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FLASH GENE
Symbol ATP8A1 contributors: mct - updated : 17-01-2015
HGNC name ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1
HGNC id 13531
Location 4p13      Physical location : 42.410.391 - 42.659.122
Synonym name
  • ATPase II
  • aminophospholipid translocase
  • chromaffin granule ATPase II
  • probable phospholipid-transporting ATPase IA
  • Synonym symbol(s) ATPIA, ATPP2, ATPASEII, MGC130042, MGC130043, MGC26327
    EC.number 3.6.3.1
    DNA
    TYPE like-sequence
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 248.73 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure promoter is TATA-less and lacks a consensus initiator sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 8270 131 1164 - 2007 17239457
    36 - 8225 - 1149 - 2007 17239457
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
     nerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text expressed in red blood cells precursors
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to C. elegans Tat-1
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • P(4)-type ATPases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • present in the membrane of mature red cells
  • TMEM30A associated with and recruited ATP8A1 to the plasma membrane
  • basic FUNCTION
  • aminophospholipid transporting enzyme, which helps to maintain phospholipid asymmetry in cell membranes
  • having a flippase activity and can move phosphatidyl-serine molecules across the leaflets of the vesicle membrane in presence of ATP
  • plays a crucial role in plasma membrane-aminophospholipid translocase activity in the neuronal and hippocampal cells
  • plays a critical role in the control of cell migration (pMID: 23269685)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • phospholipid flippase complex of ATP8A1 and TMEM30A plays a major role in cell migration, suggesting that the flippase-mediated translocation of phosphatidylethanolamine at the plasma membrane is involved in the formation of membrane ruffles to promote cell migration
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to multiple sclerosis
    Variant & Polymorphism other increasing the risk of multiple sclerosis (Baranzini (2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS