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    ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 [ Homo sapiens ]

    Gene ID: 529, updated on 19-May-2012
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    Summary

    Official Symbol
    ATP6V1E1provided by HGNC
    Official Full Name
    ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1provided by HGNC
    Primary source
    HGNC:857
    See related
    Ensembl:ENSG00000131100; HPRD:00163; MIM:108746; Vega:OTTHUMG00000059320
    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
    P31; Vma4; ATP6E; ATP6E2; ATP6V1E
    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, 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]
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    Genomic context

    Location :
    22q11.1
    Sequence :
    Chromosome: 22; NC_000022.10 (18074902..18111588, complement)
    See ATP6V1E1 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene cat eye syndrome chromosome region, candidate 2 Neighboring gene DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 6 Neighboring gene solute carrier family 25 (glutamate carrier), member 18 Neighboring gene BCL2-like 13 (apoptosis facilitator) Neighboring gene BH3 interacting domain death agonist Neighboring gene microRNA 3198-1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. Adachi K, et al. Cell, 2007 Jul 27. PMID 17662945.
    5. Proteomic identification of the TRAF6 regulation of vacuolar ATPase for osteoclast function. Ryu J, et al. Proteomics, 2005 Nov. PMID 16196101.

    See all (32) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data demonstrate the physiological significance of the interaction between the E and H subunits of V-ATPase and extend previous studies on the arrangement of subunits on the peripheral stalk of V-ATPase.
      Title: The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function.
    2. HuR shows increased binding to some V-ATPase mRNAs during ATP depletion; siRNA-mediated knockdown of HuR results in diminished V-ATPase expression
      Title: HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletion.
    3. Rat vacuolar H(+)ATPase associates with NHE-RF (Na(+)/H(+) exchanger regulatory factor); the E subunit was co-immunoprecipitated from rat kidney cytosol with NHE-RF antibodies.
      Title: The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells.
    4. The mouse V-ATPase E may participate in the regulation of the mSos1-dependent Rac1 signaling pathway involved in growth factor receptor-mediated cell growth control.
      Title: The Sos1-Rac1 signaling. Possible involvement of a vacuolar H(+)-ATPase E subunit.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P36543 P04075 ALDOA    HPRD  PubMed  
    P36543 P05062 ALDOB    HPRD  PubMed  
    P36543 O15342 ATP6V0E1    HPRD  PubMed  
    P36543 O75348 ATP6V1G1    HPRD  PubMed  
    P36543 O95670 ATP6V1G2    HPRD  PubMed  
    P36543 Q9UI12 ATP6V1H    HPRD  PubMed  
    P36543 O14745 SLC9A3R1    HPRD  PubMed  
    P36543 Q07889 SOS1    HPRD  PubMed  
    P36543 Q9Y4K3 TRAF6    HPRD  PubMed  
    P36543 P12956 XRCC6    HPRD  PubMed  
    BioGRID:107012 BioGRID:106728 ALDOA    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:106730 ALDOB    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:106731 ALDOC    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:114922 ATP6V1G1    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:107017 ATP6V1G2    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:119635 ATP6V1H    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107012 BioGRID:116794 MESDC2    BioGRID  PubMed Two-hybrid 
    BioGRID:107012 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107012 BioGRID:108822 XRCC6    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ATP6V1E1 gene: The ATP6V1E1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, S.pombe, , N.crassa, A.thaliana, rice, and P.falciparum.
    • Map Viewer (Mouse, Rat)

    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)....
    • 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...
    • 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...
    • 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, ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydrogen-exporting ATPase activity, phosphorylative mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    ATP hydrolysis coupled proton transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    		  
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferrin transport TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton-transporting two-sector ATPase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    proton-transporting two-sector ATPase complex, catalytic domain IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    V-type proton ATPase subunit E 1
    Names
    V-type proton ATPase subunit E 1
    V-ATPase, subunit E
    V-ATPase subunit E 1
    V-ATPase 31 kDa subunit
    vacuolar proton pump subunit E 1
    H+-transporting ATP synthase chain E, vacuolar
    H(+)-transporting two-sector ATPase, 31kDa subunit
    NP_001034455.1
    NP_001034456.1
    NP_001687.1
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    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.

    Genomic

    1. NG_009214.1 RefSeqGene

      Range
      5001..41687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039366.1 → NP_001034455.1  V-type proton ATPase subunit E 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC004019, AC006285, AC007666, BQ888820, CK005516
      Consensus CDS
      CCDS42977.1
      UniProtKB/Swiss-Prot
      P36543
      Related
      ENSP00000382696, OTTHUMP00000214152, ENST00000399798, OTTHUMT00000353463
      Conserved Domains (2) summary
      pfam01991
      Location:7 – 194
      Blast Score: 352
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
      cl07975
      Location:51 – 196
      Blast Score: 97
      ATP-synt_B; ATP synthase B/B' CF(0)

    2. NM_001039367.1 → NP_001034456.1  V-type proton ATPase subunit E 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AC004019, AC006285, AW406069, BE735148, BI597419, CK005516
      Consensus CDS
      CCDS42978.1
      UniProtKB/TrEMBL
      A8MUN4
      Related
      ENSP00000382694, OTTHUMP00000214153, ENST00000399796, OTTHUMT00000353464
      Conserved Domains (2) summary
      pfam01991
      Location:18 – 186
      Blast Score: 304
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
      cl07975
      Location:73 – 188
      Blast Score: 101
      ATP-synt_B; ATP synthase B/B' CF(0)

    3. NM_001696.3 → NP_001687.1  V-type proton ATPase subunit E 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC004019, AC006285, AC007666, CK005516
      Consensus CDS
      CCDS13745.1
      UniProtKB/Swiss-Prot
      P36543
      UniProtKB/TrEMBL
      Q53Y06
      Related
      ENSP00000253413, OTTHUMP00000065606, ENST00000253413, OTTHUMT00000131790
      Conserved Domains (2) summary
      pfam01991
      Location:18 – 216
      Blast Score: 346
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
      cl07975
      Location:73 – 218
      Blast Score: 104
      ATP-synt_B; ATP synthase B/B' CF(0)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      18074902..18111588, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      1890227..1926475, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004019.20 (259924..260408) None
    genomic AC006285.13 (15507..16730) None
    genomic AC007666.12 (104414..139387) None
    genomic CH471193.1 EAW57762.1
      EAW57763.1
      EAW57764.1
      EAW57765.1
    mRNA AI565049.1 None
    mRNA AK294623.1 BAG57804.1
    mRNA AK312394.1 BAG35311.1
    mRNA AK315941.1 BAH14312.1
    mRNA AW406069.1 None
    mRNA BC004443.1 AAH04443.1
    mRNA BE735148.1 None
    mRNA BI546032.1 None
    mRNA BI597419.1 None
    mRNA BQ888820.1 None
    mRNA BT007128.1 AAP35792.1
    mRNA CK005516.1 None
    mRNA CR456385.1 CAG30271.1
    mRNA X71491.1 CAA50592.1
    mRNA X76228.1 CAA53814.1
    other-genetic CU012943.1 CAK54374.1
    other-genetic CU013231.1 CAK54673.1
    other-genetic EU831478.1 ACE87165.1
    other-genetic EU831565.1 ACE86484.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36543.1 GenPept UniProtKB/Swiss-Prot:P36543
    Q53Y06 GenPept UniProtKB/TrEMBL:Q53Y06
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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