • plays likely an important role in suppressing platelet activity, where it alters the actin cytoskeleton dynamics
  • highly conserved actin-binding protein across all eukaryotes and is involved in numerous actin-based processes by accelerating Cofilin severing actin filament
  • importance of WDR1 and actin regulation in the activation of the inflammasome, and in human autoinflammation
  • WDR1-regulated actin dynamics is required for outflow tract and right ventricle development
  • role for WDR1 in adaptive immunity, highlighting WDR1 as a central regulator of actin turnover during formation of the B-cell and T-cell immunologic synapses
  • WDR1 is essential for the localization of CFL1 to the platelet membrane skeleton
  • CFL1 and WDR1 are evolutionally conserved proteins that cooperatively sever actin filaments
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to actin
  • interaction between the C-terminal WD40 propeller of WDR1 and the CARD domain of SFRS2IP
  • WDR1 is a major co-factor that collaborates with CFL1 to disassemble F-actin
  • WDR1 is essential for talin-induced activation of ITGA2B during platelet activation
  • WDR1 interacts with Lim domain kinase 1 (LIMK1), a well known phosphorylation kinase of CFL1
  • WDR1 is an EYA3-specific substrate, which implies that EYA3 is a key modulator of the cytoskeletal reorganization
  • WDR1, an actin interacting protein, enhances CFL1 capacity to accelerate depolymerization of F-actin filaments
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PFIT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    in respiratory tract infections, skin ulceration, and stomatitis, associated with aberrant T-cell activation and B-cell development
    constitutional     --low  
    may contribute to the platelet-mediated pathogenesis of cardiovascular disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • anti-WDR1 antibody could be a novel approach for serological screening of papillary thyroid carcinoma (PTC) and undifferentiated thyroid carcinoma (UTC), and could be an efficient and inexpensive biomarker
  • Therapy target
    ANIMAL & CELL MODELS
  • Wdr1-deficient mice have impaired hemostasis due to defective inside-out integrin signaling in platelets
  • in adult mice, Wdr1 deletion resulted in similar but much milder phenotypes of heart hypertrophy, F-actin accumulations within myofibrils, and lethality