Human Gene ATP6V0A1 (uc002hzs.3) Description and Page Index
  Description: Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.
RefSeq Summary (NM_001130020): 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 A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:40,610,862-40,674,597 Size: 63,736 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr17:40,612,913-40,673,138 Size: 60,226 Coding Exon Count: 20 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,610,862-40,674,597)mRNA (may differ from genome)Protein (838 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP6V0A1
CDC HuGE Published Literature: ATP6V0A1

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP6V0A1
Diseases sorted by gene-association score: inferior myocardial infarction (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.15 RPKM in Brain - Cerebellum
Total median expression: 1322.38 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 -84.10167-0.504 Picture PostScript Text
3' UTR -576.501459-0.395 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
  Pfam Domains:
PF01496 - V-type ATPase 116kDa subunit family

ModBase Predicted Comparative 3D Structure on Q93050-3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD FlyBase  
 Protein Sequence Protein Sequence  
 Alignment Alignment  

-  Descriptions from all associated GenBank mRNAs
  BD062201 - Gene diagnostic agent/gene therapeutic agent of tumor using tumor specific antigen and novel application of proton pump inhibitor as antitumor drug.
L78933 - Homo sapiens vacuolar-type H(+)-ATPase mRNA, complete cds.
Z71460 - Homo sapiens mRNA for vacuolar-type H(+)-ATPase 115 kDa subunit.
AK223554 - Homo sapiens mRNA for ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 variant, clone: FCC126F11.
AK299784 - Homo sapiens cDNA FLJ54439 complete cds, highly similar to Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1.
AK316305 - Homo sapiens cDNA, FLJ79204 complete cds, highly similar to Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1.
BX648978 - Homo sapiens mRNA; cDNA DKFZp686N0561 (from clone DKFZp686N0561).
AK294512 - Homo sapiens cDNA FLJ53780 complete cds, highly similar to Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1.
CR627443 - Homo sapiens mRNA; cDNA DKFZp781J1951 (from clone DKFZp781J1951).
BC032398 - Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1, mRNA (cDNA clone MGC:40328 IMAGE:5195776), complete cds.
AK295682 - Homo sapiens cDNA FLJ54433 complete cds, highly similar to Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1.
KJ890746 - Synthetic construct Homo sapiens clone ccsbBroadEn_00140 ATP6V0A1 gene, encodes complete protein.
AK294789 - Homo sapiens cDNA FLJ53786 complete cds, highly similar to Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1.
BC017826 - Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1, mRNA (cDNA clone IMAGE:4615963).
JD282839 - Sequence 263863 from Patent EP1572962.
JD497528 - Sequence 478552 from Patent EP1572962.
AL137683 - Homo sapiens mRNA; cDNA DKFZp434H202 (from clone DKFZp434H202); partial cds.
HZ409622 - JP 2015528002-A/2219: CHIRAL CONTROL.
LG052956 - KR 1020150036642-A/2222: CHIRAL CONTROL.
LZ238620 - WO 2017171048-A/281: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
AK125927 - Homo sapiens cDNA FLJ43939 fis, clone TESTI4014159.
AK098213 - Homo sapiens cDNA FLJ40894 fis, clone UTERU2002001.
JD538608 - Sequence 519632 from Patent EP1572962.
JD375670 - Sequence 356694 from Patent EP1572962.
JD372080 - Sequence 353104 from Patent EP1572962.
JD261081 - Sequence 242105 from Patent EP1572962.
JD234831 - Sequence 215855 from Patent EP1572962.
JD171342 - Sequence 152366 from Patent EP1572962.
JD324596 - Sequence 305620 from Patent EP1572962.
JD151231 - Sequence 132255 from Patent EP1572962.
JD455722 - Sequence 436746 from Patent EP1572962.
JD156662 - Sequence 137686 from Patent EP1572962.
AL096733 - Homo sapiens mRNA; cDNA DKFZp434E071 (from clone DKFZp434E071).
JD564736 - Sequence 545760 from Patent EP1572962.
JD112684 - Sequence 93708 from Patent EP1572962.
JD274291 - Sequence 255315 from Patent EP1572962.
JD088503 - Sequence 69527 from Patent EP1572962.
JD161124 - Sequence 142148 from Patent EP1572962.
JD487251 - Sequence 468275 from Patent EP1572962.
U18920 - Human chromosome 17q12-21 mRNA, clone pOV-3, partial cds.
JD206650 - Sequence 187674 from Patent EP1572962.
JD051109 - Sequence 32133 from Patent EP1572962.
JD260180 - Sequence 241204 from Patent EP1572962.
JD324940 - Sequence 305964 from Patent EP1572962.
JD418425 - Sequence 399449 from Patent EP1572962.
JD201662 - Sequence 182686 from Patent EP1572962.
JD403067 - Sequence 384091 from Patent EP1572962.
JD392492 - Sequence 373516 from Patent EP1572962.
JD060770 - Sequence 41794 from Patent EP1572962.
JD544523 - Sequence 525547 from Patent EP1572962.
JD219646 - Sequence 200670 from Patent EP1572962.
JD536999 - Sequence 518023 from Patent EP1572962.
JD535499 - Sequence 516523 from Patent EP1572962.
JD390345 - Sequence 371369 from Patent EP1572962.
JD190793 - Sequence 171817 from Patent EP1572962.
JD218995 - Sequence 200019 from Patent EP1572962.
JD252964 - Sequence 233988 from Patent EP1572962.
JD042924 - Sequence 23948 from Patent EP1572962.
JD443275 - Sequence 424299 from Patent EP1572962.
JD253587 - Sequence 234611 from Patent EP1572962.
JD466109 - Sequence 447133 from Patent EP1572962.
JD272795 - Sequence 253819 from Patent EP1572962.
MA806227 - WO 2018199275-A/487: Kit, device and method for detection of ovary tumor.
MA822605 - WO 2019004436-A/418: Kit, device, and method for detection of lung cancer.
LY616384 - KR 1020180129785-A/281: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04142 - Lysosome
hsa04966 - Collecting duct acid secretion
hsa05110 - Vibrio cholerae infection
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

Reactome (by CSHL, EBI, and GO)

Protein Q93050 (Reactome details) participates in the following event(s):

R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
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-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport
R-HSA-168256 Immune System
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-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ATP6N1, ATP6N1A, NM_001130020, NP_001123492, Q93050-3, VPP1
UCSC ID: uc002hzs.3
RefSeq Accession: NM_001130020
Protein: Q93050-3, splice isoform of Q93050 CCDS: CCDS11426.1, CCDS45683.1, CCDS45684.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130020.1
exon count: 21CDS single in 3' UTR: no RNA size: 4208
ORF size: 2517CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5083.00frame shift in genome: no % Coverage: 98.46
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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