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    ATP6V0E1 ATPase H+ transporting V0 subunit e1 [ Homo sapiens (human) ]

    Gene ID: 8992, updated on 10-Dec-2024

    Summary

    Official Symbol
    ATP6V0E1provided by HGNC
    Official Full Name
    ATPase H+ transporting V0 subunit e1provided by HGNC
    Primary source
    HGNC:HGNC:863
    See related
    Ensembl:ENSG00000113732 MIM:603931; AllianceGenome:HGNC:863
    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
    M9.2; ATP6H; Vma21; Vma21p; ATP6V0E
    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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 131.7), kidney (RPKM 118.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ATP6V0E1 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (172983771..173035445)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (173523874..173575550)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172410774..172462448)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:172382074-172383273 Neighboring gene RPL26L1 antisense RNA 1 Neighboring gene ribosomal protein L26 like 1 Neighboring gene Sharpr-MPRA regulatory region 5956 Neighboring gene inorganic pyrophosphatase 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 12761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172444454-172444997 Neighboring gene Sharpr-MPRA regulatory region 4768 Neighboring gene small nucleolar RNA, H/ACA box 74B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16635 Neighboring gene CREB3 regulatory factor Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172508379-172508618 Neighboring gene CDC42 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172555784-172556284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172571727-172572255 Neighboring gene BCL2 interacting protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in proton transmembrane transport PubMed 
    involved_in regulation of macroautophagy PubMed 
    involved_in transmembrane transport  
    involved_in vacuolar acidification  
    Component Evidence Code Pubs
    located_in endosome membrane  
    located_in lysosomal membrane  
    located_in phagocytic vesicle membrane  
    part_of proton-transporting V-type ATPase, V0 domain  

    General protein information

    Preferred Names
    V-type proton ATPase subunit e 1
    Names
    ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1
    H(+)-transporting two-sector ATPase, subunit H
    V-ATPase 9.2 kDa membrane accessory protein
    V-ATPase H subunit
    V-ATPase M9.2 subunit
    V-ATPase subunit e 1
    vacuolar ATP synthase subunit H
    vacuolar proton pump H subunit
    vacuolar proton pump subunit e 1
    vacuolar proton-ATPase subunit M9.2
    NP_003936.1

    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.

    mRNA and Protein(s)

    1. NM_003945.4 → NP_003936.1  V-type proton ATPase subunit e 1

      See identical proteins and their annotated locations for NP_003936.1

      Status: REVIEWED

      Source sequence(s)
      AC008429, AI198465, BF691381, Y15286
      Consensus CDS
      CCDS4383.1
      UniProtKB/Swiss-Prot
      B2R557, D3DQM1, O15342, Q6IBE8
      UniProtKB/TrEMBL
      J3KN48
      Related
      ENSP00000429690.1, ENST00000519374.6
      Conserved Domains (1) summary
      pfam05493
      Location:9 → 67
      ATP_synt_H; ATP synthase subunit H

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      172983771..173035445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      173523874..173575550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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