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FLASH GENE
Symbol WDR81 contributors: mct - updated : 16-12-2015
HGNC name WD repeat domain 81
HGNC id 26600
Corresponding disease
CHQL2 cerebellar hypoplasia and quadrupedal locomotion 2
Location 17p13.3      Physical location : 1.619.816 - 1.641.893
Synonym symbol(s) PPP1R166
DNA
TYPE functioning gene
STRUCTURE 22.08 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3821 96 890 - 2013 23595742
10 - 3184 80 738 - 2013 23595742
10 - 3320 77 714 - 2013 23595742
10 - 6869 211 1941 - 2013 23595742
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiens
Visualeyeretina    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal BEACH (Beige and Chediak-Higashi)domain
  • a major facilitator superfamily (MFS) domain
  • six WD repeats at the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text localized in mitochondria of Purkinje cell neurons
    basic FUNCTION
  • plays an essential role in Purkinje cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHQL2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS