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525 ATP6V1B1

525

ATP6V1B1

ATPase H+ transporting V1 subunit B1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+ transporting V1 subunit B1

研究结论

Date Results Publications
2020-06-06 11:14:00 Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients. 31733597
2019-12-14 10:46:00 Serum autoantibodies to subunit B1 and subunit B2 of v-H(+) -ATPase in renal tubular acidosis patients may be responsible for impaired urinary acidification. 30821427
2019-07-13 10:10:00 ATP6V1B1 is expressed in the early distal nephron. The physiological importance of H(+)-ATPase expression in these segments remains to be delineated. 29993276
2019-01-26 12:22:00 In patient one, Two novel heterozygous missense mutations of the ATP6V1B1 gene (c.409C>T, p.Pro137Ser; c.904C>T, p.Arg302Trp) were identified. In patient III 2 novel heterozygous duplications (c.1504dupT, p.Tyr502Leufs*22; c.2351dupT, p.Phe785Ilefs*28) were found. 30256676
2019-01-05 10:28:00 Both B1 and B2 subunits of the V-ATPase are detectable in human urinary exosomes, and acid and alkali loading or distal renal tubular acidosis cause changes in the B1 but not B2 subunit abundance in urinary exosomes. 29310826

名称对应

Type IDs
Synonymous ATP6B1, RTA1B, VATB, VMA2, VPP3
Gene
UniProtKB-ID: VATB1_HUMAN
UniprotKB: P15313
UniParc: UPI000013C9A0
EMBL: CH471053, AK291121, BC063411, AK223151, AK313194, M25809
Ensembl: ENSG00000116039
KO: hsa:525
Nucleutide sequences
EMBL-CDS: BAG36011.1, BAD96871.1, BAF83810.1, EAW99790.1, AAH63411.1, AAA36498.1
Ensembl_TRS: ENST00000234396
Protein sequencees
Ensembl_PRO: ENSP00000234396
RefSeq: XP_011531209.1, NP_001683.2
Others
UniRef100: UniRef100_P15313
UniRef90: UniRef90_P15313
UniRef50: UniRef50_P15313
UniGene: Hs.64173
CCDS: CCDS1912.1

全选

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