ATP6V1H

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ATP6V1H
Identifiers
AliasesATP6V1H, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13, CGI-11, ATPase H+ transporting V1 subunit H
External IDsMGI: 1914864 HomoloGene: 7139 GeneCards: ATP6V1H
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for ATP6V1H
Genomic location for ATP6V1H
Band8q11.23Start53,715,557 bp[1]
End53,843,558 bp[1]
RNA expression pattern
PBB GE ATP6V1H 221504 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015941
NM_213619
NM_213620

NM_133826
NM_001310442

RefSeq (protein)

NP_057025
NP_998784
NP_998785
NP_998784.1

NP_001297371
NP_598587

Location (UCSC)Chr 8: 53.72 – 53.84 MbChr 1: 5.07 – 5.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.[5][6][7]

Function[edit]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000047249 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033793 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. doi:10.1016/S1074-7613(00)80569-5. PMID 9620685. 
  6. ^ 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. doi:10.1101/gr.10.5.703. PMC 310876Freely accessible. PMID 10810093. 
  7. ^ a b "Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H". 

External links[edit]

Further reading[edit]