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FLASH GENE
Symbol ATP8A1 contributors: mct - updated : 17-01-2013
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
    Physical map
    LOC201895 4p14 hypothetical protein LOC201895 HIP2 4p14 huntingtin interacting protein 2 LOC391646 4 similar to chromosome 6 open reading frame 46; Em:AF134726.1 KIAA0648 4p15.1-p11 similar to chromosome 6 open reading frame 46; Em:AF134726.1 PABPCP1 4p14 poly(A) binding protein, cytoplasmic, pseudogene 1 LOC391647 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC344967 4p14 similar to cytosolic acyl coenzyme A thioester hydrolase N4BP2 4p14 Nedd4 binding protein 2 ARHH 4p13 ras homolog gene family, member H LOC339997 4p14 hypothetical LOC339997 CHRNA9 4p15.1-p14 cholinergic receptor, nicotinic, alpha polypeptide 9 FLJ20273 4p13-p12 RNA-binding protein FLJ14001 4p14 hypothetical protein FLJ14001 APBB2 4p15.1-p14 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) UCHL1 4p15.1-p14 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) KIAA1102 4p13-p11 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) PHOX2B 4p12 paired-like homeobox 2b FLJ10525 4p14 hypothetical protein FLJ10525 LOC285429 4p14 hypothetical protein LOC285429 SLC30A9 4p13-p12 solute carrier family 30 (zinc transporter), member 9 ATP1BL1 4p15-q13 ATPase, Na+/K+ transporting, beta polypeptide-like 1 LOC389206 4 hypothetical gene supported by AK125953 ATP8A1 4p14-p12 ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1 LOC389207 4 similar to ENSANGP00000012385 LOC345302 4p13 similar to ribosomal protein S2; 40S ribosomal protein S2 PGBD3P4 4p14 piggyBac transposable element derived 3 pseudogene 4 KCTD8 4p13 potassium channel tetramerisation domain containing 8 FLJ39576 4p13 hypothetical protein FLJ39576 FLJ13220 4p13 hypothetical protein FLJ13220 GNPDA2 4p13 glucosamine-6-phosphate deaminase 2
    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