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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
Corresponding disease
IMD47 Immunodeficiency 47
Location Xq28      Physical location : 153.656.977 - 153.664.862
Synonym name
  • DNA segment,single copy,probe 1010-8/9 (EST)
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
  • ATPase, H+ transporting, lysosomal interacting protein 1
  • V-ATPase S1 accessory protein
  • Synonym symbol(s) ATP6IP1, 16A, DXS1010E, VATPS1, XAP3, ORF, VAS1, ATP6S1, CF2, AC45
    EC.number 3.6.3.14
    DNA
    TYPE functioning gene
    STRUCTURE 7.89 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see FLNA
    Physical map
    OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3 DXS9879E Xq28 DNA segment on chromosome X (unique) 9879 expressed sequence UBL4 Xq28 ubiquitin-like 4 SLC10A3 Xq28 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma SPCX Xq28 SPCX LAGE2A  cancer/testis antigen 1-A CTAG1 Xq28 cancer/testis antigen 1 LOC340600 Xq28 cyclic-AMP-dependent transcription factor ATF-4 pseudogene deltaNEMO Xq28 deltaNEMO CTAG2 Xq28 cancer/testis antigen 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2100 - 470 - 2011 21622230
    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