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CASQ1 Gene

protein-coding   GIFtS: 57
GCID: GC01P160160

Calsequestrin 1 (Fast-Twitch, Skeletal Muscle)


(Previous symbol: CASQ)
  See CASQ1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calsequestrin 1 (Fast-Twitch, Skeletal Muscle)1 2     Skeletal Muscle1
CASQ1 2 3     PDIB12
calmitine1 2     calmitin2
Calsequestrin, Skeletal Muscle Isoform2 3     calsequestrin-12
Calsequestrin 11     Calmitin3
fast-twitch1     

External Ids:    HGNC: 15121   Entrez Gene: 8442   Ensembl: ENSG000001433187   OMIM: 1142505   UniProtKB: P314153   

Export aliases for CASQ1 gene to outside databases

Previous GC identifers: GC01P157952 GC01P155892 GC01P156938 GC01P157377 GC01P156973 GC01P158427 GC01P131517


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (fast-twitch, skeletal muscle)) is a protein-coding gene. Diseases associated with CASQ1 include gas gangrene, and malignant hyperthermia susceptibility. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CASQ2.

UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415
Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an
internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel
triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac
isoform (CASQ2) binds approximately 60 Ca(2+)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASQ1 gene promoter:
         SRF   Tal-1   Nkx5-1   Arnt   E47   YY1   RORalpha1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASQ1 promoter sequence
   Search Chromatin IP Primers for CASQ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASQ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q21

CASQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASQ1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P160160:  view genomic region     (about GC identifiers)

Start:
160,160,285 bp from pter      End:
160,171,676 bp from pter
Size:
11,392 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415 (See protein sequence)
Recommended Name: Calsequestrin-1 precursor  
Size: 396 amino acids; 45160 Da
Sequence caution: Sequence=AAB32063.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH22289.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36060.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for CASQ1:
3UOM (3D)    
Secondary accessions: B1AKZ2 B2R863 Q8TBW7

Explore the universe of human proteins at neXtProt for CASQ1: NX_P31415

Explore proteomics data for CASQ1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn350
  • Modification sites at PhosphoSitePlus

  • See CASQ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001222.3  
    ENSEMBL proteins: 
     ENSP00000357057   ENSP00000418051   ENSP00000357058  
    Reactome Protein details: P31415

    CASQ1 Human Recombinant Protein Products:

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    Novus Biologicals CASQ1 Proteins
    Novus Biologicals CASQ1 Lysate
    Sino Biological Recombinant Protein for CASQ1
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for CASQ1 (12 products) 

     
    antibodies-online peptides for CASQ1

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    antibodies-online antibodies for CASQ1 (29 products) 

    CASQ1 Assay Products:

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    antibodies-online kits for CASQ1 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    3 InterPro protein domains:
     IPR001393 Calsequestrin
     IPR012336 Thioredoxin-like_fold
     IPR018233 Calsequestrin_CS

    Graphical View of Domain Structure for InterPro Entry P31415

    ProtoNet protein and cluster: P31415

    1 Blocks protein domain: IPB001393 Calsequestrin

    UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415
    Similarity: Belongs to the calsequestrin family


    Find genes that share domains with CASQ1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASQ1_HUMAN, P31415
    Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an
    internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel
    triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac
    isoform (CASQ2) binds approximately 60 Ca(2+)

         Genatlas biochemistry entry for CASQ1:
    calsequestrin 1,44kDa,fast twitch,skeletal muscle (calcium storage protein in terminal cisternae of sarcoplasmic
    reticulum)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with CASQ1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CASQ1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Casq1):
     growth/size/body  muscle 

    Find genes that share phenotypes with CASQ1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CASQ1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASQ1:
    hsa-mir-26b-5p (MIRT029942), hsa-mir-335-5p (MIRT018690)

    Block miRNA regulation of human, mouse, rat CASQ1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CASQ1:
    hsa-miR-579 hsa-miR-323-3p hsa-miR-324-3p hsa-miR-3065-3p hsa-miR-3667-3p hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidCASQ1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CASQ1
    Predesigned siRNA for gene silencing in human, mouse, rat CASQ1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CASQ1 (see all 10)
    OriGene ORF clones in mouse, rat for CASQ1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CASQ1 (NM_001231)
    Sino Biological Human cDNA Clone for CASQ1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASQ1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASQ1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CASQ1_HUMAN, P31415: Sarcoplasmic reticulum lumen. Mitochondrion. Note=This isoform of calsequestrin occurs in
    the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. Also mitochondrial
    according to PubMed:7945294
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    extracellular2
    golgi apparatus2
    plasma membrane2
    cytoskeleton1
    cytosol1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS7945294
    GO:0005783endoplasmic reticulum NAS7945294
    GO:0005790smooth endoplasmic reticulum TAS7945294

    Find genes that share ontologies with CASQ1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CASQ1 About    
    See pathways by source

    SuperPathContained pathways About
    1Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    2Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics


    Find genes that share SuperPaths with CASQ1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CASQ1
        Calcium Regulation in the Cardiac Cell


    1 Reactome Pathway for CASQ1
        Stimuli-sensing channels

    1 PharmGKB Pathway for CASQ1
        Antiarrhythmic Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASQ1
    Interactions:

        GeneGlobe Interaction Network for CASQ1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CASQ1 (P314153 ENSP000003570584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP2K7O147333I2D: score=2 
    PRKCHENSP000003291274STRING: ENSP00000329127
    PRKCAENSP000002843844STRING: ENSP00000284384
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007029endoplasmic reticulum organization IEA--
    GO:0007519skeletal muscle tissue development IEA--
    GO:0009408response to heat IEA--
    GO:0010033response to organic substance IEA--
    GO:0010880regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ----

    Find genes that share ontologies with CASQ1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CASQ1

    1 HMDB Compound for CASQ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for CASQ1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 78.4 2 19398037 (1), 16409161 (1)
    calcium 49.4 9 8406504 (1), 20464711 (1), 16595676 (1), 19230141 (1) (see all 6)



    Find genes that share compounds with CASQ1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CASQ1 gene: 
    NM_001231.4  

    Unigene Cluster for CASQ1:

    Calsequestrin 1 (fast-twitch, skeletal muscle)
    Hs.632476  [show with all ESTs]
    Unigene Representative Sequence: NM_001231
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368078 ENST00000481081 ENST00000467691 ENST00000368079(uc010pja.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat CASQ1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CASQ1:
    hsa-miR-579 hsa-miR-323-3p hsa-miR-324-3p hsa-miR-3065-3p hsa-miR-3667-3p hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidCASQ1 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASQ1
      QuantiTect SYBR Green Assays in human, mouse, rat CASQ1
      QuantiFast Probe-based Assays in human, mouse, rat CASQ1

    Additional mRNA sequence: 

    AK300713.1 AK313250.1 BC022289.1 S73775.1 

    5 DOTS entries:

    DT.212675  DT.100765903  DT.121457423  DT.212676  DT.120841209 

    Selected AceView cDNA sequences (see all 76):

    BX500008 AL601303 BX091591 F30374 BC022289 AI141895 AA251985 AW780379 
    F21999 F26457 AI201842 F36894 BQ187486 BG997425 BX500844 AL601304 
    F29621 BG291605 NM_001231 BM719440 BP347391 F32998 AI351867 BI548254 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CASQ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTCTCCTG
    CASQ1 Expression
    About this image


    CASQ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Skeletal Muscle (Muscoskeletal System)
    CASQ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASQ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632476
        Custom PCR Arrays for CASQ1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASQ1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casq11 , 5 calsequestrin 11, 5 90.89(n)1
    94.59(a)1
      1 (79.54 cM)5
    123721  NM_009813.21  NP_033943.21 
     1722098945 
    lizard
    (Anolis carolinensis)
    Reptilia CASQ16
    calsequestrin 1 (fast-twitch, skeletal muscle)
    80(a)
    1 ↔ 1
    GL344023.1(59279-87422)
    African clawed frog
    (Xenopus laevis)
    Amphibia asph-prov2 Aspartyl beta-hydroxylase 77.11(n)    BC046947.1 
    zebrafish
    (Danio rerio)
    Actinopterygii casq1a1 calsequestrin 1a 68.66(n)
    66.76(a)
      445226  NM_001003620.2  NP_001003620.2 
    worm
    (Caenorhabditis elegans)
    Secernentea csq-11 csq-1 50.58(n)
    35.17(a)
      181563  NM_078037.4  NP_510438.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASQ1 gene
    CASQ22  
    1 SIMAP similar gene for CASQ1 using alignment to 2 protein entries:     CASQ1_HUMAN (see all proteins):
    CASQ2

    Find genes that share paralogs with CASQ1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASQ1 (see all 386)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1472272401,2
    --160158424(+) GCGGGC/TGCTGG 1 -- us2k10--------
    rs46568901,2
    C,F--160158425(+) CGGGCG/ACTGGA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1428375291,2
    C--160158466(+) GGCAAC/TGAGAG 1 -- us2k10--------
    rs1472592111,2
    C--160158477(+) GGAACA/GGGATG 1 -- us2k10--------
    rs1893345041,2
    --160158522(+) GGAGAG/TGGAAC 1 -- us2k10--------
    rs1807131111,2
    --160158583(+) GATTCA/CAGATG 1 -- us2k10--------
    rs1863568851,2
    --160158588(+) AAGATA/GGAACA 1 -- us2k10--------
    rs1148236391,2
    F--160158610(+) CCAGCG/ATCTCT 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1113977201,2
    C,F--160158630(+) TCTCCC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1157166721,2
    F--160158680(+) CCTAGA/TTCATC 1 -- us2k11Minor allele frequency- T:0.02NA 120

    HapMap Linkage Disequilibrium report for CASQ1 (160160285 - 160171676 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CASQ1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASQ1
    DNA2.0 Custom Variant and Variant Library Synthesis for CASQ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 114250    OMIM disorders: --

    2 diseases for CASQ1:    
    About MalaCards
    gas gangrene    malignant hyperthermia susceptibility

    6 diseases from the University of Copenhagen DISEASES database for CASQ1:
    Malignant hyperthermia     Myopathy     Gas gangrene     Heart disease
    Hyperthyroidism     Autoimmune thyroiditis

    Find genes that share disorders with CASQ1           About GenesLikeMe

    2 Novoseek inferred disease relationships for CASQ1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathy 36.7 1 20505833 (1)
    autoimmunity 28 2 20464711 (1), 16792674 (1), 20505833 (1)

    Genetic Association Database (GAD): CASQ1
    Human Genome Epidemiology (HuGE) Navigator: CASQ1 (5 documents)

    Export disorders for CASQ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CASQ1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with CASQ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene. (PubMed id 2321095)1, 2, 3 Fujii J.... Maclennan D.H. (Somat. Cell Mol. Genet. 1990)
    2. Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish. (PubMed id 15561962)1, 4, 9 Fu M....Shuldiner A.R. (Diabetes 2004)
    3. Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites. (PubMed id 17681849)1, 4, 9 SparsA...Andersen G. (Mol. Genet. Metab. 2007)
    4. Type 2 diabetes susceptibility genes on chromosome 1q21-24. (PubMed id 18269685)1, 4, 9 Hasstedt S.J....Elbein S.C. (Ann. Hum. Genet. 2008)
    5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PubMed id 8406504)1, 3, 9 Otsu K....MacLennan D.H. (Genomics 1993)
    6. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PubMed id 20682687)1, 4 Jablonski K.A....Florez J.C. (Diabetes 2010)
    7. Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner. (PubMed id 18452871)1, 4 Wilton S.B....Duff H.J. (Heart Rhythm 2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine. (PubMed id 7945294)1, 2 Bataille N.... Lestienne P. (Biochem. Biophys. Res. Commun. 1994)
    10. Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians. (PubMed id 15561963)1, 9 Das S.K....Elbein S.C. (Diabetes 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 844 HGNC: 1512 AceView: CASQ1 Ensembl:ENSG00000143318 euGenes: HUgn844
    ECgene: CASQ1 H-InvDB: CASQ1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CASQ1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Calsequestrin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASQ1 gene:
    Search GeneIP for patents involving CASQ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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