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: 525
MIM: 192132
HGNC: 853
Ensembl: ENSG00000116039
Variants:
dbSNP: 525
ClinVar: 525
TCGA: ENSG00000116039
COSMIC: ATP6V1B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116039 | ENST00000234396 | P15313 |
| ENSG00000116039 | ENST00000412314 | C9JL73 |
| ENSG00000116039 | ENST00000433895 | C9JZ02 |
| ENSG00000116039 | ENST00000454446 | C9JNS9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35301649 | 2022 | Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco. | 0 |
| 35301649 | 2022 | Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco. | 0 |
| 34157794 | 2021 | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | 8 |
| 34157794 | 2021 | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | 8 |
| 31733597 | 2020 | ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. | 2 |
| 31733597 | 2020 | ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. | 2 |
| 30821427 | 2019 | Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis. | 2 |
| 30821427 | 2019 | Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis. | 2 |
| 29024829 | 2018 | Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. | 7 |
| 29054531 | 2018 | The ammonia transporter RhCG modulates urinary acidification by interacting with the vacuolar proton-ATPases in renal intercalated cells. | 9 |
| 29310826 | 2018 | Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. | 0 |
| 29993276 | 2018 | H(+)-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney. | 10 |
| 30230413 | 2018 | Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. | 2 |
| 30256676 | 2018 | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. | 0 |
| 29024829 | 2018 | Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. | 7 |
Citation
Dessen P
ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60640/atp6v1b1-(atpase-h+-transporting-v1-subunit-b1)
