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Aliases for ATP6V1E1 Gene

Aliases for ATP6V1E1 Gene

  • ATPase H+ Transporting V1 Subunit E1 2 3 5
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E1 2 3
  • Vacuolar Proton Pump Subunit E 1 3 4
  • V-ATPase 31 KDa Subunit 3 4
  • V-ATPase Subunit E 1 3 4
  • ATP6E2 3 4
  • ATP6E 3 4
  • P31 3 4
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 1 2
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD 2
  • H(+)-Transporting Two-Sector ATPase, 31kDa Subunit 3
  • H+-Transporting ATP Synthase Chain E, Vacuolar 3
  • V-Type Proton ATPase Subunit E 1 3
  • V-ATPase, Subunit E 3
  • ATP6V1E 3
  • ARCL2C 3
  • Vma4 3

External Ids for ATP6V1E1 Gene

Previous HGNC Symbols for ATP6V1E1 Gene

  • ATP6E
  • ATP6V1E

Previous GeneCards Identifiers for ATP6V1E1 Gene

  • GC22M015015
  • GC22M016449
  • GC22M018074
  • GC22M001890

Summaries for ATP6V1E1 Gene

Entrez Gene Summary for ATP6V1E1 Gene

  • 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]

GeneCards Summary for ATP6V1E1 Gene

ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V1E1 include Cat Eye Syndrome. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ATPase binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E2.

UniProtKB/Swiss-Prot for ATP6V1E1 Gene

  • 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.

Tocris Summary for ATP6V1E1 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1E1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1E1 Gene

Genomics for ATP6V1E1 Gene

Regulatory Elements for ATP6V1E1 Gene

Enhancers for ATP6V1E1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G017631 1.5 Ensembl ENCODE dbSUPER 15.4 -4.7 -4694 3.2 HDGF FOXA2 PKNOX1 ARNT TCF12 FOS ZNF263 REST ZNF592 CREB3 BID ATP6V1E1 SLC25A18 BCL2L13 PIR47030
GH22G017671 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -44.3 -44324 2.5 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 FOS YY2 ATP6V1E1 BID BCL2L13 PIR47030
GH22G017637 1.4 ENCODE dbSUPER 13.9 -10.2 -10216 3.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 ATP6V1E1 SLC25A18 BID BCL2L13 PIR47030
GH22G017594 1.1 ENCODE 17.4 +33.7 33710 1.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ATP6V1E1 TPTEP1 LOC101929372 PIR61133
GH22G017627 1.1 ENCODE 17 +0.0 21 2.6 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 FOS SP3 ATP6V1E1 HDHD5 ENSG00000236890 BCL2L13 PIR61133
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V1E1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1E1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143549 222 2001 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 FOS SP3 CEBPZ

Genomic Location for ATP6V1E1 Gene

Chromosome:
22
Start:
17,592,136 bp from pter
End:
17,628,822 bp from pter
Size:
36,687 bases
Orientation:
Minus strand

Genomic View for ATP6V1E1 Gene

Genes around ATP6V1E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1E1 Gene

Proteins for ATP6V1E1 Gene

  • Protein details for ATP6V1E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36543-VATE1_HUMAN
    Recommended name:
    V-type proton ATPase subunit E 1
    Protein Accession:
    P36543
    Secondary Accessions:
    • A8MUE4
    • A8MUN4

    Protein attributes for ATP6V1E1 Gene

    Size:
    226 amino acids
    Molecular mass:
    26145 Da
    Quaternary structure:
    • 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 RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with ALDOC. Interacts with RAB11B.

    Alternative splice isoforms for ATP6V1E1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1E1 Gene

Post-translational modifications for ATP6V1E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1E1 Gene

Antibody Products

No data available for DME Specific Peptides for ATP6V1E1 Gene

Domains & Families for ATP6V1E1 Gene

Gene Families for ATP6V1E1 Gene

HGNC:
IUPHAR :

Protein Domains for ATP6V1E1 Gene

Graphical View of Domain Structure for InterPro Entry

P36543

UniProtKB/Swiss-Prot:

VATE1_HUMAN :
  • Belongs to the V-ATPase E subunit family.
Family:
  • Belongs to the V-ATPase E subunit family.
genes like me logo Genes that share domains with ATP6V1E1: view

Function for ATP6V1E1 Gene

Molecular function for ATP6V1E1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11399750
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IEA --
GO:0016787 hydrolase activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
GO:0051117 ATPase binding IPI 20717956
genes like me logo Genes that share ontologies with ATP6V1E1: view
genes like me logo Genes that share phenotypes with ATP6V1E1: view

Animal Model Products

CRISPR Products

miRNA for ATP6V1E1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1E1 Gene

Localization for ATP6V1E1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1E1 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
plasma membrane 4
endosome 4
nucleus 3
mitochondrion 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ATP6V1E1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1E1 Gene

Pathways & Interactions for ATP6V1E1 Gene

genes like me logo Genes that share pathways with ATP6V1E1: view

Gene Ontology (GO) - Biological Process for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport TAS 8250920
genes like me logo Genes that share ontologies with ATP6V1E1: view

No data available for SIGNOR curated interactions for ATP6V1E1 Gene

Drugs & Compounds for ATP6V1E1 Gene

(6) Drugs for ATP6V1E1 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thonzonium bromide Approved Pharma surface active agent and inhibitor of V-ATPase proton transport 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1E1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) Tocris Compounds for ATP6V1E1 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8

(1) ApexBio Compounds for ATP6V1E1 Gene

Compound Action Cas Number
Thonzonium Bromide surface active agent and inhibitor of V-ATPase proton transport 553-08-2
genes like me logo Genes that share compounds with ATP6V1E1: view

Drug Products

Transcripts for ATP6V1E1 Gene

Unigene Clusters for ATP6V1E1 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1E1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for ATP6V1E1 Gene

GeneLoc Exon Structure for
ATP6V1E1
ECgene alternative splicing isoforms for
ATP6V1E1

Expression for ATP6V1E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V1E1 Gene

Protein differential expression in normal tissues from HIPED for ATP6V1E1 Gene

This gene is overexpressed in Brain (14.9) and Frontal cortex (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V1E1 Gene



Protein tissue co-expression partners for ATP6V1E1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1E1 Gene:

ATP6V1E1

SOURCE GeneReport for Unigene cluster for ATP6V1E1 Gene:

Hs.517338

mRNA Expression by UniProt/SwissProt for ATP6V1E1 Gene:

P36543-VATE1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP6V1E1 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.5)
  • Skin(3)
  • Heart(2.4)
  • Pancreas(2.4)
  • Kidney(2.3)
  • Spleen(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ATP6V1E1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1E1 Gene

Orthologs for ATP6V1E1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1E1 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 99 (a)
OneToMany
ATP6V1E1 34
  • 94.1 (n)
-- 35
  • 90 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP6V1E1 34 35
  • 92.18 (n)
mouse
(Mus musculus)
Mammalia Atp6v1e1 34 16 35
  • 91 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1e1 34
  • 90.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
ManyToMany
-- 35
  • 81 (a)
ManyToMany
-- 35
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1E1 34 35
  • 82.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1e1 34
  • 75.66 (n)
MGC75761 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-266k8.3 35
  • 74 (a)
ManyToMany
atp6v1e1b 34 35
  • 73.16 (n)
atp6v1e1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9254 34
fruit fly
(Drosophila melanogaster)
Insecta Vha26 34 35
  • 61.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002401 34
  • 60.47 (n)
worm
(Caenorhabditis elegans)
Secernentea vha-8 34 35
  • 58.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 34 35 37
  • 48.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02541g 34
  • 47.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-E2 34
  • 50.46 (n)
rice
(Oryza sativa)
Liliopsida Os05g0480700 34
  • 50.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5232 35
  • 48 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma4 34
  • 47.83 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07446 34
  • 47.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3363 34
Species where no ortholog for ATP6V1E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V1E1 Gene

ENSEMBL:
Gene Tree for ATP6V1E1 (if available)
TreeFam:
Gene Tree for ATP6V1E1 (if available)

Paralogs for ATP6V1E1 Gene

Paralogs for ATP6V1E1 Gene

(4) SIMAP similar genes for ATP6V1E1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ATP6V1E1 Gene

genes like me logo Genes that share paralogs with ATP6V1E1: view

Variants for ATP6V1E1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1E1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_036565 A colorectal cancer sample
rs1000000943 -- 17,611,940(+) ACTTA(A/C)TCCTA intron-variant
rs1000000965 -- 17,630,228(+) ACAAA(-/C)AAAAA intron-variant, upstream-variant-2KB
rs1000022629 -- 17,597,589(+) TTCTG(A/G)GGGCC intron-variant
rs1000030376 -- 17,612,270(+) TGAAT(A/G)TAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1E1 Gene

Variant ID Type Subtype PubMed ID
dgv1278e212 CNV loss 25503493
dgv2428n106 CNV deletion 24896259
dgv4464n100 CNV gain 25217958
dgv4465n100 CNV gain 25217958
esv2272803 CNV deletion 18987734
esv2667900 CNV deletion 23128226
esv3557907 CNV deletion 23714750
esv3568229 CNV loss 25503493
esv3647227 CNV loss 21293372
esv3647228 CNV loss 21293372
esv3893428 CNV loss 25118596
esv3893429 CNV gain 25118596
nsv1065055 CNV gain 25217958
nsv191259 CNV deletion 16902084
nsv3553 CNV deletion 18451855
nsv428385 CNV gain+loss 18775914
nsv510802 CNV deletion 20534489
nsv526826 CNV gain 19592680
nsv955472 CNV deletion 24416366
nsv9871 CNV loss 18304495

Variation tolerance for ATP6V1E1 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V1E1 Gene

Human Gene Mutation Database (HGMD)
ATP6V1E1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1E1 Gene

Disorders for ATP6V1E1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V1E1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V1E1

Genetic Association Database (GAD)
ATP6V1E1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1E1
genes like me logo Genes that share disorders with ATP6V1E1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1E1 Gene

Publications for ATP6V1E1 Gene

  1. The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. (PMID: 8004105) Baud V. … Lipinski M. (Hum. Mol. Genet. 1994) 2 3 4 64
  2. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PMID: 8250920) van Hille B. … Bilbe G. (Biochem. Biophys. Res. Commun. 1993) 2 3 4 64
  3. Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts. (PMID: 20717956) Oehlke O. … Roussa E. (J. Cell. Physiol. 2011) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A human gene, ATP6E1, encoding a testis-specific isoform of H(+)- ATPase subunit E. (PMID: 12036578) Imai-Senga Y. … Futai M. (Gene 2002) 3 4 64

Products for ATP6V1E1 Gene

Sources for ATP6V1E1 Gene

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