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ATP6V0E1 ATPase H+ transporting V0 subunit e1 [ Homo sapiens (human) ]

Gene ID: 8992, updated on 17-Jun-2019

Summary

Official Symbol
ATP6V0E1provided by HGNC
Official Full Name
ATPase H+ transporting V0 subunit e1provided by HGNC
Primary source
HGNC:HGNC:863
See related
Ensembl:ENSG00000113732 MIM:603931
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M9.2; ATP6H; Vma21; Vma21p; ATP6V0E
Summary
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 encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 131.7), kidney (RPKM 118.1) and 25 other tissues See more
Orthologs

Genomic context

See ATP6V0E1 in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (172983771..173035445)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172410763..172461900)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100268168 Neighboring gene ribosomal protein L26 like 1 Neighboring gene Sharpr-MPRA regulatory region 5956 Neighboring gene pyrophosphatase (inorganic) 1 pseudogene Neighboring gene small nucleolar RNA, H/ACA box 74B Neighboring gene CREB3 regulatory factor Neighboring gene cell division cycle 42 pseudogene 5 Neighboring gene BCL2 interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
    Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Collecting duct acid secretion, conserved biosystem (from KEGG)
    Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
    Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • ROS, RNS production in phagocytes, organism-specific biosystem (from REACTOME)
    ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
    Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
    V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
    V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase coupled ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATPase activity, rotational mechanism IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuolar acidification ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit e 1
Names
ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1
H(+)-transporting two-sector ATPase, subunit H
V-ATPase 9.2 kDa membrane accessory protein
V-ATPase H subunit
V-ATPase M9.2 subunit
V-ATPase subunit e 1
vacuolar ATP synthase subunit H
vacuolar proton pump H subunit
vacuolar proton pump subunit e 1
vacuolar proton-ATPase subunit M9.2
NP_003936.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003945.4NP_003936.1  V-type proton ATPase subunit e 1

    See identical proteins and their annotated locations for NP_003936.1

    Status: REVIEWED

    Source sequence(s)
    AC008429, AI198465, BF691381, Y15286
    Consensus CDS
    CCDS4383.1
    UniProtKB/Swiss-Prot
    O15342
    Related
    ENSP00000429690.1, ENST00000519374.6
    Conserved Domains (1) summary
    pfam05493
    Location:967
    ATP_synt_H; ATP synthase subunit H

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    172983771..173035445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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