Casp9 caspase 9 [Mus musculus (house mouse)] - Gene

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: human all
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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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase-9 inhibition triggers Hsp90-based chemotherapy-mediated tumor intrinsic innate sensing and enhances antitumor immunity.
Title: Caspase-9 inhibition triggers Hsp90-based chemotherapy-mediated tumor intrinsic innate sensing and enhances antitumor immunity.
Caspase-9 driven murine model of selective cell apoptosis and efferocytosis.
Title: Caspase-9 driven murine model of selective cell apoptosis and efferocytosis.
Neurovascular injury associated non-apoptotic endothelial caspase-9 and astroglial caspase-9 mediate inflammation and contrast sensitivity decline.
Title: Neurovascular injury associated non-apoptotic endothelial caspase-9 and astroglial caspase-9 mediate inflammation and contrast sensitivity decline.
Puma- and Caspase9-mediated apoptosis is dispensable for p53-driven neural crest-based developmental defects.
Title: Puma- and Caspase9-mediated apoptosis is dispensable for p53-driven neural crest-based developmental defects.
Apoptotic cells represent a dynamic stem cell niche governing proliferation and tissue regeneration.
Title: Apoptotic cells represent a dynamic stem cell niche governing proliferation and tissue regeneration.
BICAO-induced ischaemia caused depressive-like behaviours and caspase-8/-9-dependent brain regional neural cell apoptosis in mice.
Title: BICAO-induced ischaemia caused depressive-like behaviours and caspase-8/-9-dependent brain regional neural cell apoptosis in mice.
Interplay between Caspase 9 and X-linked Inhibitor of Apoptosis Protein (XIAP) in the oocyte elimination during fetal mouse development.
Title: Interplay between Caspase 9 and X-linked Inhibitor of Apoptosis Protein (XIAP) in the oocyte elimination during fetal mouse development.
Endothelial activation of caspase-9 promotes neurovascular injury in retinal vein occlusion.
Title: Endothelial activation of caspase-9 promotes neurovascular injury in retinal vein occlusion.
Apoptosis induced by ESAT-6 was mainly via the intrinsic pathway with elevated protein levels of cleaved caspase-9 and -3. Furthermore, ESAT-6 also induced Bim activation during this process.
Title: Early secreted antigenic target of 6-kDa of Mycobacterium tuberculosis promotes caspase-9/caspase-3-mediated apoptosis in macrophages.
Inhibition of caspase-9 aggravates acute liver injury through suppression of cytoprotective autophagy.
Title: Inhibition of caspase-9 aggravates acute liver injury through suppression of cytoprotective autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Casp9 (e-PCR), detects polymorphism
- UniSTS:506779

AW493809 (e-PCR)
- UniSTS:179108

RH135858 (e-PCR)
- UniSTS:209856

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

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Preferred Names: caspase-9

Names: ICE-like apoptotic protease 6; apoptotic protease Mch-6; apoptotic protease-activating factor 3

NP_001264861.1

EC 3.4.22.62

NP_001342105.1

EC 3.4.22.62

NP_056548.2

EC 3.4.22.62

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)

NM_001277932.1 → NP_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:5 → 90

CARD_CASP9; Caspase activation and recruitment domain of Caspase-9

cd00032
Location:190 → 403

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 ...
NM_001355176.1 → NP_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:5 → 89

CARD_CASP9; Caspase activation and recruitment domain of Caspase-9

cd00032
Location:189 → 451

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 ...
NM_015733.5 → NP_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:5 → 90

CARD_CASP9; Caspase activation and recruitment domain of Caspase-9

cd00032
Location:190 → 452

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 ...