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FLASH GENE
Symbol KIAA0753 contributors: mct - updated : 13-04-2016
HGNC name KIAA0753
HGNC id 29110
Corresponding disease
OFD7 Oral-facial-digital syndrome 7
Location 17p13.2      Physical location : 6.481.645 - 6.544.247
Genatlas name moonraker
Synonym name hypothetical protein LOC9851
Synonym symbol(s) MGC130040, MGC130041, MNR, OFIP
DNA
TYPE functioning gene
STRUCTURE 63.59 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 4701 109.4 967 - 2011 21399614
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus (residues 1299) was sufficient for localization to PSs (pericentriolar satellites) and centrosomes
  • large extent of disordered non-globular structures
  • C-terminus of the protein is one of the few regions that are predicted to be globular
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • KIAA0753 positively regulates centriole duplication and CEP63 centrosome localization
  • having microtubule-stabilizing activity
  • conserved centrosome and PS protein
  • protects from depolymerization and stabilizes Microtubules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a ternary complex with FOPNL and OFD1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WDR62 interacting with MOONRAKER (KIAA0753)
  • interacts with FOPNL
  • directly interacts with OFD1 in the absence of FOPNL, but the interaction between KIAA0753 and OFD1 is much stronger when FOPNL is present in the complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OFD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS