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ATP6V1E2 ATPase H+ transporting V1 subunit E2 [ Homo sapiens (human) ]

Gene ID: 90423, updated on 2-Nov-2024

Summary

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Official Symbol
ATP6V1E2provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit E2provided by HGNC
Primary source
HGNC:HGNC:18125
See related
Ensembl:ENSG00000250565 MIM:617385; AllianceGenome:HGNC:18125
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VMA4; ATP6E1; ATP6EL2; ATP6V1EL2
Summary
Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in monoatomic ion transport. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in cytosol. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 6.7), thyroid (RPKM 1.5) and 20 other tissues See more
Orthologs
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Genomic context

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See ATP6V1E2 in Genome Data Viewer
Location:
2p21; 2p16-p12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46511847..46542577, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46516901..46547610, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46738986..46769716, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15704 Neighboring gene transmembrane protein 247 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr2:46717178-46717710 and GRCh37_chr2:46717711-46718243 Neighboring gene uncharacterized LOC124906002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15710 Neighboring gene ras homolog family member Q Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15714 Neighboring gene RHOQ antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:46813126-46813309 Neighboring gene uncharacterized LOC124906003 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F

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. A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E. Imai-Senga Y, et al. Gene, 2002 May 1. PMID 12036578
  2. The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells. Breton S, et al. J Biol Chem, 2000 Jun 16. PMID 10748165
  3. The vacuolar (H+)-ATPases--nature's most versatile proton pumps. Nishi T, et al. Nat Rev Mol Cell Biol, 2002 Feb. PMID 11836511
  4. Proton translocation driven by ATP hydrolysis in V-ATPases. Kawasaki-Nishi S, et al. FEBS Lett, 2003 Jun 12. PMID 12788495
  5. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. Smith AN, et al. Mol Cell, 2003 Oct. PMID 14580332

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC9341, FLJ41757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of macroautophagy NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of proton-transporting two-sector ATPase complex, catalytic domain IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
V-type proton ATPase subunit E 2
Names
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
V-ATPase subunit E 2
testis secretory sperm-binding protein Li 235P
vacuolar proton pump subunit E 2
vacuolar-type proton-translocating ATPase subunit E1

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.

mRNA and Protein(s)

  1. NM_001318063.2 → NP_001304992.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682, AF086285, AL541274, BC008981, HY189673
    Consensus CDS
    CCDS1826.1
    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Related
    ENSP00000428141.1, ENST00000522587.6
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  2. NM_001371281.1 → NP_001358210.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682
    Consensus CDS
    CCDS1826.1
    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  3. NM_001371282.1 → NP_001358211.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682
    Consensus CDS
    CCDS1826.1
    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  4. NM_001371283.1 → NP_001358212.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682
    Consensus CDS
    CCDS1826.1
    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    46511847..46542577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446257.1 → XP_047302213.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  2. XM_017005225.2 → XP_016860714.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Related
    ENSP00000304891.4, ENST00000306448.4
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  3. XM_011533149.4 → XP_011531451.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531451.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  4. XM_011533151.4 → XP_011531453.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531453.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  5. XM_011533148.4 → XP_011531450.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531450.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

  6. XM_047446255.1 → XP_047302211.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  7. XM_047446256.1 → XP_047302212.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  8. XM_011533152.4 → XP_011531454.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531454.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (1) summary
    pfam01991
    Location:18 → 216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    46516901..46547610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344451.1 → XP_054200426.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  2. XM_054344446.1 → XP_054200421.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  3. XM_054344445.1 → XP_054200420.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  4. XM_054344449.1 → XP_054200424.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  5. XM_054344444.1 → XP_054200419.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  6. XM_054344447.1 → XP_054200422.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  7. XM_054344450.1 → XP_054200425.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

  8. XM_054344448.1 → XP_054200423.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080653.3: Suppressed sequence

    Description
    NM_080653.3: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96A05.1 GenPept UniProtKB/Swiss-Prot:Q96A05

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