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FLASH GENE
Symbol ATP10A contributors: mct - updated : 30/10/2008
HGNC name ATPase, Class V, type 10A
HGNC id 13542
Corresponding disease
AS Angelman syndrome
Location 15q11.2-q12      Physical location : 25.923.861 - 26.108.349
Synonym name
  • aminophospholipid-transporting ATPASE gene
  • ATPase, Class V, type 10C
  • ATPase type IV, phospholipid transporting (p-type)
  • aminophospholipid translocase
  • Synonym symbol(s) ATP10C, ATPVC, KIAA0566, AT5C, PFATP
    EC.number 3.6.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 184.49 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • putative promoter region containing a strong CpG island
  • 5' untranslated regions having potential binding sites for multiple transcription factors, including Sp1, USF, AP1, and AP2, involved in adipogenesis and adipocyte metabolism
  • MAPPING cloned Y linked N status provisional
    Map cen - MKRN3 - NDN - MAGEL2 - SNURF /SNRPN /IPW - UBE3A - NDNL2 - ATP10A - D15S986 - GABRB3 - GABRA5 - GABRG3 - D15S156 - OCA2 OCA2 - APBA2 - qter
    Authors Laura (01)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 5235 - 1499 - Dhar (2002)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestinesmall intestine  lowly
     mouthtongue  predominantly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivefemale systemuterus  highly
     female systemovary  lowly
     female systembreastmammary gland moderately
     male systemtestis  lowly
     male systemprostate  lowly
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain, skin
    IMPRINTING paternally
    text imprinted in brain (monoallelic expressionis variable, and influenced by both gender and common genetic variation)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    three highly conserved motifs diagnostic of the type 4 subfamily of P-type ATPases
    HOMOLOGY
    interspecies ortholog to murine Atp10a
    ortholog to rattus Atp10a predicted
    Homologene
    FAMILY
  • cation transport ATPase family
  • class V of the third subfamily of P-type ATPases
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • integral to membrane
  • basic FUNCTION
  • aminophospholipid and calcium transporting gene
  • may contribute to the Angelman syndrome phenotype
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text
  • cation transport
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • Mg2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    included in PWS/AS typically deleted region, maternally expressed gene
    constitutional     --other  
    dysregulation contributes to some of the obesity-related complications in PWS and in individuals with 15q11-q13 duplication
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS