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FLASH GENE
Symbol ATP10A contributors: mct - updated : 29-06-2021
HGNC name ATPase, Class V, type 10A
HGNC id 13542
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
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • integral to membrane
    • basic FUNCTION
  • aminophospholipid and calcium transporting gene
  • may contribute to the Angelman syndrome phenotype
  • translocates phosphatidylcholine and is involved in plasma membrane dynamics
    • 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
  • ATP8B1, ATP8B2, and ATP10A transport phosphatidylcholine but not aminophospholipids
  • ATP10A is delivered to the plasma membrane via its interaction with TMEM30A and, specifically, flips phosphatidylcholine (PC) at the plasma membrane
    • 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
    constitutional     --over  
    in Hereditary spastic paraplegias (HSPs) with intellectual disability (ID)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice