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

Gene ID: 529, updated on 5-Mar-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
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Genomic context

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Location:
22q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17592136..17628822, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18259880..18296566, complement)
105.20220307 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
  • 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. 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
  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. 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
  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 (77) 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.
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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
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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_2023_10

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

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