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FLASH GENE
Symbol ATP6V1B1 contributors: - updated : 10-11-2006
HGNC name ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness)
HGNC id 853
Corresponding disease
DRTAB1 distal renal tubular acidosis, 1
Location 2p13      Physical location : 71.162.997 - 71.192.560
Synonym symbol(s) VPP3, VATB, ATP6B1, VAM2, RTA1B
EC.number 3.6.3.34
DNA
TYPE functioning gene
STRUCTURE 29.00 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - D2S370 - D2S2397 - D2S134 - [D2S441 - D2S292 - D2S1394 ] - D2S286 - D2S1774 - D2S1777 - cen
Text [ATP6B1 ]
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea  
Reproductivefemale systemovary   
 female systemplacenta   
 female systembreastmammary gland  
urinarykidneynephrondistal convoluted tubule  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nucleotide-binding domain
  • ATP synthase alpha/beta chain, C terminal domain
  • HOMOLOGY
    Homologene
    FAMILY V-ATPase family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • ATPase synthase H+ transporting, catalytic subunit of the peripheral V1 complex of the vacuolar proton pump
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling sensory transduction/hearing
    a component
  • component of the heteromultimeric complex composed of a peripheral catalytic V1 complex attached to an integral V0 membrane pore complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DRTAB1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS