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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
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