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Casp9 caspase 9 [ Mus musculus (house mouse) ]

Gene ID: 12371, updated on 18-Apr-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

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 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 involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type endopeptidase activity involved in apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cysteine-type endopeptidase activity involved in apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
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
 
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 activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 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 endoplasmic reticulum stress NAS
Non-traceable Author Statement
more info
PubMed 
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
 
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 ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteolysis RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
Component Evidence Code Pubs
part_of apoptosome ISO
Inferred from Sequence Orthology
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
 
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)

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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_001277932.1NP_001264861.1  caspase-9 isoform 2

    See identical proteins and their annotated locations for NP_001264861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
    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_001355176.1NP_001342105.1  caspase-9 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) is one amino acid shorter than isoform 1.
    Source sequence(s)
    BB610740, BC056372, BC056447, BY549141
    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_015733.5NP_056548.2  caspase-9 isoform 1 precursor

    See identical proteins and their annotated locations for NP_056548.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC056372, BC056447, BY549141
    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)