ATP6V1E1 (ATPase H+ transporting V1 subunit E1)

2018-07-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
ARCL2C,ATP6E,ATP6E2,ATP6V1E,P31,Vma4
FUSION GENES

Other Information

Locus ID:

NCBI: 529
MIM: 108746
HGNC: 857
Ensembl: ENSG00000131100

Variants:

dbSNP: 529
ClinVar: 529
TCGA: ENSG00000131100
COSMIC: ATP6V1E1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131100ENST00000253413P36543
ENSG00000131100ENST00000253413Q53Y06
ENSG00000131100ENST00000399796P36543
ENSG00000131100ENST00000399798P36543
ENSG00000131100ENST00000413576C9J8H1

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
107481652000The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells.40
161550062005HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletion.16
121634842002The 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.15
280654712017Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.15
115609192001The Sos1-Rac1 signaling. Possible involvement of a vacuolar H(+)-ATPase E subunit.6
223958672012A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.6
250722832014Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions.5
273849962016Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma.5

Citation

Dessen P

ATP6V1E1 (ATPase H+ transporting V1 subunit E1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57563/atp6v1e1