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ATP6V0B

From Wikipedia, the free encyclopedia
Protein-coding gene in Homo sapiens
ATP6V0B
Identifiers
AliasesATP6V0B, ATP6F, HATPL, VMA16, ATPase H+ transporting V0 subunit b
External IDsOMIM:603717;MGI:1890510;HomoloGene:2986;GeneCards:ATP6V0B;OMA:ATP6V0B - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ATP6V0B
Genomic location for ATP6V0B
Band1p34.1Start43,974,487bp[1]
End43,978,295bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for ATP6V0B
Genomic location for ATP6V0B
Band4|4 D1Start117,741,523bp[2]
End117,744,530bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • anterior pituitary

  • monocyte

  • prefrontal cortex

  • body of pancreas

  • mucosa of transverse colon

  • blood

  • right frontal lobe

  • periodontal fiber

  • right adrenal gland
Top expressed in
  • facial motor nucleus

  • neural layer of retina

  • granulocyte

  • primary visual cortex

  • choroid plexus of fourth ventricle

  • superior frontal gyrus

  • right kidney

  • vestibular membrane of cochlear duct

  • stroma of bone marrow

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

533

114143

Ensembl

ENSG00000117410

ENSMUSG00000033379

UniProt

Q99437

Q91V37

RefSeq (mRNA)

NM_004047
NM_001039457
NM_001294333

NM_033617

RefSeq (protein)

NP_001034546
NP_001281262
NP_004038

NP_291095

Location (UCSC)Chr 1: 43.97 – 43.98 MbChr 4: 117.74 – 117.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-typeproton ATPase 21 kDaproteolipid subunit is anenzyme that in humans is encoded by theATP6V0Bgene.[5][6]

This gene encodes a component ofvacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification ofeukaryotic intracellularorganelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes asprotein sorting,zymogen activation,receptor-mediated endocytosis, andsynaptic vesicleproton gradient generation. V-ATPase is composed of acytosolic 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 ATPcatalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d.

Additionalisoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes, or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain, and is the human counterpart ofyeast VMA16. Two alternatively spliced transcript variants that encode different proteins have been found for this gene.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000117410Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000033379Ensembl, 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. ^Nishigori H, Yamada S, Tomura H, Fernald AA, Le Beau MM, Takeuchi T, Takeda J (Oct 1998). "Identification and characterization of the gene encoding a second proteolipid subunit of human vacuolar H(+)-ATPase (ATP6F)".Genomics.50 (2):222–8.doi:10.1006/geno.1998.5310.PMID 9653649.
  6. ^ab"Entrez Gene: ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b".

External links

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Further reading

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