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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASQ1 Gene

protein-coding   GIFtS: 55
GCID: GC01P160160

Calsequestrin 1 (Fast-Twitch, Skeletal Muscle)


(Previous symbol: CASQ)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 achalasia, and gas gangrene, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CASQ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415 (See protein sequence)
Recommended Name: Calsequestrin-1 precursor  
Size: 396 amino acids; 45160 Da
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31415

  • CASQ1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASQ1 Protein Expression
    REFSEQ proteins: NP_001222.3  
    ENSEMBL proteins: 
     ENSP00000357057   ENSP00000418051   ENSP00000357058  
    Reactome Protein details: P31415
    Human Recombinant Protein Products for CASQ1: 
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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. 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

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

    CASQ1 for ontologies           About GeneDecksing



    CASQ1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CASQ1 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    CASQ1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CASQ1 for ontologies           About GeneDecksing


    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  muscle 

    CASQ1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASQ1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASQ1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASQ1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASQ1 

    miRNA
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    6 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    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
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    Sirion Biotech Customized lentivirus for stable overexpression of CASQ1 
                         Customized lentivirus expression plasmids for stable overexpression of CASQ1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CASQ1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    4Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CASQ1
        Calcium Regulation in the Cardiac Cell


    3        Reactome Pathways for CASQ1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport

    1 PharmGKB Pathway for CASQ1
        Antiarrhythmic Pathway, Pharmacodynamics


    CASQ1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASQ1

    1 Interacting protein for CASQ1 (P314153) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP2K7O147333I2D: score=2 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress ----
    GO:0007029endoplasmic reticulum organization IEA--
    GO:0007519skeletal muscle tissue development IEA--
    GO:0009408response to heat IEA--
    GO:0010033response to organic substance IEA--

    CASQ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CASQ1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CASQ1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    6 QIAGEN miScript miRNA 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASQ1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASQ1
    Sirion Biotech Customized lentivirus for stable overexpression of CASQ1 
                         Customized lentivirus expression plasmids for stable overexpression of CASQ1 
    Primer
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    OriGene qPCR primer pairs and template standards for CASQ1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASQ1
      QIAGEN 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 

    24/76 AceView cDNA sequences (see all 76):

    AL601303 F21999 F26457 BX500008 AI141895 BQ187486 F36894 AW780379 
    AA251985 AI201842 BC022289 BX091591 F30374 BG997426 BX419833 BX431194 
    BQ638691 F01019 F32998 AI351867 F20444 AL601304 AA197256 AI800873 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CASQ1 expression in normal human tissues (normalized intensities)      CASQ1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             vastus lateralis   
     
     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
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Melanocytes (Integumentary System)
             skin ; melanocytes   

    See CASQ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASQ1

    SOURCE GeneReport for Unigene cluster: Hs.632476
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CASQ1 gene from 5/13 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 90.57(n)1
    94.7(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)
    79(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 casq1b1 calsequestrin 1b 68.88(n)
    66.85(a)
      767757  NM_001076724.1  NP_001070192.1 
    worm
    (Caenorhabditis elegans)
    Secernentea csq-11 Protein CSQ-1 50.71(n)
    35.37(a)
      181563  NM_078037.3  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)
    About This Section
    Paralogs for CASQ1 gene
    CASQ22  
    1 SIMAP similar gene for CASQ1 using alignment to 2 protein entries:     CASQ1_HUMAN (see all proteins):
    CASQ2

    CASQ1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/386 SNPs in CASQ1 are shown (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: --
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 114250    OMIM disorders: --

    13 diseases for CASQ1:    About MalaCards
    achalasia    gas gangrene    resting heart rate    congenital heart defect
    malignant hyperthermia    hyperthyroidism    eye disease    muscular dystrophy
    autoimmune thyroiditis    graves' disease    myopathy    thyroiditis
    diabetes mellitus

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

    CASQ1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CASQ1 gene, integrated from 9 sources (see all 35):
    (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. (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. (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 Sparso T....Andersen G. (2007)
    4. Type 2 diabetes susceptibility genes on chromosome 1q21-24. (PubMed id 18269685)1, 4, 9 Hasstedt S.J....Elbein S.C. (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. (1993)
    6. Common variants in 40 genes assessed for diabetes inc idence and response to metformin and lifestyle intervention in the diabetes pre vention program. (PubMed id 20682687)1, 4 Jablonski K.A....Florez J.C. (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. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 844 HGNC: 1512 AceView: CASQ1 Ensembl:ENSG00000143318 euGenes: HUgn844
    ECgene: CASQ1 H-InvDB: CASQ1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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