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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
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