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CAPN1 Gene

protein-coding   GIFtS: 70
GCID: GC11P064950

Calpain 1, (Mu/I) Large Subunit

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(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
Calpain 1, (Mu/I) Large Subunit1 2     CANP2
Calcium-Activated Neutral Proteinase 12 3     CANP12
Calpain Mu-Type2 3     Calpain, Large Polypeptide L12
Calpain-1 Large Subunit2 3     Calpain-1 Catalytic Subunit2
Cell Proliferation-Inducing Gene 30 Protein2 3     Cell Proliferation-Inducing Protein 302
CANPL12 3     micromolar-calpain2
CANP 12 3     muCL2
muCANP2 3     Micromolar-calpain3
EC 3.4.22.523 8     EC 3.4.228

External Ids:    HGNC: 14761   Entrez Gene: 8232   Ensembl: ENSG000000142167   OMIM: 1142205   UniProtKB: P073843   

Export aliases for CAPN1 gene to outside databases

Previous GC identifers: GC11P067465 GC11P066630 GC11P065198 GC11P064724 GC11P064705 GC11P061278


(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 CAPN1 Gene:
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The
mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes
consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory
subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants
encoding two different isoforms have been found for this gene. (provided by RefSeq, Nov 2010)

GeneCards Summary for CAPN1 Gene:
CAPN1 (calpain 1, (mu/I) large subunit) is a protein-coding gene. Diseases associated with CAPN1 include meningothelial meningioma, and brain ischemia. 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: CAN1_HUMAN, P07384
Function: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved
in cytoskeletal remodeling and signal transduction

summary for CAPN1 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 CAPN1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN1 gene promoter:
         SREBP-1c   p300   Lmo2   LCR-F1   SREBP-1b   Gfi-1   PPAR-gamma1   SREBP-1a   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN1 promoter sequence
   Search Chromatin IP Primers for CAPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN1


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

CAPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P064950:  view genomic region     (about GC identifiers)

Start:
64,948,037 bp from pter      End:
64,979,477 bp from pter
Size:
31,441 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CAN1_HUMAN, P07384 (See protein sequence)
Recommended Name: Calpain-1 catalytic subunit  
Size: 714 amino acids; 81890 Da
Cofactor: Binds 4 calcium ions
Subunit: Forms a heterodimer with a small (regulatory) subunit (CAPNS1)
2 PDB 3D structures from and Proteopedia for CAPN1:
1ZCM (3D)        2ARY (3D)    
Secondary accessions: Q2TTR0 Q6DHV4

Explore the universe of human proteins at neXtProt for CAPN1: NX_P07384

Explore proteomics data for CAPN1 at MOPED

Post-translational modifications: 

  • Undergoes calcium-induced successive autoproteolytic cleavages that generate a membrane-bound 78 kDa active form
    and an intracellular 75 kDa active form. Calpastatin reduces with high efficiency the transition from 78 kDa to
    75 kDa calpain forms1
  • Ubiquitination2 at Lys20, Lys365, Lys398, Lys461, Lys583
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CAPN1 (P07384) (see all 39)
     LRFFSEK  GATRTDI  YEALSGG  LVKGHAY 


    See CAPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001185797.1  NP_001185798.1  NP_005177.2  

    ENSEMBL proteins: 
     ENSP00000435847   ENSP00000432512   ENSP00000435272   ENSP00000433823   ENSP00000431528  
     ENSP00000431686   ENSP00000434176   ENSP00000279247   ENSP00000436693   ENSP00000431793  
     ENSP00000436002   ENSP00000435092   ENSP00000431172   ENSP00000435198   ENSP00000431984  
     ENSP00000433366  
    Reactome Protein details: P07384

    CAPN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CAPN1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CAPN1
    GenScript Custom Purified and Recombinant Proteins Services for CAPN1
    Novus Biologicals CAPN1 Proteins
    Novus Biologicals CAPN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CAPN1
    Cloud-Clone Corp. Proteins for CAPN1

    CAPN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CAPN1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CAPN1  (calpain 1)
    OriGene Antibodies for CAPN1
    OriGene Custom Antibody Services for CAPN1
    Novus Biologicals CAPN1 Antibodies
    Abcam antibodies for CAPN1
    Cloud-Clone Corp. Antibodies for CAPN1
    ThermoFisher Antibody for CAPN1
    LSBio Antibodies in human, mouse, rat for CAPN1

    CAPN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CAPN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAPN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CAPN1
    Cloud-Clone Corp. CLIAs for CAPN1


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

    Selected InterPro protein domains (see all 8):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR001300 Peptidase_C2_calpain_cat
     IPR018247 EF_Hand_1_Ca_BS
     IPR000169 Pept_cys_AS

    Graphical View of Domain Structure for InterPro Entry P07384

    ProtoNet protein and cluster: P07384

    1 Blocks protein domain: IPB001300 Calpain cysteine protease (C2) family signature

    UniProtKB/Swiss-Prot: CAN1_HUMAN, P07384
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain
    Similarity: Contains 4 EF-hand domains


    CAPN1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAN1_HUMAN, P07384
    Function: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved
    in cytoskeletal remodeling and signal transduction
    Catalytic activity: Broad endopeptidase specificity
    Enzyme regulation: Activated by micromolar concentrations of calcium and inhibited by calpastatin

         Genatlas biochemistry entry for CAPN1:
    calpain,large polypeptide L1,calcium dependent neutral cysteine proteinase,papain superfamily,mu type (not mutated
    in MEN1)

         Enzyme Numbers (IUBMB): EC 3.4.22.521 2 EC 3.4.222

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity ISS--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI19712109
         
    CAPN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CAPN1:
     Decreased focal adhesion (FA)   Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Capn1):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  normal 

    CAPN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Capn1tm1Ahc for CAPN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAPN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CAPN1:
    hsa-mir-34a-5p (MIRT025341), hsa-mir-1 (MIRT023560)

    Block miRNA regulation of human, mouse, rat CAPN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPN1 (see all 9):
    hsa-miR-3163 hsa-miR-140-5p hsa-miR-22 hsa-miR-4297 hsa-miR-1301 hsa-miR-1205 hsa-miR-124 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCAPN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CAPN1
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CAPN1

    Clone
    Products:
         
    OriGene clones in human, mouse for CAPN1 (see all 8)
    OriGene ORF clones in mouse, rat for CAPN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CAPN1 (NM_005186)
    Sino Biological Human cDNA Clone for CAPN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CAPN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CAPN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN1


    (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
    CAN1_HUMAN, P07384: Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon Ca(2+) binding
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    cytoskeleton2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IDA12150984
    GO:0005886plasma membrane IDA12150984
    GO:0016020membrane IDA14559243

    CAPN1 for ontologies           About GeneDecksing


    (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 CAPN1 About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    Calpain Protease Regulates Cellular Mechanics0.31
    Caspase Cascade0.36
    3Focal adhesion
    Focal Adhesion0.65
    Integrin-mediated cell adhesion0.38
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    5Integrin Pathway
    FAK1 Signaling0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CAPN1 (see all 7)
        Caspase Cascade
    ERK Signaling
    Alzheimers Disease Pathway
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling

    2 Cell Signaling Technology (CST) Pathways for CAPN1
        Neuroscience
    Protein Stability

    1 Tocris Bioscience Pathway for CAPN1
        Apoptosis Pathway

    5 BioSystems Pathways for CAPN1
        Focal Adhesion
    Integrin-mediated cell adhesion
    Integrated Pancreatic Cancer Pathway
    Alzheimers Disease
    Signaling events mediated by PTP1B


    1 Reactome Pathway for CAPN1
        Degradation of the extracellular matrix


    3 Kegg Pathways  (Kegg details for CAPN1):
        Protein processing in endoplasmic reticulum
    Apoptosis
    Alzheimer's disease


    CAPN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAPN1: 
              Alzheimer's Disease in human mouse rat
              Necrosis in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CAPN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CAPN1 (P073841, 2, 3 ENSP000002792474) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPNS1P046322, 3, ENSP000002465334MINT-7234481 MINT-7234562 MINT-7234580 I2D: score=3 STRING: ENSP00000246533
    PTPN1P180311, 2, 3, ENSP000003606834EBI-1542113,EBI-968788 MINT-6793387 MINT-7234481 MINT-7234562 MINT-7234580 I2D: score=2 STRING: ENSP00000360683
    EZRP153111, 2, ENSP000003389344EBI-1542113,EBI-1056902 MINT-8385943 MINT-8385967 STRING: ENSP00000338934
    COL1A1P024523, ENSP000002259644I2D: score=3 STRING: ENSP00000225964
    COL3A1P024613, ENSP000003044084I2D: score=3 STRING: ENSP00000304408
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ISS--
    GO:0008284positive regulation of cell proliferation TAS8702541
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0032801receptor catabolic process IEA--

    CAPN1 for ontologies           About GeneDecksing



    (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
       Enzo Life Sciences drugs & compounds for CAPN1
    9 ApexBio Compounds for CAPN1     About this table
    CompoundAction CAS #
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    Calpain Inhibitor I, ALLNA cell-permeable inhibitor of calpain I, calpain II, cathepsin B, and cathepsin L. [110044-82-1]
    Calpain Inhibitor II, ALLMA cell-permeable inhibitor of calpain 1 and calpain 2[136632-32-1]
    CalpeptinPotent, cell-permeable inhibitor of calpain[117591-20-5]
    E-64Irriversible cysteine protease inhibitor[66701-25-5]
    MDL 28170Potent, selective inhibitor of calpain and cathepsin B[88191-84-8]
    MG-132Proteasome and calpain inhibitor[133407-82-6]
    PD 150606Selective, cell-permeable non-peptide calpain inhibitor[179528-45-1]
    Z-FA-FMKAn inhibitor of cysteine proteases, such as cathepsin B--

    Compounds for CAPN1 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 CAPN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    3 DrugBank Compounds for CAPN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (2S)-4-METHYL-2-(3-PHENYLTHIOUREIDO)-N-((3S)-TETRAHYDRO-2-HYDROXY-3-FURANYL)PENTANAMIDE-- --target--10592235
    N-[N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-Butyl]-Guanidine-- --target--10592235
    CBZ-LEU-LEU-TYR-CH2F-- --target----

    Selected Novoseek inferred chemical compound relationships for CAPN1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calpeptin 85.5 8 12573450 (1), 18057999 (1), 8032318 (1), 8638921 (1) (see all 5)
    n-acetylleucylleucylnorleucinal 72.7 1 12670502 (1)
    e 64d 67.7 1 11264351 (1)
    cysteine 61.9 15 18501725 (2), 11943592 (1), 18694642 (1), 12072431 (1) (see all 11)
    calcium 55.3 87 16107503 (5), 7961733 (4), 9210524 (3), 15358198 (3) (see all 41)
    lactacystin 40.1 1 12670502 (1)
    ritonavir 35 6 17855594 (2), 15629450 (1), 14555228 (1)
    ionomycin 32.6 4 7982901 (2), 12393869 (1), 16081284 (1)
    phosphatidylserine 25.6 2 7607311 (1)
    mg 132 25.5 1 1734892 (1)



    CAPN1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for CAPN1 gene (3 alternative transcripts): 
    NM_001198868.1  NM_001198869.1  NM_005186.3  

    Unigene Cluster for CAPN1:

    Calpain 1, (mu/I) large subunit
    Hs.502842  [show with all ESTs]
    Unigene Representative Sequence: NM_001198868
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000528396 ENST00000529133 ENST00000533820(uc009yqd.2) ENST00000527739
    ENST00000526966 ENST00000533129 ENST00000524773(uc001odf.2) ENST00000530442
    ENST00000279247(uc001odg.2 uc010roa.2) ENST00000528739 ENST00000532285
    ENST00000527189 ENST00000527469 ENST00000534373 ENST00000526954 ENST00000531068
    ENST00000527699 ENST00000533909

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CAPN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPN1 (see all 9):
    hsa-miR-3163 hsa-miR-140-5p hsa-miR-22 hsa-miR-4297 hsa-miR-1301 hsa-miR-1205 hsa-miR-124 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCAPN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CAPN1
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN1
    Clone
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    OriGene clones in human, mouse for CAPN1 (see all 8)
    OriGene ORF clones in mouse, rat for CAPN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CAPN1 (NM_005186)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CAPN1
    OriGene qSTAR qPCR primer pairs in human, mouse for CAPN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPN1
      QuantiTect SYBR Green Assays in human, mouse, rat CAPN1
      QuantiFast Probe-based Assays in human, mouse, rat CAPN1

    Additional mRNA sequence: 

    AK022319.1 AK025380.1 AK097277.1 AK301538.1 AK311001.1 AK315556.1 AY550975.1 BC008751.2 
    BC015091.2 BC017200.2 BC075862.1 NR_040008.1 X04366.1 

    Selected DOTS entries (see all 38):

    DT.447394  DT.97864406  DT.86840162  DT.75199128  DT.100846351  DT.95189131  DT.100846348  DT.100846341 
    DT.95365707  DT.100846346  DT.95341266  DT.95189126  DT.120728821  DT.100846343  DT.100846354  DT.120728803 
    DT.91773350  DT.120728779  DT.120728788  DT.100712092  DT.120728851  DT.95189138  DT.120728832  DT.75199127 

    Selected AceView cDNA sequences (see all 670):

    AL121206 BG170963 BM824606 CB147448 BU185889 BM975918 BG292133 CD620043 
    BM836441 BI820433 CA421990 CD515604 AI610224 BP348944 BQ024432 T28769 
    AW778834 BM750275 BQ060759 BI964852 AU131076 BQ063309 BF810842 AW300716 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPN1 (see all 23)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                      -     -               
    SP3:                                            -     -     -     -     -     -     -                                                     -     -               
    SP4:              -     -     -     -     -     -     -     -     -     -     -     -                                                     -     -               
    SP5:                                                                                                                                                            

    ExUns: 12d · 12e ^ 13a · 13b ^ 14a · 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^
    SP1:                                                                                                                                      -     -               
    SP2:                                            -     -                                                                                                         
    SP3:                                            -     -                                                                                                         
    SP4:                                                                                                                                                            
    SP5:                                            -     -                                   -     -                                                               

    ExUns: 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for CAPN1

    (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)
    About This Section

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    CAPN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCGGGAT
    CAPN1 Expression
    About this image


    CAPN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Epidermis (Integumentary System)
             Spinous Keratinocytes Stratified Epidermis
     
     Colon (Gastrointestinal Tract)
     
     Lung (Respiratory System)
    CAPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502842

    UniProtKB/Swiss-Prot: CAN1_HUMAN, P07384
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAPN1: 
              Alzheimer's Disease in human mouse rat
              Necrosis in human mouse rat
              Cell Motility in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN1

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for CAPN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn11 , 5 calpain 11, 5 85.97(n)1
    89.34(a)1
      19 (4.34 cM)5
    123331  NM_001110504.11  NP_001103974.11 
     59885465 
    chicken
    (Gallus gallus)
    Aves CAPN11 calpain 1, (mu/I) large subunit 77.92(n)
    82.07(a)
      693249  NM_001044672.1  NP_001038137.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN16
    calpain 1, (mu/I) large subunit
    85(a)
    1 ↔ 1
    GL343994.1(163047-198614)
    African clawed frog
    (Xenopus laevis)
    Amphibia capn1-prov2 calpain 1, (mu/I) large subunit 76.06(n)    BC044317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.171162 Danio rerio calpain 1 mRNA, complete cds 77.37(n)    AF282675.1 


    ENSEMBL Gene Tree for CAPN1 (if available)
    TreeFam Gene Tree for CAPN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for CAPN1 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN52  CAPN92  CAPN32  
    CAPNS22  CAPN22  CAPN122  CAPN112  CAPN102  
    13 SIMAP similar genes for CAPN1 using alignment to 11 protein entries:     CAN1_HUMAN (see all proteins):
    CAPN2    CAPN8    CAPN11    CAPNS1    CAPN9    CAPNS2
    CAPN3    CAPN14    CAPN12    SRI    CAPN13    CAPN6
    GCA

    CAPN1 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), 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 CAPN1 (see all 735)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889899301,2
    --64946805(+) GTGTAG/TGACAG 1 -- us2k10--------
    rs11959681,2
    C,F,A,H--64946858(+) atggtC/Tgatct 1 -- us2k123Minor allele frequency- T:0.46NS EA NA WA CSA 2521
    rs1920979191,2
    --64947001(+) GAAGTG/TTCTGT 1 -- us2k10--------
    rs1475693161,2
    --64947037(+) AGGCGC/TGGTGG 1 -- us2k10--------
    rs1420586181,2
    C--64947101(+) GTCAGG/TAGTTT 1 -- us2k10--------
    rs1836625041,2
    --64947118(+) AGCTTA/GGCTAA 1 -- us2k10--------
    rs1873930301,2
    --64947125(+) CTAACA/GTGGTG 1 -- us2k10--------
    rs1915206631,2
    --64947196(+) CCCAGC/TTACTG 2 -- us2k10--------
    rs2013060261,2
    C--64947215(+) GAGGC-/AGGAGAAT 2 -- us2k10--------
    rs128003391,2
    C,F,A--64947240(+) ggaggC/Tggagg 2 -- us2k14Minor allele frequency- T:0.38NA 8

    HapMap Linkage Disequilibrium report for CAPN1 (64948037 - 64979477 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CAPN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509418CNV Insertion20534489
    nsv832190CNV Loss17160897
    nsv897713CNV Loss21882294
    nsv526181CNV Gain19592680

    Site Specific Mutation Identification with 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

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    OMIM gene information: 114220    OMIM disorders: --

    Selected diseases for CAPN1 (see all 46):    
    About MalaCards
    meningothelial meningioma    brain ischemia    wermer syndrome    progressive myoclonus epilepsy
    tauopathy    meningioma    myoclonus epilepsy    traumatic brain injury
    hereditary spastic paraplegia    alzheimer's disease    muscular dystrophy    brain injury
    congestive heart failure    ischemia    paraplegia    mucoepidermoid carcinoma
    multiple endocrine neoplasia    myoclonus    protein s deficiency    vaginitis

    2 diseases from the University of Copenhagen DISEASES database for CAPN1:
    Progressive myoclonus epilepsy     Mucoepidermoid carcinoma

    CAPN1 for disorders           About GeneDecksing


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

    Selected Novoseek inferred disease relationships for CAPN1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brain ischemia 26.8 1 10072294 (1)
    alzheimers disease 5.82 5 8737608 (1), 8622780 (1), 18396356 (1), 19041242 (1)
    associated conditions 0.549 1 7982901 (1)
    carcinoma squamous cell 0 3 12635142 (1), 7982901 (1)
    stroke 0 3 18396356 (1), 19041242 (1)
    meningioma 0 4 11147878 (2), 11745202 (1)
    ischemia 0 2 17514421 (1), 17196166 (1)
    necrosis 0 2 16574073 (1), 17180042 (1)
    breast cancer 0 3 15358198 (1), 12750552 (1), 16081284 (1)
    tumors 0 2 16574073 (1), 17180042 (1)


    Export disorders for CAPN1 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 CAPN1 gene, integrated from 10 sources (see all 338):
    (articles sorted by number of sources associating them with CAPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete amino acid sequence of the large subunit of the low-Ca2+- requiring form of human Ca2+-activated neutral protease (muCANP) deduced from its cDNA sequence. (PubMed id 3017764)1, 2, 3 Aoki K.... Suzuki K. (FEBS Lett. 1986)
    2. Four genes for the calpain family locate on four distinct human chromosomes. (PubMed id 2209092)1, 3, 9 Ohno S....Suzuki K. (Cytogenet. Cell Genet. 1990)
    3. 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)
    4. A novel member of the calcium-dependent cysteine protease family. (PubMed id 2400579)1, 2 Sorimachi H.... Suzuki K. (Biol. Chem. Hoppe-Seyler 1990)
    5. Functional dissection of human protease mu-calpain in cell migration using RNAi. (PubMed id 16697376)1, 9 Wu M....Shen S.H. (FEBS Lett. 2006)
    6. mu-Calpain and calpain-3 are not autolyzed with exhaustive exercise in humans. (PubMed id 16107503)1, 9 Murphy R.M....Lamb G.D. (Am. J. Physiol., Cell Physiol. 2006)
    7. Cleavage of integrin by mu-calpain during hypoxia in human endometrial cells. (PubMed id 15663601)1, 9 Aoyama K....Suzumori K. (Am. J. Reprod. Immunol. 2004)
    8. Site-directed mutagenesis of alpha II spectrin at codon 1175 modulates its mu-calpain susceptibility. (PubMed id 8993318)1, 9 Stabach P.R.... Morrow J.S. (Biochemistry 1997)
    9. Platelet sarcoplasmic endoplasmic reticulum Ca2+-ATPase and mu-calpain activity are altered in type 2 diabetes mellitus and restored by rosiglitazone. (PubMed id 18071073)1, 9 Randriamboavonjy V....Fleming I. (Circulation 2008)
    10. The PEST domain of IkappaBalpha is necessary and sufficient for in vitro degradation by mu-calpain. (PubMed id 10521480)1, 9 Shumway S.D....Miyamoto S. (J. Biol. Chem. 1999)

    (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: 823 HGNC: 1476 AceView: CAPN1 Ensembl:ENSG00000014216 euGenes: HUgn823
    ECgene: CAPN1 Kegg: 823 H-InvDB: CAPN1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CAPN1 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/capn1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CAPN1 gene:
    Search GeneIP for patents involving CAPN1

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



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