Type | Description |
---|---|
Definition | ATPase plasma membrane Ca2+ transporting 3 |
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 |
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
|