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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcriptomic and functional studies reveal miR-431-5p as a tumour suppressor in pancreatic ductal adenocarcinoma cells.
Title: Transcriptomic and functional studies reveal miR-431-5p as a tumour suppressor in pancreatic ductal adenocarcinoma cells.
there is an important role for physical association between aldolase and the A, B and E subunits of V-ATPase in the regulation of the proton pump
Title: Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump.
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.

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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

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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Markers

L28302 (e-PCR)
- UniSTS:66060

STS-H56007 (e-PCR)
- UniSTS:49353

G61995 (e-PCR)
- UniSTS:139214

RH47638 (e-PCR)
- UniSTS:67316

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase-coupled ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in proton transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar acidification	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endosome membrane	TAS Traceable Author Statement more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
part_of proton-transporting V-type ATPase, V0 domain	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 7.1.2.2

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.