| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel subunit alpha1 S |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:38:00 | The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. | 32104981 |
| 2020-10-03 12:59:00 | CACNA1S haploinsufficiency confers resistance to New World arenavirus infection. | 32719120 |
| 2020-10-03 12:51:00 | PharmGKB summary: very important pharmacogene information for CACNA1S. | 31851124 |
| 2020-06-27 10:57:00 | Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Bayesian method provides new approach to predict MH pathogenicity of genetic variants | 31559918 |
| 2019-11-30 10:32:00 | Accumulating evidence supports its possible involvement in linking CaV1.1 and RyR1 in skeletal muscle EC coupling, but also indicates a second, much broader role of STAC proteins in the regulation of calcium/calmodulin-dependent feedback regulation of L-type calcium channels. | 30543836 |
| Type | IDs |
|---|---|
| Synonymous | CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP |
| Gene |
UniProtKB-ID:
CAC1S_HUMAN,
B1ALM3_HUMAN
UniprotKB:
Q13698,
B1ALM3
UniParc:
UPI000020471D,
UPI000046FF6E
EMBL:
U30688,
U30673,
U30683,
AL358473,
U30687,
U30674,
U30666,
U30697,
U30702,
U30695,
U30699,
U30684,
U30680,
Z50093,
M87487,
U30681,
Z50092,
U30675,
U30693,
M87488,
U30694,
U30678,
U30668,
U30682,
U30692,
Z50091,
U30691,
U30689,
BC133671,
L33798,
U30696,
U30703,
AL139159,
U30705,
U30679,
U30685,
U30672,
U30686,
U30700,
U30698,
U30677,
U30667,
U30669,
U30701,
U30690,
U30706,
U30676,
U09784,
U30704,
U30707,
KF455130,
M87486,
U30671,
U30670
Ensembl:
ENSG00000081248
KO:
hsa:779
|
| Nucleutide sequences |
EMBL-CDS:
AAA51902.1,
AAB37235.1,
AAA20531.1,
AAI33672.1
Ensembl_TRS:
ENST00000362061,
ENST00000367338
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355192,
ENSP00000356307
RefSeq:
XP_005245535.1,
NP_000060.2
|
| Others |
UniRef100:
UniRef100_B1ALM3,
UniRef100_Q13698
UniRef90:
UniRef90_Q13698
UniRef50:
UniRef50_Q13698
UniGene:
Hs.1294
CCDS:
CCDS1407.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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