Protein-coding gene in the species Homo sapiens
ATP6V1D |
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Identifiers |
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Aliases | ATP6V1D, ATP6M, VATD, VMA8, ATPase H+ transporting V1 subunit D |
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External IDs | OMIM: 609398; MGI: 1921084; HomoloGene: 5783; GeneCards: ATP6V1D; OMA:ATP6V1D - orthologs |
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Gene location (Human) |
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![Chromosome 14 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/7/78/Ideogram_human_chromosome_14.svg/300px-Ideogram_human_chromosome_14.svg.png) | Chr. | Chromosome 14 (human)[1] |
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| Band | 14q23.3 | Start | 67,294,371 bp[1] |
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End | 67,360,265 bp[1] |
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Gene location (Mouse) |
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![Chromosome 12 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/ca/Ideogram_house_mouse_chromosome_12.svg/260px-Ideogram_house_mouse_chromosome_12.svg.png) | Chr. | Chromosome 12 (mouse)[2] |
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| Band | 12 C3|12 35.51 cM | Start | 78,887,499 bp[2] |
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End | 78,908,412 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - endothelial cell
- middle temporal gyrus
- Brodmann area 23
- pons
- lateral nuclear group of thalamus
- prefrontal cortex
- Brodmann area 9
- Pars compacta
- kidney tubule
- superior vestibular nucleus
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| Top expressed in | - motor neuron
- facial motor nucleus
- Epithelium of choroid plexus
- vestibular membrane of cochlear duct
- substantia nigra
- nucleus accumbens
- temporal lobe
- amygdala
- prefrontal cortex
- retinal pigment epithelium
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - ATPase-coupled transmembrane transporter activity
- protein binding
- proton-transporting ATPase activity, rotational mechanism
| Cellular component | - cytosol
- centrosome
- membrane
- cilium
- lysosomal membrane
- proton-transporting V-type ATPase complex
- extracellular exosome
- plasma membrane
- specific granule membrane
| Biological process | - insulin receptor signaling pathway
- transferrin transport
- ion transport
- ion transmembrane transport
- cell projection organization
- protein localization to cilium
- regulation of macroautophagy
- phagosome acidification
- neutrophil degranulation
- cilium assembly
- transport
- proton transmembrane transport
- transmembrane transport
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 14: 67.29 – 67.36 Mb | Chr 12: 78.89 – 78.91 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D 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 gene encodes the V1 domain D subunit protein.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100554 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021114 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Stevens TH, Forgac M (Feb 1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu Rev Cell Dev Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID 9442887.
- ^ a b "Entrez Gene: ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D".
External links
Further reading
- Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 (3): 697–712. doi:10.1042/bj3240697. PMC 1218484. PMID 9210392.
- Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. doi:10.1152/physrev.1999.79.2.361. PMID 10221984. S2CID 1477911.
- Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. doi:10.1074/jbc.274.19.12951. PMID 10224039.
- Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. doi:10.1023/A:1001884227654. PMID 10340843.
- Wieczorek H, Brown D, Grinstein S, et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID 10440860. S2CID 23505139.
- Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol. 3 (2): 94–103. doi:10.1038/nrm729. PMID 11836511. S2CID 21122465.
- Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett. 545 (1): 76–85. doi:10.1016/S0014-5793(03)00396-X. PMID 12788495. S2CID 10507213.
- Morel N (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–7. doi:10.1016/S0248-4900(03)00075-3. PMID 14597263.
- Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Kennell JA, Richards NW, Schaner PE, Gumucio DL (2001). "cDNA cloning, chromosomal localization and evolutionary analysis of mouse vacuolar ATPase subunit D, Atp6m". Cytogenet. Cell Genet. 92 (3–4): 337–41. doi:10.1159/000056924. PMID 11435709. S2CID 10147842.
- Yang CS, Weiner H (2002). "Yeast two-hybrid screening identifies binding partners of human Tom34 that have ATPase activity and form a complex with Tom34 in the cytosol". Arch. Biochem. Biophys. 400 (1): 105–10. doi:10.1006/abbi.2002.2778. PMID 11913976.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.