ATP6V1A

ATP6V1A
Identifiers
Aliases	ATP6V1A, ATP6A1, ATP6V1A1, HO68, VA68, VPP2, Vma1, ATPase H+ transporting V1 subunit A, ARCL2D, IECEE3, DEE93
External IDs	OMIM: 607027 MGI: 1201780 HomoloGene: 123934 GeneCards: ATP6V1A
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q13.31 Start 113,747,033 bp[1] End 113,812,056 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 B4 Start 43,905,765 bp[2] End 43,960,068 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus pons endothelial cell kidney tubule orbitofrontal cortex cerebellar vermis renal medulla frontal pole superior vestibular nucleus Top expressed in cingulate gyrus ventromedial nucleus primary motor cortex dentate gyrus facial motor nucleus medial dorsal nucleus medial vestibular nucleus pontine nuclei mammillary body entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding hydrolase activity ATP binding proton-transporting ATPase activity, rotational mechanism Cellular component proton-transporting V-type ATPase, V1 domain cytosol myelin sheath plasma membrane proton-transporting two-sector ATPase complex integral component of plasma membrane microvillus lysosomal membrane apical plasma membrane mitochondrion extracellular exosome cytoplasm vacuolar membrane Biological process insulin receptor signaling pathway transferrin transport ion transport ion transmembrane transport ATP metabolic process regulation of macroautophagy phagosome acidification cellular iron ion homeostasis cellular response to increased oxygen levels transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 523 11964 Ensembl ENSG00000114573 ENSMUSG00000052459 UniProt P38606 P50516 RefSeq (mRNA) NM_001690 NM_007508 NM_001358203 NM_001358204 RefSeq (protein) NP_001681 NP_031534 NP_001345132 NP_001345133 Location (UCSC) Chr 3: 113.75 – 113.81 Mb Chr 16: 43.91 – 43.96 Mb PubMed search [3] [4]
Wikidata
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V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.^[5][6]

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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist.^[6]

References

External links

• Human ATP6V1A genome location and ATP6V1A gene details page in the UCSC Genome Browser.

Further reading

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 13 October 2022, at 02:36