| Type | Description |
|---|---|
| Definition | ATPase Na+/K+ transporting subunit alpha 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:49:00 | Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. | 31705535 |
| 2021-01-16 15:54:00 | Decreased Na(+)/K(+) ATPase Expression and Depolarized in Neurons Differentiated from Chorea-Acanthocytosis Patients. | 32439941 |
| 2020-08-01 14:06:00 | Helicobacter pylori decreases levels of Na-K-ATPase in gastric epithelial cells. The bacteria interfere with BiP-assisted folding of newly-made Na-K-ATPase subunits in the endoplasmic reticulum, accelerating their ubiquitylation and proteasomal degradation and decreasing efficiency of the assembly of native enzyme. | 32174134 |
| 2020-06-20 12:34:00 | Model results demonstrate that a reduction in the local NCX1- and NaK-mediated regulation of dyadic [Ca(2+)] and [Na(+)] results in an increase in Ca(2+) spark activity during isoproterenol stimulation, which in turn stochastically activates NCX1 in the dyad. | 30731085 |
| 2020-05-09 11:08:00 | Study identified two novel heterozygous mutations in ATP1A1, p.S207F and p.G877S, in the undefined Charcot-Marie-Tooth (CMT) cohort which were associated with classic intermediate CMT phenotypes. Functional analysis revealed that these mutations led to the loss function of the ATP1A1 protein by promoting its proteasome degradation. Taken together, ATP1A1 is confirmed as a novel causative gene for intermediate CMT. | 31373411 |
| Type | IDs |
|---|---|
| Synonymous | CMT2DD, HOMGSMR2 |
| Gene |
UniProtKB-ID:
AT1A1_HUMAN
UniprotKB:
P05023
UniParc:
UPI0001A471A4,
UPI0000EE6BE7,
UPI0000124FBB,
UPI000002A2E1
EMBL:
M30309,
BC001330,
BC003077,
CH471122,
AK296362,
M27579,
M16794,
M27572,
AL136376,
L76938,
BC050359,
X04297,
J03007,
AK295095,
M30310,
X03757,
D00099,
M16793,
AK314777,
U16798
Ensembl:
ENSG00000163399
KO:
hsa:476
|
| Nucleutide sequences |
EMBL-CDS:
AAD56251.1,
BAA00061.1,
AAH03077.1,
BAG37313.1,
AAA92713.1,
BAH12332.1,
AAH01330.1,
AAA51803.1,
AAA35573.1,
AAH50359.1,
CAA27840.1,
AAD56252.1,
EAW56644.1,
BAH11971.1,
AAA35574.2,
CAA27390.1,
AAC50131.1,
AAA51801.1
Ensembl_TRS:
ENST00000369496,
ENST00000295598,
ENST00000537345
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000295598,
ENSP00000358508,
ENSP00000445306
RefSeq:
NP_001153705.1,
NP_000692.2,
XP_016856849.1,
XP_016856850.1,
NP_001153706.1
|
| Others |
UniRef100:
UniRef100_P05023
UniRef90:
UniRef90_P06685
UniRef50:
UniRef50_P06685
UniGene:
Hs.371889
CCDS:
CCDS53351.1,
CCDS887.1,
CCDS53352.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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