Identity
HGNC
LOCATION
8q11.23
LOCUSID
ALIAS
CGI-11,MSTP042,NBP1,SFD,SFDalpha,SFDbeta,VMA13
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: 51606
MIM: 608861
HGNC: 18303
Ensembl: ENSG00000047249
Variants:
dbSNP: 51606
ClinVar: 51606
TCGA: ENSG00000047249
COSMIC: ATP6V1H
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37824389 | 2024 | Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by Regulating ATP6V1H. | 0 |
| 37824389 | 2024 | Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by Regulating ATP6V1H. | 0 |
| 29751835 | 2018 | Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity. | 8 |
| 29751835 | 2018 | Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity. | 8 |
| 28158191 | 2017 | ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. | 29 |
| 28158191 | 2017 | ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. | 29 |
| 27924156 | 2016 | Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway. | 22 |
| 27924156 | 2016 | Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway. | 22 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 21871445 | 2011 | Decreased expression of ATP6V1H in type 2 diabetes: a pilot report on the diabetes risk study in Mexican Americans. | 9 |
| 21871445 | 2011 | Decreased expression of ATP6V1H in type 2 diabetes: a pilot report on the diabetes risk study in Mexican Americans. | 9 |
| 19815536 | 2010 | The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome. | 32 |
| 19815536 | 2010 | The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome. | 32 |
| 18368028 | 2008 | The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. | 12 |
Citation
Dessen P
ATP6V1H (ATPase H+ transporting V1 subunit H)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60650/atp6v1h-(atpase-h+-transporting-v1-subunit-h)
