| Type | Description |
|---|---|
| Definition | ATPase phospholipid transporting 8A2 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 13:58:00 | ATP8A2-related disorders as recessive cerebellar ataxia. | 31612321 |
| 2020-05-09 13:49:00 | Functional analysis of the effect of disease-associated missense mutations on ATP8A2 show that the p.Ile376Met and p.Lys429Met variants fold in a native-like conformation, but lack key amino acid residues required for ATP-dependent lipid transport. In contrast, the p.Lys429Asn, pAla544Pro, p.Arg625Trp, and p.Trp702Arg variants are highly misfolded and undergo rapid proteosomal degradation. | 31397519 |
| 2020-03-28 10:10:00 | Using an electrophysiological method based on solid supported membranes, we observed the generation of a transient electrical current by the mammalian P4-ATPase ATP8A2 in the presence of ATP and the negatively charged lipid substrate phosphatidylserine, whereas only a diminutive current was generated with the lipid substrate phosphatidylethanolamine, which carries no or little charge under the conditions of the measuremen | 31371510 |
| 2018-02-10 11:43:00 | Study describes a new ATP8A2 gene mutations associated with a novel syndrome that includes encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. The data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations. | 27679995 |
| 2013-09-21 11:36:00 | ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait. | 22892528 |
| Type | IDs |
|---|---|
| Synonymous | ATP, ATPIB, CAMRQ4, IB, ML-1 |
| Gene |
UniProtKB-ID:
AT8A2_HUMAN,
B7Z880_HUMAN,
Q6ZU25_HUMAN
UniprotKB:
Q9NTI2,
B7Z880,
Q6ZU25
UniParc:
UPI00001C0BF2,
UPI0001A61533,
UPI00019151D1,
UPI0000191E0F,
UPI0000229592
EMBL:
AL390129,
AL136438,
AL157366,
AK094653,
AL669971,
AL137256,
AL356316,
AL138958,
BX537836,
AK127263,
AK126031,
AL138815,
AK302980,
AF236871
Ensembl:
ENSG00000132932
KO:
hsa:51761
|
| Nucleutide sequences |
EMBL-CDS:
CAB70658.1,
CAB99084.1,
AAF40215.2,
BAC04396.1,
CAD97848.1,
BAC86905.1,
BAH13866.1,
BAC86402.1
Ensembl_TRS:
ENST00000381655
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371070
RefSeq:
XP_011533411.1,
XP_011533415.1,
XP_011533409.1,
XP_016876115.1,
XP_011533408.1,
XP_005266476.1,
NP_057613.4,
XP_011533406.1,
XP_016876114.1,
XP_011533405.1,
XP_024305137.1,
NP_001300670.1
|
| Others |
UniRef100:
UniRef100_Q6ZU25,
UniRef100_Q9NTI2,
UniRef100_B7Z880
UniRef90:
UniRef90_I3M3Z1,
UniRef90_P98200
UniRef50:
UniRef50_Q9Y2Q0
UniGene:
Hs.444957
CCDS:
CCDS41873.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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