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    Capn3 calpain 3 [ Mus musculus (house mouse) ]

    Gene ID: 12335, updated on 9-Dec-2024

    Summary

    Official Symbol
    Capn3provided by MGI
    Official Full Name
    calpain 3provided by MGI
    Primary source
    MGI:MGI:107437
    See related
    Ensembl:ENSMUSG00000079110 AllianceGenome:MGI:107437
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p94; Lp82; Capa3; Capa-3
    Summary
    Enables calcium-dependent cysteine-type endopeptidase activity; metal ion binding activity; and molecular adaptor activity. A structural constituent of muscle. Involved in several processes, including G1 to G0 transition involved in cell differentiation; positive regulation of satellite cell activation involved in skeletal muscle regeneration; and regulation of DNA-templated transcription. Acts upstream of or within sarcomere organization. Located in cytosol and plasma membrane. Part of protein-containing complex. Is expressed in several structures, including brain; eye; heart; and musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2A. Human ortholog(s) of this gene implicated in autosomal dominant limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy type 2A; and muscular dystrophy. Orthologous to human CAPN3 (calpain 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thymus adult (RPKM 10.1), genital fat pad adult (RPKM 5.2) and 12 other tissues See more
    Orthologs
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    Genomic context

    See Capn3 in Genome Data Viewer
    Location:
    2 E5; 2 60.31 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120294074..120335400)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (120463593..120504919)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene VPS39 HOPS complex subunit Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:120178706-120178815 Neighboring gene transmembrane protein 87A Neighboring gene STARR-positive B cell enhancer ABC_E10133 Neighboring gene STARR-positive B cell enhancer ABC_E9071 Neighboring gene glucosidase, alpha; neutral C Neighboring gene RIKEN cDNA 4931402G19 gene Neighboring gene STARR-seq mESC enhancer starr_05508 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:120308865-120309066 Neighboring gene STARR-seq mESC enhancer starr_05509 Neighboring gene zinc finger protein 106 Neighboring gene STARR-seq mESC enhancer starr_05510 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:120393240-120393349 Neighboring gene STARR-seq mESC enhancer starr_05511 Neighboring gene synaptosomal-associated protein 23 Neighboring gene leucine rich repeat containing 57

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: Ganc

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding PubMed 
    enables calcium-dependent cysteine-type endopeptidase activity  
    enables calcium-dependent cysteine-type endopeptidase activity PubMed 
    enables calcium-dependent cysteine-type endopeptidase activity  
    enables catalytic activity  
    enables catalytic activity  
    enables enzyme binding  
    enables identical protein binding  
    enables ligase regulator activity  
    enables ligase regulator activity  
    enables molecular adaptor activity PubMed 
    enables peptidase activity  
    enables peptidase activity  
    enables protein binding PubMed 
    enables signaling receptor binding  
    enables sodium ion binding PubMed 
    enables structural constituent of muscle PubMed 
    enables titin binding  
    enables titin binding  
    Items 1 - 25 of 44
    Process Evidence Code Pubs
    involved_in G1 to G0 transition involved in cell differentiation PubMed 
    involved_in calcium-dependent self proteolysis  
    involved_in calcium-dependent self proteolysis  
    involved_in cellular response to calcium ion PubMed 
    involved_in cellular response to salt stress PubMed 
    involved_in muscle structure development PubMed 
    acts_upstream_of_or_within myofibril assembly PubMed 
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of protein sumoylation  
    involved_in negative regulation of protein sumoylation  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity  
    involved_in positive regulation of proteolysis PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol PubMed 
    involved_in positive regulation of satellite cell activation involved in skeletal muscle regeneration PubMed 
    involved_in programmed cell death PubMed 
    involved_in protein catabolic process  
    involved_in protein catabolic process  
    involved_in protein destabilization  
    involved_in protein destabilization  
    involved_in protein localization to membrane PubMed 
    involved_in protein-containing complex assembly PubMed 
    involved_in proteolysis  
    acts_upstream_of_or_within proteolysis PubMed 
    involved_in proteolysis PubMed 
    involved_in proteolysis  
    involved_in regulation of canonical NF-kappaB signal transduction PubMed 
    involved_in regulation of canonical NF-kappaB signal transduction  
    involved_in regulation of catalytic activity  
    involved_in regulation of catalytic activity  
    involved_in regulation of myoblast differentiation PubMed 
    involved_in response to calcium ion  
    involved_in response to calcium ion  
    involved_in response to muscle activity  
    involved_in response to muscle activity  
    acts_upstream_of_or_within sarcomere organization PubMed 
    involved_in self proteolysis  
    involved_in self proteolysis  
    involved_in sodium-dependent self proteolysis  
    Items 1 - 25 of 44
    Component Evidence Code Pubs
    located_in T-tubule  
    located_in T-tubule  
    located_in Z disc  
    located_in Z disc  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytoplasm  
    located_in cytosol PubMed 
    located_in myofibril  
    located_in myofibril  
    located_in nucleolus  
    located_in nucleolus  
    located_in nucleus  
    located_in nucleus  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    part_of protein-containing complex PubMed 

    General protein information

    Preferred Names
    calpain-3
    Names
    CANP 3
    calcium-activated neutral proteinase 3
    calpain L3
    calpain p94
    muscle-specific calcium-activated neutral protease 3
    skeletal muscle specific calpain p94
    NP_001103231.1
    NP_001171270.1
    NP_031627.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001109761.2NP_001103231.1  calpain-3 isoform b

      See identical proteins and their annotated locations for NP_001103231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (b) has multiple differences, compared to variant a. The resulting protein (isoform b) is shorter and has a distinct N-terminus when it is compared to isoform a.
      Source sequence(s)
      BB202194, BC090661
      Consensus CDS
      CCDS50680.1
      UniProtKB/TrEMBL
      O88977, Q0VGP9
      Related
      ENSMUSP00000028748.7, ENSMUST00000028748.14
      Conserved Domains (5) summary
      cd00051
      Location:585639
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00648
      Location:51347
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:361511
      Calpain_III; Calpain large subunit, domain III
      pfam13499
      Location:616672
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:616705
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. NM_001177799.1NP_001171270.1  calpain-3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c) lacks several alternate, in-frame coding exons, compared to variant a. The resulting protein (isoform c) is shorter when it is compared to isoform a.
      Source sequence(s)
      AF127766, BB202194, BC090661, BC139790, BY142198, CN664345
      Consensus CDS
      CCDS50679.1
      UniProtKB/TrEMBL
      A0A668KLF1
      Related
      ENSMUSP00000106349.2, ENSMUST00000110721.9
      Conserved Domains (5) summary
      cd00051
      Location:605659
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00648
      Location:77367
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:381531
      Calpain_III; Calpain large subunit, domain III
      pfam13499
      Location:636692
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:636725
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. NM_007601.3NP_031627.2  calpain-3 isoform a

      See identical proteins and their annotated locations for NP_031627.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a) is the longest transcript and it encodes the longest protein (isoform a).
      Source sequence(s)
      AL935121, BB202194, BC090661, BC139790, BY142198, CN664345
      Consensus CDS
      CCDS16620.1
      UniProtKB/Swiss-Prot
      A2AVV3, Q64691, Q9WUC5
      UniProtKB/TrEMBL
      A4QPE6
      Related
      ENSMUSP00000028749.8, ENSMUST00000028749.15
      Conserved Domains (6) summary
      cd00051
      Location:697751
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00648
      Location:77415
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:429579
      Calpain_III; Calpain large subunit, domain III
      pfam13499
      Location:728784
      EF-hand_7; EF-hand domain pair
      pfam16648
      Location:583653
      Calpain_u2; Unstructured region on Calpain-3
      cl08302
      Location:728817
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      120294074..120335400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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