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

Gene ID: 8992, updated on 7-Jun-2020

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
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

Genomic context

See ATP6V0E1 in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (172983771..173035445)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172410763..172461900)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100268168 Neighboring gene ribosomal protein L26 like 1 Neighboring gene Sharpr-MPRA regulatory region 5956 Neighboring gene inorganic pyrophosphatase 1 pseudogene Neighboring gene small nucleolar RNA, H/ACA box 74B Neighboring gene CREB3 regulatory factor Neighboring gene cell division cycle 42 pseudogene 5 Neighboring gene BCL2 interacting protein 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase coupled ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATPase activity, rotational mechanism IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuolar acidification ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

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)

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_003945.4NP_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
    O15342
    Related
    ENSP00000429690.1, ENST00000519374.6
    Conserved Domains (1) summary
    pfam05493
    Location:967
    ATP_synt_H; ATP synthase subunit H

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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