ATP6V1B1 (ATPase H+ transporting V1 subunit B1)

2014-11-01  

Identity

HGNC
LOCATION
2p13.3
LOCUSID
ALIAS
ATP6B1,DRTA2,RTA1B,VATB,VMA2,VPP3

Other Information

Locus ID:

NCBI: 525
MIM: 192132
HGNC: 853
Ensembl: ENSG00000116039

Variants:

dbSNP: 525
ClinVar: 525
TCGA: ENSG00000116039
COSMIC: ATP6V1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116039ENST00000234396P15313
ENSG00000116039ENST00000412314C9JL73
ENSG00000116039ENST00000433895C9JZ02
ENSG00000116039ENST00000454446C9JNS9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190087102008Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension.24
251640822014Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.14
282336102017The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.13
264536142016The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
196393462009Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.10
225099932013Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.10
172164962007Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.9
293108262018Changes 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.9

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