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FLASH GENE
Symbol ATP6AP1 contributors: mct - updated : 12-09-2017
HGNC name ATPase, H+ transporting, lysosomal accessory protein 1
HGNC id 868
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...) Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal signas sequence and C terminal transmembrane domain
  • domains located in the N- and C-terminal portions of ATP6AP1 protein direct its trafficking, V-ATPase recruitment and Ca(2+)-dependent-regulated exocytosis
  • cytoplasmic terminus of ATP6AP1 is required for proper interaction with V(0) domain subunits and efficient osteoclastic bone resorption
  • secondary structure ten subunits
    conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Atp6s1
    Homologene
    FAMILY V-ATPase family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,granule
    text
  • neuroendocrine secretory granules
  • integral membrane protein
  • basic FUNCTION
  • vacuolar proton pump mediating acidification of intracellular organelles (necessary for protein sorting zymogen activation and receptor mediated endocytosis)
  • assisting in the V-ATPase mediated acidification of neuroendocrine secretory granules
  • essential role for ATP6AP1 in early embryonic development
  • in the plasma membrane of a variety of cells ATP6A1 serves as an acid-secreting pathway, and its activity is closely related to cellular functions
  • participates in both osteoclast formation and function, but plays versatile roles during osteoclast formation and function
  • essential role in osteoclast-mediated extracellular acidification and protease exocytosis, as well as the ability of ATP6AP1 to guide lysosomal intracellular trafficking to the ruffled border, potentially through its interaction with the small GTPase RAB7A
  • crucial for maintenance of the acidic microenvironment in intracellular organelles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport , electron transport
    text proton transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of a multisubunit enzyme comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain
  • composed of at least ten subunits
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • important role for furin in regulated secretion, particularly in intragranular acidification most likely due to impaired processing of ATP6AP1
  • accessory subunit of vacuolar-type H(+)-ATPases (V-ATPases), highly induced by receptor activator for nuclear factor kappa B ligand (TNFSF11) in osteoclast differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD47
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS