Property Summary

NCBI Gene PubMed Count 54
Grant Count 5
R01 Count 5
Funding $295,871.71
PubMed Score 40.49
PubTator Score 51.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.009 0.000
ovarian cancer 1.700 0.000
psoriasis -1.500 0.000

Gene RIF (21)

PMID Text
25498251 ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.
25496667 Genome-wide shRNA screening identifies ATP6V1B1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells
25285676 Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases.
25164082 demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance; propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency
24975934 Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss
24252324 Three ATP6V1B1 mutations were observed: one frameshift mutation in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site in intron 2, and one novel missense mutation in exon 11.
23923981 Rare and family-specific variants in ATP6V1B1 are responsible for distal renal tubular acidosis and sensorineural hearing loss syndrome in Turkey.
23729491 Mutations of the ATP6V1B1 gene is associated with primary distal renal tubular acidosis.
22509993 Data indicate that direct sequencing of the ATP6V1B1 gene showed one patient harbors two homozygous mutations and the other one is a compound heterozygous.
20805693 Only two ATP6V1B1 mutations are found in a Cypriot population with distal renal tubular acidosis.
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AA Sequence

MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTL      1 - 70
PDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVM     71 - 140
AEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKS    141 - 210
KAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLA    211 - 280
YQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTM    281 - 350
PNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACY    351 - 420
AIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIP    421 - 490
QAVIDEFYSREGALQDLAPDTAL                                                   491 - 513
//

Text Mined References (56)

PMID Year Title
25498251 2014 Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
25285676 2014 Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
25164082 2014 Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.
24975934 2014 Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24252324 2013 Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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