Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1e1provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit E1provided by MGI
Primary source: MGI:MGI:894326
See related: Ensembl:ENSMUSG00000019210 AllianceGenome:MGI:894326
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: p31; Vma4; Atp6e; Atp6e2; Atp6v1e; D6Ertd385e; 2410029D23Rik
Summary: Enables proton-transporting ATPase activity, rotational mechanism. Acts upstream of or within proton transmembrane transport. Located in several cellular components, including apical plasma membrane; endosome; and microvillus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIC. Orthologous to human ATP6V1E1 (ATPase H+ transporting V1 subunit E1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cortex adult (RPKM 139.1), frontal lobe adult (RPKM 137.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F1; 6 57.01 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (120772205..120799659, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (120795244..120822698, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In pancreatic intraepithelial lesions, V1E subunits localized to the basolateral domain in specific regions. Blocking the v-ATPase disrupted Wnt/beta-catenin signaling in primary PanIN cells.
Title: Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions.
These results suggest that subunit E, especially its amino-terminal domain, plays a pertinent role in the assembly of V-ATPase subunits in vacuolar membranes from mice and yeast.
Title: Defective assembly of a hybrid vacuolar H(+)-ATPase containing the mouse testis-specific E1 isoform and yeast subunits.
These results suggest that the B1 vacuolar H(+)-ATPase subunit is necessary for the furosemide-induced acute urinary acidification.
Title: The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127114 (e-PCR)
- UniSTS:167485

AA818483 (e-PCR)
- UniSTS:249716

Atp6v1e1 (e-PCR), detects polymorphism
- UniSTS:527262

Atp6v1e1 (e-PCR), detects polymorphism
- UniSTS:527054

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
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
enables proton-transporting ATPase activity, rotational mechanism	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proton transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of proton-transporting two-sector ATPase complex, catalytic domain	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: V-type proton ATPase subunit E 1

Names: ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E; H(+)-ATPase E-like protein; V-ATPase 31 kDa subunit; V-ATPase subunit E 1; VATPase, H+ transporting, lysosomal V1 subunit E1; vacuolar proton pump subunit E 1

NP_031536.2

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.