Type | Description |
---|---|
Definition | hippocalcin |
Date | Results | Publications |
---|---|---|
2019-11-23 12:06:00 | MiR-24-3p is an important miRNA that regulates neuronal differentiation by controlling HPCA expression. | 31486848 |
2019-11-09 12:11:00 | HPCA mutations lead to recessively inherited dystonia | 30145809 |
2019-09-21 12:59:00 | Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. | 23782819 |
2018-03-03 11:45:00 | Sequence analysis of the HPCA gene in 505 patients with dystonia did not reveal variants in the coding regions of HPCA. | 27145302 |
2017-11-04 12:02:00 | hippocalcin forms oligomers upon calcium binding and directly interacts with VGCCs. The dystonia-causing mutations did not affect protein stability or folding. In common for both T71N and A190T mutants was an impaired calcium-dependent oligomerisation and increased intracellular calcium influx after KCl depolarisation. | 28398555 |
Type | IDs |
---|---|
Synonymous | BDR2, DYT2 |
Gene |
UniProtKB-ID:
HPCA_HUMAN
UniprotKB:
P84074
UniParc:
UPI0000022FC5
EMBL:
D16593,
AB015202,
CH471059,
AK313907,
BC001777
Ensembl:
ENSG00000121905
KO:
hsa:3208
|
Nucleutide sequences |
EMBL-CDS:
BAA04019.1,
AAH01777.1,
BAG36630.1,
EAX07498.1,
EAX07496.1,
BAA74456.1,
EAX07495.1
Ensembl_TRS:
ENST00000373467
|
Protein sequencees |
Ensembl_PRO:
ENSP00000362566
RefSeq:
XP_005270849.1,
NP_002134.2,
XP_016856607.1
|
Others |
UniRef100:
UniRef100_P84074
UniRef90:
UniRef90_P84074
UniRef50:
UniRef50_P84074
UniGene:
Hs.632391
CCDS:
CCDS370.1
|
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Refseq |
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