Homo sapiens Gene: ATP6V1G2
Summary
InnateDB Gene IDBG-238100.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP6V1G2
Gene Name ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Synonyms ATP6G; ATP6G2; NG38; VMA10;
Species Homo sapiens
Ensembl Gene ENSG00000213760
Encoded Proteins
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:31544462-31548427
Strand Reverse strand
Band p21.33
Transcripts
ENST00000303892 ENSP00000302194
ENST00000376151 ENSP00000365321
ENST00000415099 ENSP00000390148
ENST00000483251 ENSP00000419698
ENST00000483170
ENST00000481998
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
Biological Process
GO:0006879 cellular iron ion homeostasis
GO:0008286 insulin receptor signaling pathway
GO:0015992 proton transport
GO:0033572 transferrin transport
GO:0051701 interaction with host
GO:0055085 transmembrane transport
GO:0090382 phagosome maturation
Cellular Component
GO:0005829 cytosol
GO:0016471 vacuolar proton-transporting V-type ATPase complex
GO:0042470 melanosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Iron uptake and transport pathway
Insulin receptor recycling pathway
Signal Transduction pathway
Transferrin endocytosis and recycling pathway
Phagosomal maturation (early endosomal stage) pathway
Signaling by Insulin receptor pathway
Latent infection of Homo sapiens with Mycobacterium tuberculosis pathway
Disease pathway
KEGG
Oxidative phosphorylation pathway
Phagosome pathway
Collecting duct acid secretion pathway
Vibrio cholerae infection pathway
Epithelial cell signaling in Helicobacter pylori infection pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H0Y474
UniProt Splice Variant
Entrez Gene 534
UniGene Hs.249227
RefSeq NM_001204078 NM_130463 NM_138282
HUGO HGNC:862
OMIM 606853
CCDS CCDS4698 CCDS4699 CCDS56413
HPRD 06030
IMGT
EMBL AL662801
GenPept
RNA Seq Atlas 534