Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
16A,ATP6IP1,ATP6S1,Ac45,CF2,VATPS1,XAP-3,XAP3
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: 537
MIM: 300197
HGNC: 868
Ensembl: ENSG00000071553
Variants:
dbSNP: 537
ClinVar: 537
TCGA: ENSG00000071553
COSMIC: ATP6AP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38369634 | 2024 | ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive analysis and verification. | 0 |
| 38878498 | 2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. | 0 |
| 38369634 | 2024 | ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive analysis and verification. | 0 |
| 38878498 | 2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. | 0 |
| 34997207 | 2022 | SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent pyroptosis by targeting ATP6AP1. | 88 |
| 35732497 | 2022 | Expanding the phenotype of ATP6AP1 deficiency. | 3 |
| 34997207 | 2022 | SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent pyroptosis by targeting ATP6AP1. | 88 |
| 35732497 | 2022 | Expanding the phenotype of ATP6AP1 deficiency. | 3 |
| 34228637 | 2021 | Prognostic and immunological value of ATP6AP1 in breast cancer: implications for SARS-CoV-2. | 7 |
| 34228637 | 2021 | Prognostic and immunological value of ATP6AP1 in breast cancer: implications for SARS-CoV-2. | 7 |
| 32058063 | 2020 | Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. | 10 |
| 32216104 | 2020 | Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. | 0 |
| 32058063 | 2020 | Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. | 10 |
| 32216104 | 2020 | Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. | 0 |
| 29192153 | 2018 | Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. | 10 |
Citation
Dessen P
ATP6AP1 (ATPase H+ transporting accessory protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-06-01
Online version: http://atlasgeneticsoncology.org/gene/42905/atp6ap1
