| Type | Description |
|---|---|
| Definition | calsequestrin 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-31 10:12:00 | This study showed that twenty-two CASQ1-mutated patients (12 families) were identified, 21 sharing the previously described founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation. | 30258016 |
| 2018-06-23 11:35:00 | These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers. | 28895244 |
| 2017-07-22 12:59:00 | the p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release | 27196359 |
| 2017-02-18 10:49:00 | Calsequestrin-1 monomers suppress Store-Operated Ca2+ Entry by interacting with STIM1 and attenuating STIM1 aggregation via its C-terminal amino acid 362-396. | 27185316 |
| 2016-06-04 10:48:00 | the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1 due to the D244G heterozygous missense mutation in the CASQ1 gene | 26136523 |
| Type | IDs |
|---|---|
| Synonymous | CASQ, PDIB1, VMCQA |
| Gene |
UniProtKB-ID:
CASQ1_HUMAN
UniprotKB:
P31415
UniParc:
UPI0000204B81
EMBL:
BC022289,
AK313250,
S73775,
AL121987,
CH471121
Ensembl:
ENSG00000143318
KO:
hsa:844
|
| Nucleutide sequences |
EMBL-CDS:
AAH22289.1,
EAW52736.1,
BAG36060.1,
AAB32063.1
Ensembl_TRS:
ENST00000368078
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000357057
RefSeq:
NP_001222.3
|
| Others |
UniRef100:
UniRef100_P31415
UniRef90:
UniRef90_P31415
UniRef50:
UniRef50_P31415
UniGene:
Hs.632476
CCDS:
CCDS1198.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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