Identity
HGNC
LOCATION
1q23.2
LOCUSID
ALIAS
CASQ,PDIB1,VMCQA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 844
MIM: 114250
HGNC: 1512
Ensembl: ENSG00000143318
Variants:
dbSNP: 844
ClinVar: 844
TCGA: ENSG00000143318
COSMIC: CASQ1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143318 | ENST00000368078 | P31415 |
| ENSG00000143318 | ENST00000467691 | C9JAC8 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30258016 | 2018 | The clinical spectrum of CASQ1-related myopathy. | 10 |
| 30258016 | 2018 | The clinical spectrum of CASQ1-related myopathy. | 10 |
| 28895244 | 2017 | Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. | 28 |
| 28895244 | 2017 | Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. | 28 |
| 27185316 | 2016 | Calsequestrin-1 Regulates Store-Operated Ca2+ Entry by Inhibiting STIM1 Aggregation. | 18 |
| 27196359 | 2016 | A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. | 8 |
| 27185316 | 2016 | Calsequestrin-1 Regulates Store-Operated Ca2+ Entry by Inhibiting STIM1 Aggregation. | 18 |
| 27196359 | 2016 | A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. | 8 |
| 26136523 | 2015 | A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. | 6 |
| 26416891 | 2015 | Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy. | 16 |
| 26136523 | 2015 | A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. | 6 |
| 26416891 | 2015 | Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy. | 16 |
| 24887214 | 2014 | An association study of CASQ1 gene polymorphisms and heat stroke. | 3 |
| 25116801 | 2014 | A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. | 27 |
| 24887214 | 2014 | An association study of CASQ1 gene polymorphisms and heat stroke. | 3 |
Citation
Dessen P
CASQ1 (calsequestrin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-09-01
Online version: http://atlasgeneticsoncology.org/gene/54862/casq1-(calsequestrin-1)
