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Open Access Articles- Top Results for ATP6V1H

ATP6V1H

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Identifiers
SymbolsATP6V1H ; MSTP042; NBP1; SFD; SFDalpha; SFDbeta; VMA13
External IDsOMIM608861 MGI1914864 HomoloGene7139 IUPHAR: 822 GeneCards: ATP6V1H Gene
EC number3.6.3.14
RNA expression pattern
File:PBB GE ATP6V1H 221504 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez51606108664
EnsemblENSG00000047249ENSMUSG00000033793
UniProtQ9UI12Q8BVE3
RefSeq (mRNA)NM_015941NM_133826
RefSeq (protein)NP_057025NP_598587
Location (UCSC)Chr 8:
54.63 – 54.76 Mb
Chr 1:
5.08 – 5.16 Mb
PubMed search[1][2]

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.[1][2][3]

Function

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit.[3]

References

  1. ^ Lu X, Yu H, Liu SH, Brodsky FM, Peterlin BM (May 1998). "Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4". Immunity 8 (5): 647–56. PMID 9620685. doi:10.1016/S1074-7613(00)80569-5. 
  2. ^ Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research 10 (5): 703–13. PMC 310876. PMID 10810093. doi:10.1101/gr.10.5.703. 
  3. ^ a b "Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H". 

Further reading

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