ATP6V1E1 ATPase H+ transporting V1 subunit E1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V1E1provided by HGNC
Official Full Name: ATPase H+ transporting V1 subunit E1provided by HGNC
Primary source: HGNC:HGNC:857
See related: Ensembl:ENSG00000131100 MIM:108746; AllianceGenome:HGNC:857
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: P31; Vma4; ATP6E; ARCL2C; ATP6E2; ATP6V1E
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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (17592136..17628822, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (18259880..18296566, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (18074902..18111588, complement)

Chromosome 22 - NC_000022.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Title: Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
expression of the V-ATPase V1E1 has prognostic significance in esophageal squamous cell carcinoma, and is closely linked to migration, invasion, and aerobic glycolysis in esophageal cancer cells
Title: Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma.
We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities.
Title: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Low-grade PanIN lesions with typical columnar morphology displayed diffuse labeling of the V1E subunit. In advanced lesions it was found along the basolateral membranes.
Title: Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions.
The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
Title: A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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.
HuR shows increased binding to some V-ATPase mRNAs during ATP depletion; siRNA-mediated knockdown of HuR results in diminished V-ATPase expression
Title: HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletion.
Rat vacuolar H(+)ATPase associates with NHE-RF (Na(+)/H(+) exchanger regulatory factor); the E subunit was co-immunoprecipitated from rat kidney cytosol with NHE-RF antibodies.
Title: The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells.
The mouse V-ATPase E may participate in the regulation of the mSos1-dependent Rac1 signaling pathway involved in growth factor receptor-mediated cell growth control.
Title: The Sos1-Rac1 signaling. Possible involvement of a vacuolar H(+)-ATPase E subunit.

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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

Associated conditions

Description	Tests
Autosomal recessive cutis laxa type 2C MedGen: C4479387 OMIM: 617402 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-26) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-04-26) ClinGen Genome Curation Page

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15321 (e-PCR)
- UniSTS:78089

SHGC-36174 (e-PCR)
- UniSTS:60176

RH1695 (e-PCR)
- UniSTS:83780

SHGC-143563 (e-PCR)
- UniSTS:171956

GDB:452617 (e-PCR)
- UniSTS:157391

GDB:452644 (e-PCR)
- UniSTS:157406

G43351 (e-PCR)
- UniSTS:94946

RH79089 (e-PCR)
- UniSTS:15604

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
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	TAS Traceable Author Statement more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle lumen acidification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in microvillus	IEA Inferred from Electronic Annotation more info
part_of proton-transporting two-sector ATPase complex	TAS Traceable Author Statement more info	PubMed
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: V-type proton ATPase subunit E 1

Names: ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1; H(+)-transporting two-sector ATPase, 31kDa subunit; H+-transporting ATP synthase chain E, vacuolar; V-ATPase 31 kDa subunit; V-ATPase subunit E 1; V-ATPase, subunit E; vacuolar proton pump subunit E 1

NP_001034455.1

EC 7.1.2.2

NP_001034456.1

EC 7.1.2.2

NP_001687.1

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.

Genomic

NG_009214.2 RefSeqGene

Range

5074..41687

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001039366.1 → NP_001034455.1 V-type proton ATPase subunit E 1 isoform b

See identical proteins and their annotated locations for NP_001034455.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC006285, AC007666, BQ888820, CK005516

Consensus CDS

CCDS42977.1

UniProtKB/Swiss-Prot

P36543

Related

ENSP00000382696.2, ENST00000399798.6

Conserved Domains (1) summary

pfam01991
Location:7 → 194

vATP-synt_E; ATP synthase (E/31 kDa) subunit
NM_001039367.1 → NP_001034456.1 V-type proton ATPase subunit E 1 isoform c

See identical proteins and their annotated locations for NP_001034456.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.

Source sequence(s)

AC006285, AC007666, AW406069, BE735148, BI597419, CK005516

Consensus CDS

CCDS42978.1

UniProtKB/Swiss-Prot

P36543

Related

ENSP00000382694.2, ENST00000399796.6

Conserved Domains (1) summary

pfam01991
Location:18 → 186

vATP-synt_E; ATP synthase (E/31 kDa) subunit
NM_001696.4 → NP_001687.1 V-type proton ATPase subunit E 1 isoform a

See identical proteins and their annotated locations for NP_001687.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC006285, AC007666, KF457350

Consensus CDS

CCDS13745.1

UniProtKB/Swiss-Prot

A8MUE4, A8MUN4, P36543

UniProtKB/TrEMBL

Q53Y06

Related

ENSP00000253413.5, ENST00000253413.10

Conserved Domains (1) summary

pfam01991
Location:18 → 216

vATP-synt_E; ATP synthase (E/31 kDa) subunit