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Aliases for CASQ1 Gene

Aliases for CASQ1 Gene

  • Calsequestrin 1 2 3 5
  • Calmitine 2 3 4
  • Calsequestrin 1 (Fast-Twitch, Skeletal Muscle) 2 3
  • Calsequestrin, Skeletal Muscle Isoform 3 4
  • CASQ 3 4
  • Calsequestrin 1, Fast-Twitch, Skeletal Muscle 2
  • Calsequestrin-1 3
  • Calmitin 3
  • PDIB1 3
  • VMCQA 3

External Ids for CASQ1 Gene

Previous HGNC Symbols for CASQ1 Gene

  • CASQ

Previous GeneCards Identifiers for CASQ1 Gene

  • GC01P157952
  • GC01P155892
  • GC01P156938
  • GC01P157377
  • GC01P156973
  • GC01P158427
  • GC01P160160
  • GC01P131517

Summaries for CASQ1 Gene

Entrez Gene Summary for CASQ1 Gene

  • 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, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]

GeneCards Summary for CASQ1 Gene

CASQ1 (Calsequestrin 1) is a Protein Coding gene. Diseases associated with CASQ1 include Myopathy, Vacuolar, With Casq1 Aggregates and Malignant Hyperthermia. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CASQ2.

UniProtKB/Swiss-Prot for CASQ1 Gene

  • Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASQ1 Gene

Genomics for CASQ1 Gene

Regulatory Elements for CASQ1 Gene

Enhancers for CASQ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F160187 1.3 Ensembl ENCODE 16.1 +0.3 283 6.7 HDGF ATF1 ARNT ZNF133 SIN3A ARID4B GLI4 DMAP1 ZNF48 ZNF2 ENSG00000228606 NCSTN CASQ1 SLAMF8 ACKR1 LOC729867 CADM3-AS1 ATP1A4 CFAP45 COPA
GH01F160095 1.4 FANTOM5 ENCODE 11 -90.9 -90948 8.2 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS ATP1A4 IGSF8 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM LOC105371465 ATP1A2
GH01F160123 1.3 Ensembl ENCODE 11.1 -64.1 -64074 6.8 HDGF PKNOX1 ATF1 YY1 GLIS2 KLF7 FOS DEK ZNF263 SP3 ATP1A4 IGSF8 PEA15 CASQ1 KCNJ9 PIGM ATP1A2 GC01P160125 GC01P160126 GC01M160128
GH01F160291 1.2 ENCODE 11.2 +101.5 101539 1.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 NCSTN ENSG00000228606 ENSG00000238934 ENSG00000224985 OR10J9P ENSG00000272668 OR10J1 RPSAP18 CASQ1 COPA
GH01F160250 0.8 ENCODE 11.3 +61.2 61151 2.0 CTCF SAP130 MAX CEBPG ZNF2 RAD21 RFX5 FOXK2 HSF1 SCRT2 CASQ1 PEA15 ATP1A2 IGSF8 GC01P160261 PIR40871
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASQ1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASQ1 Gene

Chromosome:
1
Start:
160,190,495 bp from pter
End:
160,201,886 bp from pter
Size:
11,392 bases
Orientation:
Plus strand

Genomic View for CASQ1 Gene

Genes around CASQ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASQ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASQ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASQ1 Gene

Proteins for CASQ1 Gene

  • Protein details for CASQ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31415-CASQ1_HUMAN
    Recommended name:
    Calsequestrin-1
    Protein Accession:
    P31415
    Secondary Accessions:
    • B1AKZ2
    • B2R863
    • Q8TBW7

    Protein attributes for CASQ1 Gene

    Size:
    396 amino acids
    Molecular mass:
    45160 Da
    Quaternary structure:
    • Interacts with ASPH and TRDN (By similarity). Monomer, homodimer, homotetramer and homopolymer. Can form linear homooligomers. Ca(2+) ions promote oligomerization.
    SequenceCaution:
    • Sequence=AAB32063.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH22289.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36060.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASQ1 Gene

neXtProt entry for CASQ1 Gene

Post-translational modifications for CASQ1 Gene

Other Protein References for CASQ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASQ1 Gene

Domains & Families for CASQ1 Gene

Gene Families for CASQ1 Gene

Protein Domains for CASQ1 Gene

Suggested Antigen Peptide Sequences for CASQ1 Gene

Graphical View of Domain Structure for InterPro Entry

P31415

UniProtKB/Swiss-Prot:

CASQ1_HUMAN :
  • Belongs to the calsequestrin family.
Family:
  • Belongs to the calsequestrin family.
genes like me logo Genes that share domains with CASQ1: view

Function for CASQ1 Gene

Molecular function for CASQ1 Gene

GENATLAS Biochemistry:
calsequestrin 1,44kDa,fast twitch,skeletal muscle (calcium storage protein in terminal cisternae of sarcoplasmic reticulum)
UniProtKB/Swiss-Prot Function:
Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction.

Gene Ontology (GO) - Molecular Function for CASQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 22337878
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CASQ1: view
genes like me logo Genes that share phenotypes with CASQ1: view

Human Phenotype Ontology for CASQ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASQ1 Gene

MGI Knock Outs for CASQ1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASQ1

miRNA for CASQ1 Gene

miRTarBase miRNAs that target CASQ1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CASQ1 Gene

Localization for CASQ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASQ1 Gene

Sarcoplasmic reticulum. Sarcoplasmic reticulum lumen. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Mitochondrion matrix. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulums terminal cisternae luminal spaces of fast skeletal muscle cells. {ECO:0000250 UniProtKB:P07221}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASQ1 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 3
extracellular 2
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CASQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005759 mitochondrial matrix ISS,TAS --
GO:0005783 endoplasmic reticulum NAS 7945294
GO:0005790 smooth endoplasmic reticulum TAS 7945294
genes like me logo Genes that share ontologies with CASQ1: view

Pathways & Interactions for CASQ1 Gene

genes like me logo Genes that share pathways with CASQ1: view

Pathways by source for CASQ1 Gene

1 BioSystems pathway for CASQ1 Gene
1 PharmGKB pathway for CASQ1 Gene

Interacting Proteins for CASQ1 Gene

Gene Ontology (GO) - Biological Process for CASQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007029 endoplasmic reticulum organization IEA --
GO:0007519 skeletal muscle tissue development IEA --
GO:0009408 response to heat IEA --
GO:0010033 response to organic substance IEA --
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CASQ1: view

No data available for SIGNOR curated interactions for CASQ1 Gene

Drugs & Compounds for CASQ1 Gene

(2) Drugs for CASQ1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CASQ1: view

Transcripts for CASQ1 Gene

mRNA/cDNA for CASQ1 Gene

Unigene Clusters for CASQ1 Gene

Calsequestrin 1 (fast-twitch, skeletal muscle):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASQ1 Gene

No ASD Table

Relevant External Links for CASQ1 Gene

GeneLoc Exon Structure for
CASQ1
ECgene alternative splicing isoforms for
CASQ1

Expression for CASQ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASQ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASQ1 Gene

This gene is overexpressed in Muscle - Skeletal (x44.9).

Protein differential expression in normal tissues from HIPED for CASQ1 Gene

This gene is overexpressed in Tonsil (37.8) and Oral epithelium (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CASQ1 Gene



Protein tissue co-expression partners for CASQ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASQ1 Gene:

CASQ1

SOURCE GeneReport for Unigene cluster for CASQ1 Gene:

Hs.632476

mRNA Expression by UniProt/SwissProt for CASQ1 Gene:

P31415-CASQ1_HUMAN
Tissue specificity: Expressed in myoblasts (at protein level).
genes like me logo Genes that share expression patterns with CASQ1: view

Primer Products

Orthologs for CASQ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASQ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASQ1 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia CASQ1 34 35
  • 92.08 (n)
rat
(Rattus norvegicus)
Mammalia Casq1 34
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Casq1 34 16 35
  • 90.89 (n)
oppossum
(Monodelphis domestica)
Mammalia CASQ1 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASQ1 34 35
  • 88.8 (n)
lizard
(Anolis carolinensis)
Reptilia CASQ1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casq1 34
  • 75 (n)
African clawed frog
(Xenopus laevis)
Amphibia asph-prov 34
zebrafish
(Danio rerio)
Actinopterygii casq1a 34 35
  • 68.66 (n)
casq1b 35
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea csq-1 34 35
  • 50.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for CASQ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CASQ1 Gene

ENSEMBL:
Gene Tree for CASQ1 (if available)
TreeFam:
Gene Tree for CASQ1 (if available)

Paralogs for CASQ1 Gene

Paralogs for CASQ1 Gene

(1) SIMAP similar genes for CASQ1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CASQ1: view

Variants for CASQ1 Gene

Sequence variations from dbSNP and Humsavar for CASQ1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs730882052 Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231], Pathogenic 160,195,976(+) CCCAG(A/G)CAAGC reference, missense
rs10908769 -- 160,195,661(+) CCCCC(C/T)CCGGC intron-variant
rs111068261 -- 160,194,605(+) CACAC(A/T)CCACA intron-variant
rs111162329 -- 160,194,312(+) ACACA(C/T)GCCAC intron-variant
rs111162330 -- 160,194,327(+) GTACA(C/T)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASQ1 Gene

Variant ID Type Subtype PubMed ID
esv2761950 CNV gain 21179565

Variation tolerance for CASQ1 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.12; 61.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASQ1 Gene

Human Gene Mutation Database (HGMD)
CASQ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASQ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASQ1 Gene

Disorders for CASQ1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CASQ1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, vacuolar, with casq1 aggregates
  • myopathy due to calsequestrin and serca1 protein overload
malignant hyperthermia
  • anesthesia related hyperthermia
malignant hyperthermia susceptibility
  • malignant hyperpyrexia due to anesthesia
orbital disease
  • orbital diseases
- elite association - COSMIC cancer census association via MalaCards
Search CASQ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CASQ1_HUMAN
  • Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231]: An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic. {ECO:0000269 PubMed:25116801, ECO:0000269 PubMed:27196359}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CASQ1

Genetic Association Database (GAD)
CASQ1
Human Genome Epidemiology (HuGE) Navigator
CASQ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASQ1
genes like me logo Genes that share disorders with CASQ1: view

No data available for Genatlas for CASQ1 Gene

Publications for CASQ1 Gene

  1. Type 2 diabetes susceptibility genes on chromosome 1q21-24. (PMID: 18269685) Hasstedt S.J. … Elbein S.C. (Ann. Hum. Genet. 2008) 3 22 46 64
  2. Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites. (PMID: 17681849) SparsA … Andersen G. (Mol. Genet. Metab. 2007) 3 22 46 64
  3. Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish. (PMID: 15561962) Fu M. … Shuldiner A.R. (Diabetes 2004) 3 22 46 64
  4. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K. … MacLennan D.H. (Genomics 1993) 2 3 22 64
  5. Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene. (PMID: 2321095) Fujii J. … Maclennan D.H. (Somat. Cell Mol. Genet. 1990) 2 3 4 64

Products for CASQ1 Gene

Sources for CASQ1 Gene

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