Human Gene ATP6V1G3 (ENST00000281087.6) from GENCODE V44
  Description: Homo sapiens ATPase H+ transporting V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA. (from RefSeq NM_133262)
RefSeq Summary (NM_133262): 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 one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000281087.6
Gencode Gene: ENSG00000151418.12
Transcript (Including UTRs)
   Position: hg38 chr1:198,523,224-198,540,945 Size: 17,722 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr1:198,523,391-198,540,650 Size: 17,260 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:198,523,224-198,540,945)mRNA (may differ from genome)Protein (118 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VATG3_HUMAN
DESCRIPTION: RecName: Full=V-type proton ATPase subunit G 3; Short=V-ATPase subunit G 3; AltName: Full=V-ATPase 13 kDa subunit 3; AltName: Full=Vacuolar proton pump subunit G 3;
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).
TISSUE SPECIFICITY: Kidney.
SIMILARITY: Belongs to the V-ATPase G subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.24 RPKM in Kidney - Cortex
Total median expression: 13.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.00106-0.170 Picture PostScript Text
3' UTR -29.30167-0.175 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005124 - V-ATPase_G

Pfam Domains:
PF03179 - Vacuolar (H+)-ATPase G subunit

ModBase Predicted Comparative 3D Structure on Q96LB4
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0051117 ATPase binding

Biological Process:
GO:0006811 ion transport
GO:0008286 insulin receptor signaling pathway
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016471 vacuolar proton-transporting V-type ATPase complex


-  Descriptions from all associated GenBank mRNAs
  BC101129 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3, mRNA (cDNA clone MGC:119810 IMAGE:40014378), complete cds.
BC101130 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3, mRNA (cDNA clone MGC:119811 IMAGE:40014381), complete cds.
BC101131 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3, mRNA (cDNA clone MGC:119813 IMAGE:40014383), complete cds.
AY039760 - Homo sapiens V-ATPase G3 subunit (ATP6V1G3) mRNA, complete cds.
KJ895429 - Synthetic construct Homo sapiens clone ccsbBroadEn_04823 ATP6V1G3 gene, encodes complete protein.
KJ903729 - Synthetic construct Homo sapiens clone ccsbBroadEn_13123 ATP6V1G3 gene, encodes complete protein.
JD331512 - Sequence 312536 from Patent EP1572962.
JD356038 - Sequence 337062 from Patent EP1572962.
JD315224 - Sequence 296248 from Patent EP1572962.
JD524934 - Sequence 505958 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04966 - Collecting duct acid secretion
hsa05110 - Vibrio cholerae infection
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

Reactome (by CSHL, EBI, and GO)

Protein Q96LB4 (Reactome details) participates in the following event(s):

R-HSA-5252133 ATP6AP1 binds V-ATPase
R-HSA-1222516 Intraphagosomal pH is lowered to 5 by V-ATPase
R-HSA-74723 Endosome acidification
R-HSA-917841 Acidification of Tf:TfR1 containing endosome
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport
R-HSA-74752 Signaling by Insulin receptor
R-HSA-917937 Iron uptake and transport
R-HSA-382551 Transport of small molecules
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168249 Innate Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ATP6G3, ENST00000281087.1, ENST00000281087.2, ENST00000281087.3, ENST00000281087.4, ENST00000281087.5, NM_133262, Q495K2, Q495K4, Q5T9L6, Q96LB4, uc001gup.1, uc001gup.2, uc001gup.3, uc001gup.4, VATG3_HUMAN
UCSC ID: ENST00000281087.6
RefSeq Accession: NM_133262
Protein: Q96LB4 (aka VATG3_HUMAN or VAG3_HUMAN)
CCDS: CCDS1395.1, CCDS81414.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.