CASQ1 (calsequestrin 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 844
Gene name Calsequestrin 1
Gene symbol CASQ1
Synonyms (NCBI Gene)
CASQCSQ1PDIB1VMCQA
Chromosome 1
Chromosome location 1q23.2
Summary This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functio
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs150143470 G>T Conflicting-interpretations-of-pathogenicity Stop gained, coding sequence variant
rs730882052 A>G Pathogenic Coding sequence variant, missense variant
rs749145120 G>A,T Likely-pathogenic Coding sequence variant, missense variant
rs773153762 C>- Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT018690 hsa-miR-335-5p Microarray 18185580
MIRT029942 hsa-miR-26b-5p Microarray 19088304
MIRT437538 hsa-miR-19b-3p Immunoprecipitaion 22382630
MIRT864261 hsa-miR-135a CLIP-seq
MIRT864262 hsa-miR-135b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (48)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 22337878, 28895244
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 27185316, 32296183
GO:0005739 Component Mitochondrion HDA 20833797
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114250 1512 ENSG00000143318
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31415
Protein name Calsequestrin-1 (Calmitine) (Calsequestrin, skeletal muscle isoform)
Protein function Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the inter
PDB 3UOM , 5CRD , 5CRE , 5CRG , 5CRH , 8F48
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01216 Calsequestrin 11 → 396 Calsequestrin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in myoblasts (at protein level). {ECO:0000269|PubMed:27196359}.
Sequence
Sequence length 396
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway   Stimuli-sensing channels
Ion homeostasis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myopathy due to calsequestrin and SERCA1 protein overload Pathogenic; Likely pathogenic rs730882052, rs1422979746 RCV000161143
RCV003485017
Myopathy with tubular aggregates Pathogenic rs2525040830 RCV004587619
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CASQ1-related disorder Uncertain significance; Benign; Likely benign rs557262712, rs150330307, rs190698081, rs771410439, rs747649543, rs140253806, rs138196284, rs55804336 RCV003416516
RCV003978804
RCV003404076
RCV003973772
RCV003402319
RCV003930725
RCV003940601
RCV004746139
Familial cancer of breast Benign; Conflicting classifications of pathogenicity rs554168380, rs145486953 RCV005868641
RCV005907756
Hepatocellular carcinoma Benign rs78149381 RCV005908774
Lymphoma Benign rs554168380, rs78149381 RCV005868642
RCV005908777
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 30258016
Cardiovascular Abnormalities Associate 30258016
Crisponi syndrome Associate 25532418
Exercise Induced Allergies Associate 30258016
Fasciculation Associate 27196359
Heart Diseases Associate 24427266, 30258016
Malignant Hyperthermia Associate 26416891
Meningioma Associate 30258016
Muscle Weakness Associate 30258016
Muscular Diseases Associate 30258016