ATP6V1H

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ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Identifiers
Symbols ATP6V1H ; MSTP042; NBP1; SFD; SFDalpha; SFDbeta; VMA13
External IDs OMIM608861 MGI1914864 HomoloGene7139 GeneCards: ATP6V1H Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6V1H 221504 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51606 108664
Ensembl ENSG00000047249 ENSMUSG00000033793
UniProt Q9UI12 Q8BVE3
RefSeq (mRNA) NM_015941 NM_133826
RefSeq (protein) NP_057025 NP_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]

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[edit]

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

Further reading[edit]