Apaf1 apoptotic peptidase activating factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apaf1provided by MGI
Official Full Name: apoptotic peptidase activating factor 1provided by MGI
Primary source: MGI:MGI:1306796
See related: Ensembl:ENSMUSG00000019979 AllianceGenome:MGI:1306796
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: fog; Apaf-1; Apaf1l; mKIAA0413; 6230400I06Rik
Summary: Enables cysteine-type endopeptidase activator activity involved in apoptotic process and identical protein binding activity. Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Acts upstream of or within several processes, including nervous system development; positive regulation of cysteine-type endopeptidase activity; and regulation of apoptotic DNA fragmentation. Located in cytosol and nucleus. Is expressed in several structures, including inner cell mass; inner ear; limb interdigital region; liver; and vibrissa. Used to study Noonan syndrome. Orthologous to human APAF1 (apoptotic peptidase activating factor 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 8.3), large intestine adult (RPKM 7.7) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C2; 10 45.47 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (90825173..90918688, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (90989311..91082743, complement)

Chromosome 10 - NC_000076.7 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?

Contribution of Apaf-1 to the pathogenesis of cancer and neurodegenerative diseases.
Title: Contribution of Apaf-1 to the pathogenesis of cancer and neurodegenerative diseases.
CARD9 protects cardiomyocytes from apoptosis by interacting with Apaf-1 and interfering with apoptosome formation following myocardial ischemia/reperfusion injury in vivo and in vitro
Title: CARD9 inhibits mitochondria-dependent apoptosis of cardiomyocytes under oxidative stress via interacting with Apaf-1.
data collectively demonstrated that Apaf1 is a negative regulator of T cell responses and implicated Apaf1 as a potential target for immunosuppressive drug discovery
Title: Apaf1 plays a negative regulatory role in T cell responses by suppressing activation of antigen-stimulated T cells.
miR-183 was induced in protective postconditioning and reduced reperfusion injury of the livers via the targeting of apoptotic signaling. miR-183 mediated the tolerance induced by iPoC in livers via Apaf-1 repressing.
Title: microRNA-183 Mediates Protective Postconditioning of the Liver by Repressing Apaf-1.
Apaf1's pivotal role during embryonic development as has been demonstrated to be in regulation of neuronal cell death
Title: Apaf1 in embryonic development - shaping life by death, and more.
Inhibition of Caspase-9 restricted, while Apaf-1 promoted, Chlamydia pneumoniae infection in HEp-2, HeLa, and mouse epithelial fibroblast (MEF) cells.
Title: An epistatic effect of apaf-1 and caspase-9 on chlamydial infection.
Apaf1 is required for proper cortical neuron differentiation since its deletion specifically impairs axonal outgrowth.
Title: Apaf1-deficient cortical neurons exhibit defects in axonal outgrowth.
study demonstrates that MMP-3 leads to caspase-9 activation and suggests that this occurs indirectly via a cytosolic protein, possibly involving Apaf-1
Title: Caspase-9 activation and Apaf-1 cleavage by MMP-3.
results provide evidence that Apaf-1 pharmacological inhibition has therapeutic potential for the treatment of apoptosis-related diseases.
Title: Apaf-1 inhibitors protect from unwanted cell death in in vivo models of kidney ischemia and chemotherapy induced ototoxicity.
Study reports experimental evidence suggesting the likely participation of the Apaf1 protein in the aggregation of polyQ stretches; Apaf1 may enhance polyglutamine aggregation by reducing the cellular protein levels of available functional Hsp70
Title: Inactivation of Apaf1 reduces the formation of mutant huntingtin-dependent aggregates and cell death.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation
Gene trapped (1) 1 citation
Spontaneous (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF064071 (e-PCR)
- UniSTS:163484

D10Mit231 (e-PCR), detects polymorphism
- UniSTS:126135

Apaf1 (e-PCR), detects polymorphism
- UniSTS:233947

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activator activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables heat shock protein binding	IEA Inferred from Electronic Annotation more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
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 cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of apoptotic DNA fragmentation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of apoptosome	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
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: apoptotic protease-activating factor 1

Names: forebrain overgrowth

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_001042558.2 → NP_001036023.1 apoptotic protease-activating factor 1 isoform 1

See identical proteins and their annotated locations for NP_001036023.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) has an additional segment in the 5' UTR, compared to variant 2. Variants 1 and 2 both encode the same isoform (1).

Source sequence(s)

AC138719, AC140410

Consensus CDS

CCDS36030.1

UniProtKB/Swiss-Prot

A2RRK8, O88879

UniProtKB/TrEMBL

Q5DU30

Related

ENSMUSP00000020157.7, ENSMUST00000020157.13

Conserved Domains (5) summary

cd00200
Location:607 → 910

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cd08323
Location:7 → 92

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

sd00039
Location:623 → 655

7WD40; WD40 repeat [structural motif]

pfam00931
Location:129 → 374

NB-ARC; NB-ARC domain

pfam17908
Location:453 → 587

APAF1_C; APAF-1 helical domain
NM_001282947.2 → NP_001269876.1 apoptotic protease-activating factor 1 isoform 2

See identical proteins and their annotated locations for NP_001269876.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC138719, AC140410

Consensus CDS

CCDS70095.1

UniProtKB/TrEMBL

G3XA09, Q5DU30

Related

ENSMUSP00000124134.2, ENSMUST00000162618.8

Conserved Domains (5) summary

COG2319
Location:642 → 1027

WD40; WD40 repeat [General function prediction only]

cd00200
Location:596 → 899

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cd08323
Location:7 → 92

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam00931
Location:118 → 403

NB-ARC; NB-ARC domain

sd00039
Location:612 → 644

7WD40; WD40 repeat [structural motif]
NM_001428359.1 → NP_001415288.1 apoptotic protease-activating factor 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC138719, AC140410

UniProtKB/TrEMBL

Q5DU30
NM_001428360.1 → NP_001415289.1 apoptotic protease-activating factor 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC138719, AC140410

UniProtKB/TrEMBL

Q5DU30
NM_009684.3 → NP_033814.2 apoptotic protease-activating factor 1 isoform 1

See identical proteins and their annotated locations for NP_033814.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the longest isoform (1). Variants 1 and 2 both encode the same isoform (1).

Source sequence(s)

AC138719, AC140410

Consensus CDS

CCDS36030.1

UniProtKB/Swiss-Prot

A2RRK8, O88879

UniProtKB/TrEMBL

Q5DU30

Related

ENSMUSP00000125291.2, ENSMUST00000159110.8

Conserved Domains (5) summary

cd00200
Location:607 → 910

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cd08323
Location:7 → 92

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

sd00039
Location:623 → 655

7WD40; WD40 repeat [structural motif]

pfam00931
Location:129 → 374

NB-ARC; NB-ARC domain

pfam17908
Location:453 → 587

APAF1_C; APAF-1 helical domain

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

90825173..90918688 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155560.1 → XP_036011453.1 apoptotic protease-activating factor 1 isoform X1

Conserved Domains (5) summary

cd00200
Location:607 → 910

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cd08323
Location:7 → 92

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

sd00039
Location:623 → 655

7WD40; WD40 repeat [structural motif]

pfam00931
Location:129 → 374

NB-ARC; NB-ARC domain

pfam17908
Location:453 → 587

APAF1_C; APAF-1 helical domain
XM_036155561.1 → XP_036011454.1 apoptotic protease-activating factor 1 isoform X1

Conserved Domains (5) summary

cd00200
Location:607 → 910

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cd08323
Location:7 → 92

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

sd00039
Location:623 → 655

7WD40; WD40 repeat [structural motif]

pfam00931
Location:129 → 374

NB-ARC; NB-ARC domain

pfam17908
Location:453 → 587

APAF1_C; APAF-1 helical domain
XM_036155562.1 → XP_036011455.1 apoptotic protease-activating factor 1 isoform X2

Conserved Domains (3) summary

cd00200
Location:148 → 451

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:164 → 196

7WD40; WD40 repeat [structural motif]

pfam17908
Location:1 → 128

APAF1_C; APAF-1 helical domain