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FLASH GENE
Symbol WDR1 contributors: mct - updated : 20-11-2018
HGNC name WD repeat domain 1
HGNC id 12754
Corresponding disease
PFIT autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Location 4p16.1      Physical location : 10.075.963 - 10.118.573
Synonym name
  • actin interacting protein 1
  • WD repeat-containing protein 1
  • epididymis secretory protein Li 52
  • Synonym symbol(s) NORI-1, AIP1, HEL-S-52
    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
    Physical map
    LOC391624 4 similar to ubiquitin-specific protease 17-like protein LOC391625 4 similar to ubiquitin-specific protease 17-like protein LOC391626 4 similar to ubiquitin-specific protease 17-like protein LOC391627 4 similar to ubiquitin-specific protease 17-like protein LOC391628 4 similar to ubiquitin-specific protease 17-like protein LOC389200 4 similar to hypothetical protein LOC169270 LOC285479 4p16.1 hypothetical gene supported by NM_030930; AY007125 LOC391629 4 similar to seven transmembrane helix receptor LOC391630 4 similar to seven transmembrane helix receptor LOC391631 4 similar to Alkaline sphingomyelinase LOC285544 4p16.1 similar to mannosyltransferase LOC391632 4 similar to putative taste receptor HTR2 LOC389201 4 LOC389201 DRD5 4p16.1 dopamine receptor D5 SLC2A9 4p16-p15.3 solute carrier family 2 (facilitated glucose transporter), member 9 WDR1 4p16.1 WD repeat domain 1 RAF1P1 4p16.1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 KIAA1729 4p16.1 KIAA1729 protein LOC391633 4 similar to 14.5 kDa translational inhibitor protein (p14.5) (UK114 antigen homolog) MIST  mast cell immunoreceptor signal transducer
    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