| Type | Description |
|---|---|
| Definition | ATPase Na+/K+ transporting subunit alpha 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-26 13:12:00 | Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. | 32454213 |
| 2020-12-19 13:43:00 | Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. | 32913013 |
| 2020-10-10 13:00:00 | ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy. | 32440726 |
| 2020-08-13 11:38:00 | misfolding of alpha subunit and allele competition for beta subunit are factors distinct from changes in Na,K-ATPase activity or kinetics for the potential to cause disease. | 31425744 |
| 2020-07-25 11:20:00 | This is the first systematic report of ATP1A3 mosaicism in AHC and showed mosaicism as an unrecognized source of previously considered "de novo" AHC. Identifying ATP1A3 mosaicism provides more evidence for estimating recurrence risk and has implications in genetic counseling of AHC. | 30891744 |
| Type | IDs |
|---|---|
| Synonymous | AHC2, ATP1A1, CAPOS, DYT12, RDP |
| Gene |
UniProtKB-ID:
AT1A3_HUMAN,
Q53ES0_HUMAN
UniprotKB:
P13637,
Q53ES0
UniParc:
UPI00020651B0,
UPI000050AA21,
UPI0001914BDE,
UPI000013E791
EMBL:
M37453,
X12922,
M35822,
M35821,
M37450,
M37440,
M37438,
M37445,
BC009282,
M37442,
AK223569,
M28290,
M28293,
M27570,
X12910,
M37443,
M28287,
X12916,
X12919,
X12923,
X12921,
M28291,
AC010616,
AK295078,
M37436,
M27573,
M37444,
M37454,
M28292,
X12917,
M37457,
BC009394,
M37439,
M37437,
BC015566,
M28285,
M37449,
M37447,
X12920,
M37452,
M27577,
M28289,
X12915,
M37462,
M37456,
X12913,
X12914,
AK296557,
M28286,
M37451,
M37455,
M37448,
X12911,
M28284,
M37441,
X12912
Ensembl:
ENSG00000105409
KO:
hsa:478
|
| Nucleutide sequences |
EMBL-CDS:
AAH09282.1,
AAA51798.1,
CAA31390.1,
AAA52286.1,
BAH12387.1,
AAH09394.1,
AAA52285.1,
AAH15566.1,
BAH11966.1,
AAA58380.1,
BAD97289.1
Ensembl_TRS:
ENST00000543770,
ENST00000648268,
ENST00000545399
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498113,
ENSP00000437577,
ENSP00000444688
RefSeq:
NP_689509.1,
NP_001243142.1,
NP_001243143.1
|
| Others |
UniRef100:
UniRef100_P13637,
UniRef100_Q53ES0
UniRef90:
UniRef90_P13637
UniRef50:
UniRef50_P50993
UniGene:
Hs.515427
CCDS:
CCDS12594.1,
CCDS58663.1,
CCDS58664.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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