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

CAPNS1 Gene

protein-coding   GIFtS: 60
GCID: GC19P036630

Calpain, Small Subunit 1


(Previous symbol: CAPN4)
Microbiology & Infectious Diseases Congress
  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
Calpain, Small Subunit 11 2     CALPAIN42
CAPN41 2 3 5     CANP2
Calcium-Activated Neutral Proteinase Small Subunit2 3     CANPS2
Calcium-Dependent Protease Small Subunit 12 3     Calcium-Dependent Protease, Small Subunit2
Calpain Regulatory Subunit2 3     Calpain 4, Small Subunit (30K)2
CDPS2 3     Calpain Small Subunit 12
CSS12 3     Calpain, Small Polypeptide2
CANP Small Subunit2 3     CAPNS3
30K2     Calcium-Dependent Protease Small Subunit3

External Ids:    HGNC: 14811   Entrez Gene: 8262   Ensembl: ENSG000001262477   OMIM: 1141705   UniProtKB: P046323   

Export aliases for CAPNS1 gene to outside databases

Previous GC identifers: GC19P037270 GC19P037079 GC19P041306 GC19P041322 GC19P033136


(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 CAPNS1 Gene:
Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have
been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and
oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small
subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I
and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been
identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CAPNS1 Gene: 
CAPNS1 (calpain, small subunit 1) is a protein-coding gene. Diseases associated with CAPNS1 include chronic neutrophilic leukemia, and myotonic dystrophy, and among its related super-pathways are nNOS Signaling in Skeletal Muscle and Integrin Pathway. GO annotations related to this gene include calcium-dependent cysteine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is CAPN6.

UniProtKB/Swiss-Prot: CPNS1_HUMAN, P04632
Function: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited
proteolysis of substrates involved in cytoskeletal remodeling and signal transduction

summary for CAPNS1 Gene:
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.
This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most
well-characterized. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa
regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure. Calpains are regulated
by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization
(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,
remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,
proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling
progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic
pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been
associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's
disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).

Gene Wiki entry for CAPNS1 Gene


(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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPNS1 gene promoter:
         SRF   CREB   AML1a   SRF (504 AA)   deltaCREB   Pax-2   Pax-2a   LCR-F1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPNS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAPNS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPNS1


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

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

CAPNS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPNS1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036630:  view genomic region     (about GC identifiers)

Start:
36,630,477 bp from pter      End:
36,641,255 bp from pter
Size:
10,779 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: CPNS1_HUMAN, P04632 (See protein sequence)
Recommended Name: Calpain small subunit 1  
Size: 268 amino acids; 28316 Da
Subunit: Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium,
the heterodimer dissociates (By similarity)
Subcellular location: Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma
membrane upon calcium binding (By similarity)
2 PDB 3D structures from and Proteopedia for CAPNS1:
1KFU (3D)        1KFX (3D)    
Secondary accessions: A8K0P1 Q8WTX3 Q96EW0

Explore the universe of human proteins at neXtProt for CAPNS1: NX_P04632

Explore proteomics data for CAPNS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04632

  • CAPNS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAPNS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001003962.1  NP_001740.1  

    ENSEMBL proteins: 
     ENSP00000246533   ENSP00000466601   ENSP00000468041   ENSP00000468591   ENSP00000465575  
     ENSP00000464849   ENSP00000466386   ENSP00000466113   ENSP00000474036   ENSP00000464903  
     ENSP00000474280   ENSP00000475159   ENSP00000475804  

    Human Recombinant Protein Products for CAPNS1: 
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    OriGene Protein Over-expression Lysate for CAPNS1
    OriGene MassSpec for CAPNS1 
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    Novus Biologicals CAPNS1 Proteins
    Novus Biologicals CAPNS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAPNS1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    CAPNS1 for ontologies           About GeneDecksing



    CAPNS1 Antibody Products: 
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    Novus Biologicals CAPNS1 Antibodies
    Abcam antibodies for CAPNS1
    Cloud-Clone Corp. Antibodies for CAPNS1 
    ThermoFisher Antibody for CAPNS1
    LSBio Antibodies in human, mouse, rat for CAPNS1 

    Assay Products for CAPNS1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAPNS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CAPNS1 
    Cloud-Clone Corp. CLIAs for CAPNS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P04632

    ProtoNet protein and cluster: P04632

    UniProtKB/Swiss-Prot: CPNS1_HUMAN, P04632
    Domain: The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also
    appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation
    of the heterodimer (By similarity)
    Domain: EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The
    fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by
    EF-embrace. The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to
    calcium is physiologically relevant
    Similarity: Contains 5 EF-hand domains


    CAPNS1 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: CPNS1_HUMAN, P04632
    Function: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited
    proteolysis of substrates involved in cytoskeletal remodeling and signal transduction

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10639123
         
    CAPNS1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Capns1):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     mortality/aging  muscle  respiratory system 

    CAPNS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CAPNS1: Capns1tm1Ujz Capns1tm1Pag Capns1tm2.1Pag

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAPNS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CAPNS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPNS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPNS1 

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPNS1:
    hsa-miR-30c-2* hsa-miR-124 hsa-miR-30c-1* hsa-miR-506 hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidCAPNS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for CAPNS1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CAPNS1

    Clone
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    OriGene ORF clones in mouse, rat for CAPNS1
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    GenScript: all cDNA clones in your preferred vector (see all 2): CAPNS1 (NM_001003962)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPNS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPNS1
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                         Customized lentivirus expression plasmids for stable overexpression of CAPNS1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPNS1


    (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 CAPNS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    Calpain Protease Regulates Cellular Mechanics0.31
    Caspase Cascade0.36
    2Integrin Pathway
    FAK1 Signaling0.67
    3Rho Family GTPases
    ERK Signaling0.61
    4Apoptosis Modulation and Signaling
    Apoptosis Modulation and Signaling0.38
    5Focal Adhesion
    Integrin-mediated cell adhesion0.38

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAPNS1
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    2 BioSystems Pathways for CAPNS1
        Apoptosis Modulation and Signaling
    Integrin-mediated cell adhesion


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAPNS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/40 Interacting proteins for CAPNS1 (P046321, 2, 3 ENSP000002465334) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN1P073842, 3, ENSP000002792474MINT-7234481 MINT-7234562 MINT-7234580 I2D: score=3 STRING: ENSP00000279247
    RASA1P209362, 3, ENSP000002743764MINT-7304956 MINT-7304983 MINT-7304902 I2D: score=1 STRING: ENSP00000274376
    ATP5J2P561342, 3, ENSP000002924754MINT-63892 I2D: score=5 STRING: ENSP00000292475
    DRG1Q9Y2952, 3, ENSP000003297154MINT-65798 I2D: score=5 STRING: ENSP00000329715
    GET4Q7L5D62, 3MINT-65700 I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008284positive regulation of cell proliferation TAS8702541

    CAPNS1 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

    CAPNS1 for compounds           About GeneDecksing

    EMD Millipore small molecules for CAPNS1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CAPNS1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
    PD 150606Cell permeable calpain inhibitor[179528-45-1]
    MG 132Proteasome and calpain inhibitor. Inhibits NF-kappaB activation[133407-82-6]
    MG 101Calpain inhibitor; activates p53-dependent apoptosis[110044-82-1]

    1 HMDB Compound for CAPNS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for CAPNS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PD150606-- --target--10592235

    5 Novoseek inferred chemical compound relationships for CAPNS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calpeptin 76.5 1 12851726 (1)
    leupeptin 51.8 1 2115174 (1)
    cysteine 30.5 4 11943592 (1), 7847693 (1), 2115174 (1)
    calcium 29 18 9605476 (2), 2351746 (1), 2156356 (1), 10360947 (1) (see all 10)
    serine 0 2 2115174 (1), 12469182 (1)

    Search CenterWatch for drugs/clinical trials and news about CAPNS1 / CPNS1

    (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 CAPNS1 gene (2 alternative transcripts): 
    NM_001003962.1  NM_001749.2  

    Unigene Cluster for CAPNS1:

    Calpain, small subunit 1
    Hs.515371  [show with all ESTs]
    Unigene Representative Sequence: BC011903
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246533(uc002odi.1 uc002odk.3 uc002odj.3 uc002odl.3)
    ENST00000589146 ENST00000587718 ENST00000592483 ENST00000590874 ENST00000588815
    ENST00000591041 ENST00000588780 ENST00000590049 ENST00000586851 ENST00000590211
    ENST00000592354 ENST00000586963 ENST00000589162
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPNS1:
    hsa-miR-30c-2* hsa-miR-124 hsa-miR-30c-1* hsa-miR-506 hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidCAPNS1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPNS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPNS1
    Sirion Biotech Customized lentivirus for stable overexpression of CAPNS1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPNS1

    Additional mRNA sequence: 

    AK289606.1 AY007141.1 BC000592.2 BC007779.2 BC011903.2 BC017308.2 BC018931.2 BC021933.1 
    BC023643.2 BC064998.1 BT009775.1 X04106.1 

    24/37 DOTS entries (see all 37):

    DT.85103663  DT.100670778  DT.101987068  DT.121499682  DT.100670775  DT.95193989  DT.91960890  DT.95194082 
    DT.121499709  DT.92463918  DT.95193981  DT.121499694  DT.100670777  DT.100864254  DT.92463902  DT.100034963 
    DT.100642817  DT.100670784  DT.95193987  DT.100670779  DT.100670780  DT.100670783  DT.100867886  DT.101987526 

    24/1083 AceView cDNA sequences (see all 1083):

    BQ673741 CD516417 BC011903 AA366645 BQ893914 CF127167 BM991524 BM765619 
    BQ068022 AW069348 BI011618 BC007779 AA249226 BQ673682 BM753144 BE251416 
    AI922016 AA307669 AA318673 BU173404 CD612781 CR616510 F34617 CF127879 

    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

    CAPNS1 expression in normal human tissues (normalized intensities)      CAPNS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCAGTTGC
    CAPNS1 Expression
    About this image


    CAPNS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer

    See CAPNS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAPNS1

    SOURCE GeneReport for Unigene cluster: Hs.515371
        SABiosciences Expression via Pathway-Focused PCR Arrays including CAPNS1: 
              Nitric Oxide Signaling Pathway in human mouse rat
              Necrosis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPNS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPNS1

    (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 chordates.

    Orthologs for CAPNS1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capns11 , 5 calpain, small subunit 11, 5 88.51(n)1
    95.51(a)1
      7 (17.31 cM)5
    123361  NM_009795.31  NP_033925.21 
     301869425 
    lizard
    (Anolis carolinensis)
    Reptilia CAPNS16
    Uncharacterized protein
    82(a)
    1 → many
    GL343635.1(79657-93770)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238452 Xenopus laevis transcribed sequence with moderate similarity more 74.27(n)    BQ731366.1 
    zebrafish
    (Danio rerio)
    Actinopterygii capns12 calpain, small subunit 1 73.64(n)   317736  BC054926.1 


    ENSEMBL Gene Tree for CAPNS1 (if available)
    TreeFam Gene Tree for CAPNS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPNS1 gene
    CAPN62  CAPN82  CAPN142  CAPN132  CAPN12  CAPN52  CAPN92  CAPNS22  
    CAPN22  CAPN32  CAPN122  CAPN112  CAPN102  
    13 SIMAP similar genes for CAPNS1 using alignment to 10 protein entries:     CPNS1_HUMAN (see all proteins):
    CAPNS2    CAPN3    CAPN1    CAPN11    CAPN2    CAPN9
    CAPN13    CAPN14    CAPN8    CAPN12    SRI    PDCD6
    GCA

    CAPNS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CAPNS1
    PGOHUM00000244788


    (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

    10/336 SNPs in CAPNS1 are shown (see all 336)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1824049671,2
    --36628919(+) ATTTAC/TTTATT 2 -- us2k10--------
    rs1859398741,2
    --36628930(+) GGAGAC/GGGAGT 2 -- us2k10--------
    rs1906019421,2
    C--36629034(+) CTCCCA/GAGTAG 2 -- us2k10--------
    rs1426637541,2
    --36629062(+) CACCAC/TCACAT 2 -- us2k10--------
    rs20918251,2
    C,F,A--36629101(+) acaggT/Gtttct 2 -- us2k17Minor allele frequency- G:0.31NA WA CSA 13
    rs569092821,2
    --36629129(+) GTCTCC/GAACTC 2 -- us2k10--------
    rs1833735641,2
    C--36629132(+) TCGAAC/TTCCCG 2 -- us2k10--------
    rs1892271461,2
    --36629137(+) CTCCCA/GACCTC 2 -- us2k10--------
    rs799953421,2
    C--36629385(+) GAGACA/GAGGTC 2 -- us2k13Minor allele frequency- G:0.08NA EA 242
    rs2018378131,2
    --36629505(+) TTAAG-/TTTTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAPNS1 (36630477 - 36641255 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CAPNS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3855n71CNV Loss21882294
    dgv3854n71CNV Loss21882294

    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: 114170    OMIM disorders: --

    14 diseases for CAPNS1:    About MalaCards
    chronic neutrophilic leukemia    myotonic dystrophy    chickenpox    gastric cancer
    muscular dystrophy    limb-girdle muscular dystrophy    alzheimer's disease    neuropathy
    hepatitis b    leukemia    hepatocellular carcinoma    lung cancer
    hepatitis    neuronitis


    CAPNS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for CAPNS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia t-cell 38.4 1 7663378 (1)
    tumors 2.58 3 12569370 (2), 12851726 (1)
    leukemia 0 1 7663378 (1)

    Genetic Association Database (GAD): CAPNS1
    Human Genome Epidemiology (HuGE) Navigator: CAPNS1 (3 documents)

    Export disorders for CAPNS1 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 CAPNS1 gene, integrated from 9 sources (see all 88):
    (articles sorted by number of sources associating them with CAPNS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene organization of the small subunit of human calcium-activated neutral protease. (PubMed id 3024120)1, 2, 3 Miyake S.... Suzuki K. (1986)
    2. Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. (PubMed id 3016651)1, 2, 3 Ohno S.... Suzuki K. (1986)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    5. 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)
    6. The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium. (PubMed id 10639123)1, 2 Strobl S.... Bode W. (2000)
    7. NRF-1, and AP-1 regulate the promoter of the human calpain small subunit 1 (CAPNS1) gene. (PubMed id 18234454)1, 9 Asangani I.A....Allgayer H. (2008)
    8. Hepatitis B virus X protein upregulates expression of calpain small subunit 1 via nuclear factor-kappaB/p65 in hepatoma cells. (PubMed id 20419804)1, 9 Zhang F....Zhang X. (2010)
    9. An integrated expression phenotype mapping approach d efines common variants in LEP, ALOX15 and CAPNS1 associated with induction of I L-6. (PubMed id 19942621)1, 9 Fairfax B.P....Knight J.C. (2010)
    10. The major calpain isozymes are long-lived proteins. Design of an antisense strategy for calpain depletion in cultured cells. (PubMed id 8702541)1, 9 Zhang W....Mellgren R.L. (1996)

    (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: 826 HGNC: 1481 AceView: CAPNS1 Ensembl:ENSG00000126247 euGenes: HUgn826
    ECgene: CAPNS1 H-InvDB: CAPNS1

    (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 CAPNS1 Pharmacogenomics, SNPs, Pathways
    CaBPhttp://structbio.vanderbilt.edu/cabp_database/general/prot_pages/calpain.html
    Calpains homepagehttp://ag.arizona.edu/calpains/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/capns1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CAPNS1 gene:
    Search GeneIP for patents involving CAPNS1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in CAPNS1 promoter
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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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