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    ATP6V1E1 ATPase H+ transporting V1 subunit E1 [ Homo sapiens (human) ]

    Gene ID: 529, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ATP6V1E1provided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit E1provided by HGNC
    Primary source
    HGNC:HGNC:857
    See related
    Ensembl:ENSG00000131100 MIM:108746; AllianceGenome:HGNC:857
    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; ARCL2C; 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]
    Expression
    Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP6V1E1 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17592136..17628822, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18259880..18296566, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18074902..18111588, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18048734-18049485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18049486-18050236 Neighboring gene solute carrier family 25 member 18 Neighboring gene uncharacterized LOC101929372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18623 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18117540-18117771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18119788-18120660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18120661-18121532 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18121533-18122405 Neighboring gene uncharacterized LOC124905160 Neighboring gene BCL2 like 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18628 Neighboring gene Sharpr-MPRA regulatory region 7571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18227061-18227681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18232941-18233485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18236057-18236556 Neighboring gene BH3 interacting domain death agonist Neighboring gene microRNA 3198-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney. Hemken P, et al. J Biol Chem, 1992 May 15. PMID 1533641
    2. The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. Baud V, et al. Hum Mol Genet, 1994 Feb. PMID 8004105
    3. Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma. Son SW, et al. Oncotarget, 2016 Aug 2. PMID 27384996, Free PMC Article
    4. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Van Damme T, et al. Am J Hum Genet, 2017 Feb 2. PMID 28065471, Free PMC Article
    5. Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions. Sreekumar BK, et al. Pancreas, 2014 Nov. PMID 25072283, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
      Title: Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
    2. expression of the V-ATPase V1E1 has prognostic significance in esophageal squamous cell carcinoma, and is closely linked to migration, invasion, and aerobic glycolysis in esophageal cancer cells
      Title: Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma.
    3. We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities.
      Title: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
    4. Low-grade PanIN lesions with typical columnar morphology displayed diffuse labeling of the V1E subunit. In advanced lesions it was found along the basolateral membranes.
      Title: Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions.
    5. The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
      Title: A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
    6. 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.
    7. 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.
    8. 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.
    9. 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

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive cutis laxa type 2C
    MedGen: C4479387 OMIM: 617402 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-26)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-26)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proton transmembrane transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of proton-transporting two-sector ATPase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of vacuolar proton-transporting V-type ATPase, V1 domain IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    V-type proton ATPase subunit E 1
    Names
    ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
    H(+)-transporting two-sector ATPase, 31kDa subunit
    H+-transporting ATP synthase chain E, vacuolar
    V-ATPase 31 kDa subunit
    V-ATPase subunit E 1
    V-ATPase, subunit E
    vacuolar proton pump subunit E 1
    NP_001034455.1
    NP_001034456.1
    NP_001687.1

    NCBI Reference Sequences (RefSeq)

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    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_009214.2 RefSeqGene

      Range
      5074..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

      See identical proteins and their annotated locations for NP_001034455.1

      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)
      AC006285, AC007666, BQ888820, CK005516
      Consensus CDS
      CCDS42977.1
      UniProtKB/Swiss-Prot
      P36543
      Related
      ENSP00000382696.2, ENST00000399798.6
      Conserved Domains (1) summary
      pfam01991
      Location:7 → 194
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

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

      See identical proteins and their annotated locations for NP_001034456.1

      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)
      AC006285, AC007666, AW406069, BE735148, BI597419, CK005516
      Consensus CDS
      CCDS42978.1
      UniProtKB/Swiss-Prot
      P36543
      Related
      ENSP00000382694.2, ENST00000399796.6
      Conserved Domains (1) summary
      pfam01991
      Location:18 → 186
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    3. NM_001696.4 → NP_001687.1  V-type proton ATPase subunit E 1 isoform a

      See identical proteins and their annotated locations for NP_001687.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC006285, AC007666, KF457350
      Consensus CDS
      CCDS13745.1
      UniProtKB/Swiss-Prot
      A8MUE4, A8MUN4, P36543
      UniProtKB/TrEMBL
      Q53Y06
      Related
      ENSP00000253413.5, ENST00000253413.10
      Conserved Domains (1) summary
      pfam01991
      Location:18 → 216
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17592136..17628822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      18259880..18296566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36543.1 GenPept UniProtKB/Swiss-Prot:P36543

    Gene LinkOut

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

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