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3208 HPCA

3208

HPCA

hippocalcin

protein-coding

Homo sapiens

基因描述

Type Description
Definition hippocalcin

研究结论

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

名称对应

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

全选

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研究热度

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