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FLASH GENE
Symbol ATP13A4 contributors: - updated : 15-12-2005
HGNC name ATPase type 13A4
HGNC id 25422
Location 3q29      Physical location : 193.119.866 - 193.272.696
Synonym symbol(s) MGC126545, DKFZp761I1011
DNA
TYPE functioning gene
STRUCTURE 114.00 kb     19 Exon(s)
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
 placenta    
Nervousbrain   lowly
Respiratorylung   lowly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text significantly higher in fetal brain than in adult brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ten transmembrane segments
  • a cation ATPase domain
  • an E1-E2 ATPase domain
  • a nucleotide-binding domain
  • a hydrolase domain
  • a phosphatase site
    • HOMOLOGY
    interspecies homolog to murine Atp13a4
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION ATPase activity
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text cation transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
      germinal mutation inversion --low  
    a paracentric inversion involving chromosome 3q25-q29 in a 7-year-old girl with language delay, the distal breakpoint disrupted the ATP13A4 gene and inactivating 1 copy of the gene
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS