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FLASH GENE
Symbol WDR36 contributors: mct/npt/pgu - updated : 05-09-2011
HGNC name WD repeat domain 36
HGNC id 30696
Corresponding disease
GLC1G glaucoma, primary open angle 1G
Location 5q22.1      Physical location : 110.427.869 - 110.466.201
Synonym name T-cell activation WD repeat-containing protein
Synonym symbol(s) TA-WDRP, UTP21, TAWDRP, DKFZp686I1650
DNA
TYPE functioning gene
STRUCTURE 38.33 kb     23 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 6611 105 951 - 2011 21051332
EXPRESSION
Rna function mRNA have been detected in the heart, skeletal muscle, pancreas, liver and placenta
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeanterior segmentiris  
 eyelens   
 eyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 14 WD40 repeats which fold into two connected seven-bladed beta-propellers WD repeats
  • an AMP-dependent synthetase and ligase
  • several iterations of the WD40 repeat motif
  • an Utp21-specific WD40 associated putative domain
  • HOMOLOGY
    interspecies homolog to yeast Utp21
    Homologene
    FAMILY
  • WD repeat protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text
  • observed in the nucleolus of cells, which co-localized with that of nucleolar proteins such as nucleophosmin and PWP2
  • basic FUNCTION
  • involved in T-cell activation only
  • functioning in the nucleolar processing of 18S rRNA, which is required for ribosome biogenesis
  • may have novel functions in STIP1-related cellular processes such as molecular chaperoning and stress response
  • involved in rRNA processing, a critical step in ribosome biogenesis
  • essential protein in mammalian cells which is involved in the nucleolar processing of small subunit 18S rRNA
  • plays a role as glaucoma-modifier gene that is involved rather in disease susceptibility than in causation
  • important role for WDR36 in the processing of ribosomal RNA in the nucleolus
  • acts as a new scaffold protein tethering a G-protein-coupled receptor, GNAQ and PLCB2 in a signalling complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UTP6-WDR36 interaction (HAT domain binds a specific peptide ligand in WDR36) (PMID;
  • associated with PLCB2 and increased the interaction between GNAQ and PLCB2, but prevented sequestration of activated GNAQ by GRK2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GLC1G
    Susceptibility
  • to glaucoma
  • to esophagitis, eosinophilic (See EOE2)
  • Variant & Polymorphism other sequence variants can lead to an altered cellular phenotype and glaucoma, when combined with disruption of STIP1
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Wdr36 in the mouse caused preimplantation embryonic lethality, and homozygous Wdr36-deficient embryos degenerate before reaching blastocyst stage