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

    Gene ID: 90423, updated on 10-Dec-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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 6.7), thyroid (RPKM 1.5) and 20 other tissues See more
    Orthologs
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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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    NEW Try the new Transcript table

    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

    Gene LinkOut

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

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