Identity
HGNC
LOCATION
3q13.31
LOCUSID
ALIAS
ARCL2D,ATP6A1,ATP6V1A1,DEE93,HO68,IECEE3,VA68,VPP2,Vma1
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: 523
MIM: 607027
HGNC: 851
Ensembl: ENSG00000114573
Variants:
dbSNP: 523
ClinVar: 523
TCGA: ENSG00000114573
COSMIC: ATP6V1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114573 | ENST00000273398 | P38606 |
| ENSG00000114573 | ENST00000470455 | F8WDJ3 |
| ENSG00000114573 | ENST00000475322 | C9JVW8 |
| ENSG00000114573 | ENST00000496747 | C9JA17 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37574426 | 2024 | ATP6V1A variants are associated with childhood epilepsy with favorable outcome. | 0 |
| 37574426 | 2024 | ATP6V1A variants are associated with childhood epilepsy with favorable outcome. | 0 |
| 36748335 | 2023 | Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α. | 9 |
| 36748335 | 2023 | Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α. | 9 |
| 35675510 | 2022 | Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | 6 |
| 35675510 | 2022 | Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | 6 |
| 33320377 | 2021 | Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. | 5 |
| 33320377 | 2021 | Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. | 5 |
| 29668857 | 2018 | De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. | 33 |
| 29668857 | 2018 | De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. | 33 |
| 28065471 | 2017 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. | 38 |
| 28592880 | 2017 | Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers. | 8 |
| 28065471 | 2017 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. | 38 |
| 28592880 | 2017 | Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers. | 8 |
| 25652905 | 2015 | Expression and role of V1A subunit of V-ATPases in gastric cancer cells. | 20 |
Citation
Dessen P
ATP6V1A (ATPase H+ transporting V1 subunit A)
Atlas Genet Cytogenet Oncol Haematol. 2016-03-01
Online version: http://atlasgeneticsoncology.org/gene/55677/atp6v1a-(atpase-h+-transporting-v1-subunit-a)
