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Aliases for ATP6V1E1 Gene

Aliases for ATP6V1E1 Gene

  • 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-ATPase, Subunit E 3
  • ATP6V1E 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, Lysosomal 31kDa, V1 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V1E1 include cat eye syndrome. Among its related pathways are Immune System and Signaling by GPCR. 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1E1 Gene

Genomics for ATP6V1E1 Gene

Regulatory Elements for ATP6V1E1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ATP6V1E1 Gene at MOPED

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

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:0016747 transferase activity, transferring acyl groups other than amino-acyl groups 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

Phenotypes for ATP6V1E1 Gene

GenomeRNAi human phenotypes for ATP6V1E1:
genes like me logo Genes that share phenotypes with ATP6V1E1: view

Animal Model Products

CRISPR Products

miRNA for ATP6V1E1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1E1

In Situ Assay Products

Flow Cytometry Products

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

Localization for ATP6V1E1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1E1 Gene COMPARTMENTS Subcellular localization image for ATP6V1E1 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 4
endosome 4
plasma membrane 4
nucleus 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
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:0006879 cellular iron ion homeostasis TAS --
GO:0008152 metabolic process 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

(2) Drugs for ATP6V1E1 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V1E1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2
genes like me logo Genes that share compounds with ATP6V1E1: view

Transcripts for ATP6V1E1 Gene

Unigene Clusters for ATP6V1E1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1E1

Flow Cytometry 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 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, MOPED, and MaxQB for ATP6V1E1 Gene



SOURCE GeneReport for Unigene cluster for ATP6V1E1 Gene Hs.517338

mRNA Expression by UniProt/SwissProt for ATP6V1E1 Gene

P36543-VATE1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6V1E1: view

Protein tissue co-expression partners for ATP6V1E1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ATP6V1E1 35
  • 92.18 (n)
  • 97.79 (a)
ATP6V1E1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1E1 35
  • 94.1 (n)
  • 99.12 (a)
-- 36
  • 90 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp6v1e1 35
  • 91 (n)
  • 98.67 (a)
Atp6v1e1 16
Atp6v1e1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1E1 35
  • 99.71 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Atp6v1e1 35
  • 90.56 (n)
  • 98.67 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1E1 35
  • 82.15 (n)
  • 88.05 (a)
ATP6V1E1 36
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1e1 35
  • 75.66 (n)
  • 85.4 (a)
MGC75761 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1e1 35
atp6v1e1b 35
  • 73.16 (n)
  • 77.43 (a)
atp6v1e1b 36
  • 77 (a)
ManyToMany
si:ch211-266k8.3 36
  • 74 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9254 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002401 35
  • 60.47 (n)
  • 62.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha26 35
  • 61.8 (n)
  • 63.27 (a)
Vha26 36
  • 63 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-8 35
  • 58.85 (n)
  • 57.52 (a)
vha-8 36
  • 58 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02541g 35
  • 47.32 (n)
  • 36.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 35
  • 48.22 (n)
  • 37.21 (a)
VMA4 36
  • 32 (a)
OneToMany
VMA4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-E2 35
  • 50.46 (n)
  • 39.35 (a)
rice
(Oryza sativa)
Liliopsida Os05g0480700 35
  • 50.93 (n)
  • 43.46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3363 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07446 35
  • 47.7 (n)
  • 40.8 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma4 35
  • 47.83 (n)
  • 37.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5232 36
  • 48 (a)
OneToMany
Species with no ortholog for ATP6V1E1:
  • 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 MAF
rs3532 -- 17,592,497(-) TGGAA(A/G/T)GCTTC utr-variant-3-prime
rs7414 -- 17,592,287(+) TGGAA(A/G)GAGTG utr-variant-3-prime
rs15391 -- 17,592,260(-) TGTTA(C/T)CTGTT utr-variant-3-prime
rs714504 -- 17,600,825(+) GCAAA(C/T)TTGAC intron-variant
rs718296 -- 17,600,971(+) AAAAG(G/T)GTGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526826 CNV Gain 19592680
nsv428385 CNV Gain+Loss 18775914
nsv9871 CNV Loss 18304495
nsv510802 CNV Loss 20534489
nsv914150 CNV Loss 21882294
nsv3553 CNV Loss 18451855
nsv914151 CNV Gain 21882294
esv2667900 CNV Deletion 23128226
esv2272803 CNV Deletion 18987734
nsv191259 CNV Loss 16902084

Variation tolerance for ATP6V1E1 Gene

Residual Variation Intolerance Score: 62.41% 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

HapMap Linkage Disequilibrium report
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

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. Biomarker discovery: a proteomic approach for brain cancer profiling. (PMID: 17233837) Khalil A.A. … James P. (Cancer Sci. 2007) 23 67
  2. Involvement of a novel Q-SNARE, D12, in quality control of the endomembrane system. (PMID: 16354670) Okumura A.J. … Wada I. (J. Biol. Chem. 2006) 23 67
  3. Vacuolar-type H+-ATPase E subunit is required for embryogenesis and yolk transfer in Caenorhabditis elegans. (PMID: 12853134) Choi K.Y. … Ahnn J. (Gene 2003) 23 67
  4. In vivo treatment with granulocyte colony-stimulating factor does not delay apoptosis in human neutrophils by increasing the expression of the vacuolar proton ATPase. (PMID: 11813826) Zimbelman J. … Ambruso D.R. (J. Investig. Med. 2002) 23 67
  5. 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 67

Products for ATP6V1E1 Gene

Sources for ATP6V1E1 Gene

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