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FLASH GENE
Symbol ATP6V1H contributors: mct - updated : 01-10-2012
HGNC name ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
HGNC id 18303
Location 8q11.23      Physical location : 54.628.115 - 54.755.850
Synonym name
  • Nef binding protein 1
  • vacuolar proton pump subunit H
  • V-type proton ATPase subunit H
  • Synonym symbol(s) VMA13, CGI-11, SFD beta, SFD alpha, NBP1, VATH, V-ATPase
    EC.number 3.6.3.14
    DNA
    TYPE functioning gene
    STRUCTURE 127.77 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2132 - 465 - 2002 12163484
    14 - 2186 - 483 - 2002 12163484
    14 - 2080 - 483 - 2002 12163484
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid    
    Nervousbraindiencephalonhypothalamus  
    Reproductivemale systemprostate   
    Urinarykidney     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Vma13p
    Homologene
    FAMILY V-ATPase H subunit family
    CATEGORY enzyme , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • providing most of the energy required for transport processes in the vacuolar system
  • novel function of the V-ATPase as a signaling receptor that modulates activity of CYTH2 and Arf GTP-binding proteins
  • evolutionarily conserved function of the ATP6V1H as a novel cytohesin-signaling receptor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text hydrogen ion transport
    PATHWAY
    metabolism energetic , hormone , other
    signaling
    ATP synthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEF
  • MTOR is linked to a critical component of the late endosome/lysosome, ATP6V1H (regulation by MTOR involves a transcription factor translocated in renal cancer, TFEB)
  • functions as a pH-sensing receptor by interacting with the Arf-GEF CYTH2 in an acidification-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    associated with type 2 diabetes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS