Identity
HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
ARCL2C,ATP6E,ATP6E2,ATP6V1E,P31,Vma4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 529
MIM: 108746
HGNC: 857
Ensembl: ENSG00000131100
Variants:
dbSNP: 529
ClinVar: 529
TCGA: ENSG00000131100
COSMIC: ATP6V1E1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34143769 | 2021 | Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. | 0 |
| 34143769 | 2021 | Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. | 0 |
| 28065471 | 2017 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. | 38 |
| 28065471 | 2017 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. | 38 |
| 27384996 | 2016 | Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma. | 8 |
| 27384996 | 2016 | Prognostic significance and function of the vacuolar H+-ATPase subunit V1E1 in esophageal squamous cell carcinoma. | 8 |
| 25072283 | 2014 | Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions. | 5 |
| 25072283 | 2014 | Polarization of the vacuolar adenosine triphosphatase delineates a transition to high-grade pancreatic intraepithelial neoplasm lesions. | 5 |
| 22395867 | 2012 | A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. | 11 |
| 22395867 | 2012 | A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. | 11 |
| 16155006 | 2005 | HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletion. | 0 |
| 16155006 | 2005 | HuR stabilizes vacuolar H+-translocating ATPase mRNA during cellular energy depletion. | 0 |
| 12163484 | 2002 | 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. | 18 |
| 12163484 | 2002 | 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. | 18 |
| 11560919 | 2001 | The Sos1-Rac1 signaling. Possible involvement of a vacuolar H(+)-ATPase E subunit. | 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-(atpase-h+-transporting-v1-subunit-e1)
