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    Casp9 caspase 9 [ Mus musculus (house mouse) ]

    Gene ID: 12371, updated on 3-Dec-2024

    Summary

    Official Symbol
    Casp9provided by MGI
    Official Full Name
    caspase 9provided by MGI
    Primary source
    MGI:MGI:1277950
    See related
    Ensembl:ENSMUSG00000028914 AllianceGenome:MGI:1277950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mch6; APAF-3; CASP-9; ICE-LAP6; Caspase-9
    Summary
    This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
    Expression
    Ubiquitous expression in small intestine adult (RPKM 37.5), spleen adult (RPKM 32.3) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Casp9 in Genome Data Viewer
    Location:
    4 D3; 4 74.75 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (141520923..141543289)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (141793612..141815978)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene agmatinase Neighboring gene DnaJ heat shock protein family (Hsp40) member C16 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:141346676-141346859 Neighboring gene STARR-positive B cell enhancer ABC_E1042 Neighboring gene chymotrypsin-like elastase family, member 2A Neighboring gene chymotrypsin C Neighboring gene chymotrypsin C, opposite strand Neighboring gene predicted gene, 35034

    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)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidase activity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to UV ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to UV ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to dexamethasone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within epithelial cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein maturation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within proteolysis RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    acts_upstream_of_or_within response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to cobalt ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in signal transduction in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in signal transduction in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of apoptosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of apoptosome ISO
    Inferred from Sequence Orthology
    more info
     
    part_of caspase complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of caspase complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    caspase-9
    Names
    ICE-like apoptotic protease 6
    apoptotic protease Mch-6
    apoptotic protease-activating factor 3
    NP_001264861.1
    NP_001342105.1
    NP_056548.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001277932.2NP_001264861.1  caspase-9 isoform 2

      See identical proteins and their annotated locations for NP_001264861.1

      Status: REVIEWED

      Source sequence(s)
      AL928577
      Consensus CDS
      CCDS71510.1
      UniProtKB/TrEMBL
      A2AS93, Q9R0S9
      Related
      ENSMUSP00000095414.5, ENSMUST00000097805.11
      Conserved Domains (2) summary
      cd08326
      Location:590
      CARD_CASP9; Caspase activation and recruitment domain of Caspase-9
      cd00032
      Location:190403
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...
    2. NM_001355176.2NP_001342105.1  caspase-9 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL928577
      UniProtKB/TrEMBL
      Q4FJK5, Q8C3Q0
      Conserved Domains (2) summary
      cd08326
      Location:589
      CARD_CASP9; Caspase activation and recruitment domain of Caspase-9
      cd00032
      Location:189451
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...
    3. NM_001429869.1NP_001416798.1  caspase-9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL928577
      UniProtKB/TrEMBL
      Q8C3Q0
    4. NM_001429870.1NP_001416799.1  caspase-9 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL928577
      UniProtKB/TrEMBL
      Q8C3Q0
    5. NM_015733.6NP_056548.2  caspase-9 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056548.2

      Status: REVIEWED

      Source sequence(s)
      AL928577
      Consensus CDS
      CCDS18883.1
      UniProtKB/Swiss-Prot
      Q8C3Q9
      UniProtKB/TrEMBL
      Q4FJK5, Q8C3Q0
      Related
      ENSMUSP00000030747.5, ENSMUST00000030747.11
      Conserved Domains (2) summary
      cd08326
      Location:590
      CARD_CASP9; Caspase activation and recruitment domain of Caspase-9
      cd00032
      Location:190452
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      141520923..141543289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)