Human Gene ATP6V1E1 (uc002zmr.1) Description and Page Index
  Description: Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA.
RefSeq Summary (NM_001696): 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 E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr22:18,074,903-18,111,588 Size: 36,686 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr22:18,075,440-18,111,401 Size: 35,962 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:18,074,903-18,111,588)mRNA (may differ from genome)Protein (226 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=V-type proton ATPase subunit E 1; Short=V-ATPase subunit E 1; AltName: Full=V-ATPase 31 kDa subunit; Short=p31; AltName: Full=Vacuolar proton pump subunit E 1;
FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. 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). Interacts with ALDOC.
SIMILARITY: Belongs to the V-ATPase E subunit family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP6V1E1
CDC HuGE Published Literature: ATP6V1E1
Positive Disease Associations: Bipolar Disorder
Related Studies:
  1. Bipolar Disorder
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP6V1E1
Diseases sorted by gene-association score: cutis laxa, autosomal recessive, type iic* (1200), autosomal recessive cutis laxa type 2, classic type* (247), cutis laxa (15), cat eye syndrome (5)
* = Manually curated disease association

-  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: 165.89 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 3708.50 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 -51.70187-0.276 Picture PostScript Text
3' UTR -169.64537-0.316 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
IPR002842 - ATPase_V1/A1-cplx_esu

Pfam Domains:
PF01991 - ATP synthase (E/31 kDa) subunit

ModBase Predicted Comparative 3D Structure on P36543
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 BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism
GO:0016787 hydrolase activity
GO:0046961 proton-transporting ATPase activity, rotational mechanism
GO:0051117 ATPase binding

Biological Process:
GO:0006811 ion transport
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0016241 regulation of macroautophagy
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005829 cytosol
GO:0005902 microvillus
GO:0016324 apical plasma membrane
GO:0016469 proton-transporting two-sector ATPase complex
GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  LF384184 - JP 2014500723-A/191687: Polycomb-Associated Non-Coding RNAs.
X76228 - H.sapiens mRNA for vacuolar H+ ATPase E subunit.
BC004443 - Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1, mRNA (cDNA clone MGC:4040 IMAGE:2820930), complete cds.
AK315941 - Homo sapiens cDNA, FLJ78840 complete cds, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal 31 kDa, V1 subunit 0E1 (ATP6V1E1).
X71491 - H.sapiens mRNA for vacuolar proton ATPase, subunit E.
AK294623 - Homo sapiens cDNA FLJ51833 complete cds, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 2, mRNA.
CR456385 - Homo sapiens ATP6E full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.ATP6E.V2).
KJ890743 - Synthetic construct Homo sapiens clone ccsbBroadEn_00137 ATP6V1E1 gene, encodes complete protein.
CU012943 - Homo sapiens ATP6V1E1, mRNA (cDNA clone IMAGE:100000107), complete cds, with stop codon, in Gateway system.
AK312394 - Homo sapiens cDNA, FLJ92725, Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit Eisoform 1 (ATP6V1E1), mRNA.
BT007128 - Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 mRNA, complete cds.
EU831478 - Synthetic construct Homo sapiens clone HAIB:100066507; DKFZo008G0817 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 protein (ATP6V1E1) gene, encodes complete protein.
EU831565 - Synthetic construct Homo sapiens clone HAIB:100066594; DKFZo004G0818 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 protein (ATP6V1E1) gene, encodes complete protein.
CU013231 - Homo sapiens ATP6V1E1, mRNA (cDNA clone IMAGE:100000011), complete cds, without stop codon, in Gateway system.
AB528072 - Synthetic construct DNA, clone: pF1KE0484, Homo sapiens ATP6V1E1 gene for ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1, without stop codon, in Flexi system.
JD024506 - Sequence 5530 from Patent EP1572962.
MA619761 - JP 2018138019-A/191687: Polycomb-Associated Non-Coding RNAs.
JD459507 - Sequence 440531 from Patent EP1572962.
JD473427 - Sequence 454451 from Patent EP1572962.
JD281216 - Sequence 262240 from Patent EP1572962.
JD396679 - Sequence 377703 from Patent EP1572962.
JD228360 - Sequence 209384 from Patent EP1572962.
JD164194 - Sequence 145218 from Patent EP1572962.
JD535270 - Sequence 516294 from Patent EP1572962.
LF365614 - JP 2014500723-A/173117: Polycomb-Associated Non-Coding RNAs.
JD347512 - Sequence 328536 from Patent EP1572962.
JD501009 - Sequence 482033 from Patent EP1572962.
JD023561 - Sequence 4585 from Patent EP1572962.
JD034005 - Sequence 15029 from Patent EP1572962.
JD552910 - Sequence 533934 from Patent EP1572962.
JD145938 - Sequence 126962 from Patent EP1572962.
LF365615 - JP 2014500723-A/173118: Polycomb-Associated Non-Coding RNAs.
JD028973 - Sequence 9997 from Patent EP1572962.
MA601191 - JP 2018138019-A/173117: Polycomb-Associated Non-Coding RNAs.
MA601192 - JP 2018138019-A/173118: Polycomb-Associated Non-Coding RNAs.
LF365616 - JP 2014500723-A/173119: Polycomb-Associated Non-Coding RNAs.
LF365618 - JP 2014500723-A/173121: Polycomb-Associated Non-Coding RNAs.
MA601193 - JP 2018138019-A/173119: Polycomb-Associated Non-Coding RNAs.
MA601195 - JP 2018138019-A/173121: Polycomb-Associated Non-Coding RNAs.

-  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 P36543 (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: A8MUE4, ATP6E, ATP6E2, NM_001696, NP_001687, P36543, VATE1_HUMAN
UCSC ID: uc002zmr.1
RefSeq Accession: NM_001696
Protein: P36543 (aka VATE1_HUMAN)
CCDS: CCDS13745.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001696.3
exon count: 9CDS single in 3' UTR: no RNA size: 1406
ORF size: 681CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1439.00frame shift in genome: no % Coverage: 99.93
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.