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ATP6V1H

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ATP6V1H
Identifiers
AliasesATP6V1H, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13, CGI-11, ATPase H+ transporting V1 subunit H
External IDsOMIM:608861;MGI:1914864;HomoloGene:7139;GeneCards:ATP6V1H;OMA:ATP6V1H - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for ATP6V1H
Genomic location for ATP6V1H
Band8q11.23Start53,715,543bp[1]
End53,843,558bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for ATP6V1H
Genomic location for ATP6V1H
Band1|1 A1Start5,070,018bp[2]
End5,162,529bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • middle temporal gyrus

  • Brodmann area 9

  • prefrontal cortex

  • right frontal lobe

  • Amygdala

  • nucleus accumbens

  • caudate nucleus

  • cingulate gyrus

  • hippocampus proper

  • anterior cingulate cortex
Top expressed in
  • stroma of bone marrow

  • anterior horn of spinal cord

  • right kidney

  • dentate gyrus of hippocampal formation granule cell

  • spermatocyte

  • facial motor nucleus

  • superior cervical ganglion

  • Amygdala

  • cingulate gyrus

  • medial vestibular nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51606

108664

Ensembl

ENSG00000047249

ENSMUSG00000033793

UniProt

Q9UI12

Q8BVE3

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 anenzyme that in humans is encoded by theATP6V1Hgene.[5][6][7]

Function

[edit]

This gene encodes a component ofvacuolarATPase (V-ATPase), a multisubunit enzyme that mediates acidification ofeukaryotic intracellularorganelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting,zymogen activation, receptor-mediatedendocytosis, andsynaptic 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. ^abcGRCh38: Ensembl release 89: ENSG00000047249Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000033793Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  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 310876.PMID 10810093.
  7. ^ab"Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H".

External links

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Further reading

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