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FLASH GENE
Symbol ATP8A2 contributors: mct/npt - updated : 17-12-2016
HGNC name ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
HGNC id 13533
Corresponding disease
CAMRQ4 cerebellar ataxia, mental retardation, with or without quadrupedal locomotion 4
Location 13q12.13      Physical location : 25.946.208 - 26.595.419
Synonym name
  • ML-1 protein
  • probable phospholipid-transporting ATPase IB
  • ATPase class I type 8A member
    • Synonym symbol(s) IB, ATP, ML-1, ATPIB, DKFZP434B1913, LOC51761
    EC.number 3.6.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 649.21 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 5006 129 1148 - 2009 19778899
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonamygdala   Homo sapiens
     spinal cord     Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Atp8a2 (95%)
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • type IV subfamily
  • P4-ATPase family
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • ATP8A2 associated with TMEM30A localizes to the Golgi compartment
    • basic FUNCTION
  • transports phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another
  • transports the lipids phosphatidylserine (PS) and phosphatidylethanolamine (PE), but not phosphatidylcholine (PC), from the luminal to the cytoplasmic surface of photoreceptor outer segment discs
  • implicated in the generation and maintenance of phosphatidylserine asymmetry in photoreceptor disc membranes
  • co-expression of ATP8A2 with TMEM30A results in the formation of properly folded heteromeric complex that is transported from the ER and to the Golgi compartment
  • "flippase" mediating transport of aminophospholipids toward the cytoplasmic leaflet
  • ATP8A2, acting in synergy with TMEM30A, performs an important role in neurite outgrowth in neurons
  • possesses phosphatidylserine translocase activity and is involved in localization of phosphatidylserine to the inner leaflet of the plasma membrane
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS active transport
    text small molecule transport, negative control of cell proliferation
    PATHWAY
    metabolism
    signaling
    a component
  • functional ATP8A2-TMEM30A complex (N-linked glycosylation of TMEM30A plays an important role in the formation of a stable ATP8A2-CDC50A protein complex)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TMEM30A interacting with ATP8A1 and ATP8A2 (are translocated from the ER to the Golgi complex and plasma membrane upon coexpression of TMEM30A
  • interaction with TMEM30A (is the beta-subunit of ATP8A2 and is crucial for the correct folding, stable expression, export from endoplasmic reticulum, and phosphatidylserine flippase activity of ATP8A2)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAMRQ4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    converts cells to tumorigenic phenotype
    constitutional   translocation    
    disruption in a balanced t(10;13) and a severe neurological phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Wabbler-lethal (wl) mutant mice develop progressive ataxia with pronounced neurodegeneration in the central and peripheral nervous system