Human Gene ATP6V1G2 (uc011gxy.2) Description and Page Index
Description: Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 (ATP6V1G2), transcript variant 1, mRNA. RefSeq Summary (NM_130463): This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: chr6_mann_hap4:2,855,124-2,857,517 Size: 2,394 Total Exon Count: 3 Strand: - Coding Region Position: chr6_mann_hap4:2,856,081-2,857,228 Size: 1,148 Coding Exon Count: 3
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Comments and Description Text from UniProtKB
ID:VATG2_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase subunit G 2; Short=V-ATPase subunit G 2; AltName: Full=V-ATPase 13 kDa subunit 2; AltName: Full=Vacuolar proton pump subunit G 2; FUNCTION: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d) (By similarity). INTERACTION: P36543:ATP6V1E1; NbExp=1; IntAct=EBI-348290, EBI-348639; SUBCELLULAR LOCATION: Melanosome. Note=Highly enriched in late- stage melanosomes. TISSUE SPECIFICITY: Brain. SIMILARITY: Belongs to the V-ATPase G subunit family.
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03179 - Vacuolar (H+)-ATPase G subunit
ModBase Predicted Comparative 3D Structure on O95670
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.