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492 ATP2B3

492

ATP2B3

ATPase plasma membrane Ca2+ transporting 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase plasma membrane Ca2+ transporting 3

研究结论

Date Results Publications
2018-12-22 11:54:00 Authors report a novel PMCA3 mutation (G733R substitution) in the catalytic P-domain of the pump in a patient affected by non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus. 28807751
2018-12-22 11:36:00 The ataxia related G1107D mutation of the PMCA 3 impairs its calcium pumping function. The mutation affects the interplay of calmodulin with its binding domain on the pump, decreasing its stimulation. 27632770
2017-06-10 13:07:00 In summary, the APA-associated ATP2B3(Leu425_Val426del) mutant promotes aldosterone production by at least 2 different mechanisms: 1) a reduced Ca(2+) export due to the loss of the physiological pump function; and 2) an increased Ca(2+) influx due to opening of depolarization-activated Ca(2+) channels as well as a possible Ca(2+) leak through the mutated pump. 27035656
2016-05-28 10:27:00 Mutations in ATP2B3 gene is associated with aldosterone-producing adenomas. 26285814
2016-02-13 12:49:00 Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified. 26351028

名称对应

Type IDs
Synonymous CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1
Gene
UniProtKB-ID: AT2B3_HUMAN
UniprotKB: Q16720
UniParc: UPI0000E4453C, UPI000059DBBC, UPI0000E4453D, UPI0000E4453B, UPI000013D41A, UPI00001AE881, UPI0000367793, UPI0000E4453E
EMBL: CH471172, U82695, AH006061, U15690, U57971, U60414, U15689
Ensembl: ENSG00000067842
KO: hsa:492
Nucleutide sequences
EMBL-CDS: AAB09762.1, AAC15078.1, EAW72859.1, AAA60987.1, AAA60986.1, AAB38530.1
Ensembl_TRS: ENST00000370186, ENST00000263519, ENST00000393842, ENST00000359149, ENST00000349466
Protein sequencees
Ensembl_PRO: ENSP00000352062, ENSP00000359205, ENSP00000343886, ENSP00000377425, ENSP00000263519
RefSeq: XP_011529479.1, NP_001375291.1, NP_068768.2, NP_001001344.1, NP_001375289.1, XP_005274748.1, NP_001375290.1, XP_016885042.1, XP_005274746.1, XP_024308154.1
Others
UniRef100: UniRef100_Q16720
UniRef90: UniRef90_Q16720
UniRef50: UniRef50_Q16720
UniGene: Hs.533956, Hs.658008
CCDS: CCDS35440.1, CCDS14722.1

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