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776 CACNA1D

776

CACNA1D

calcium voltage-gated channel subunit alpha1 D

protein-coding

Homo sapiens

基因描述

Type Description
Definition calcium voltage-gated channel subunit alpha1 D

研究结论

Date Results Publications
2021-01-02 12:48:00 Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder. 31921405
2020-09-26 13:07:00 Cdk5 phosphorylates CaV1.3 channels and regulates GABAA-mediated miniature inhibitory post-synaptic currents in striato-nigral terminals. 31983427
2020-06-27 12:18:00 MiR-1976 plays an important role in the SAN aging process by targeting Cav1.2 and Cav1.3. 31302118
2020-02-29 11:22:00 Interaction between C-Terminal CaV1.3 Isoforms and Calmodulin 30773296
2020-02-01 12:15:00 The CACNA1D rs9810888 polymorphism was significantly associated with elevated blood pressure. In addition, unhealthy lifestyle behaviors and rs9810888 GG genotype had combined effects on blood pressure levels in Chinese children. 31145748

名称对应

Type IDs
Synonymous CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Gene
UniProtKB-ID: CAC1D_HUMAN, Q59GD8_HUMAN, A0A1B0GUN6_HUMAN
UniprotKB: Q01668, Q59GD8, A0A1B0GUN6
UniParc: UPI000387CABD, UPI000005031A, UPI000163AC0E, UPI000013DEF4, UPI00035BEEF7, UPI00004F6BCA
EMBL: AF055575, EU363339, AC092035, AC132810, AC012467, M83566, AC112218, D43747, M76558, AC005905, AC024149, AB209171
Ensembl: ENSG00000157388
KO: hsa:776
Nucleutide sequences
EMBL-CDS: AAA58402.1, AAD08651.1, BAA07804.1, ABY66526.1, AAA35629.1, BAD92408.1
Ensembl_TRS: ENST00000350061, ENST00000288139, ENST00000422281, ENST00000481478, ENST00000636570
Protein sequencees
Ensembl_PRO: ENSP00000409174, ENSP00000288133, ENSP00000288139, ENSP00000418014, ENSP00000490183
RefSeq: XP_016862631.1, XP_011532396.1, XP_016862634.1, XP_016862627.1, XP_005265505.1, XP_011532401.1, XP_011532399.1, NP_001122311.1, XP_011532398.1, XP_016862632.1, XP_016862630.1, NP_000711.1, NP_001122312.1, XP_011532402.1, XP_016862633.1, XP_016862629.1, XP_016862628.1, XP_016862626.1
Others
UniRef100: UniRef100_A0A1B0GUN6, UniRef100_Q59GD8, UniRef100_Q01668
UniRef90: UniRef90_Q01668, UniRef90_A0A1B0GUN6, UniRef90_Q01668-2
UniRef50: UniRef50_P27732, UniRef50_Q13936
UniGene: Hs.476358
CCDS: CCDS46848.1, CCDS46849.1, CCDS2872.1

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