Protein-coding gene in the species Homo sapiens
ATP6V1C2 |
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Identifiers |
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Aliases | ATP6V1C2, ATP6C2, VMA5, ATPase H+ transporting V1 subunit C2 |
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External IDs | OMIM: 618070; MGI: 1916025; HomoloGene: 15866; GeneCards: ATP6V1C2; OMA:ATP6V1C2 - orthologs |
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Gene location (Human) |
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![Chromosome 2 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Ideogram_human_chromosome_2.svg/300px-Ideogram_human_chromosome_2.svg.png) | Chr. | Chromosome 2 (human)[1] |
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| Band | 2p25.1 | Start | 10,721,100 bp[1] |
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End | 10,785,110 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|12 A1.1 | Start | 17,334,722 bp[2] |
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End | 17,379,360 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - skin of abdomen
- skin of leg
- secondary oocyte
- minor salivary glands
- anterior pituitary
- human kidney
- olfactory zone of nasal mucosa
- skin of thigh
- parotid gland
- placenta
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| Top expressed in | - lip
- esophagus
- skin of external ear
- olfactory epithelium
- left lung
- right kidney
- left lung lobe
- right lung
- right lung lobe
- skin of back
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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 | - protein binding
- protein dimerization activity
- proton transmembrane transporter activity
- P-type proton-exporting transporter activity
- proton-transporting ATPase activity, rotational mechanism
| Cellular component | - proton-transporting V-type ATPase, V1 domain
- lysosomal membrane
- cytosol
- extracellular exosome
- vacuolar proton-transporting V-type ATPase, V1 domain
| Biological process | - positive regulation of Wnt signaling pathway
- insulin receptor signaling pathway
- ion transmembrane transport
- ion transport
- transferrin transport
- regulation of macroautophagy
- phagosome acidification
- 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 2: 10.72 – 10.79 Mb | Chr 12: 17.33 – 17.38 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 C 2 is an enzyme that in humans is encoded by the ATP6V1C2 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143882 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020566 – 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.
- ^ Smith AN, Borthwick KJ, Karet FE (Oct 2002). "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis". Gene. 297 (1–2): 169–77. doi:10.1016/S0378-1119(02)00884-3. PMID 12384298.
- ^ a b "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".
External links