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

    Gene ID: 11783, updated on 8-Oct-2017
    Official Symbol
    Apaf1provided by MGI
    Official Full Name
    apoptotic peptidase activating factor 1provided by MGI
    Primary source
    MGI:MGI:1306796
    See related
    Ensembl:ENSMUSG00000019979 Vega:OTTMUSG00000027822
    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
    Orthologs
    Location:
    10 C2; 10 45.47 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (90989311..91082743, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (90452056..90545488, complement)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1B Neighboring gene predicted gene 5780 Neighboring gene small nuclear ribonucleoprotein B pseudogene Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 Neighboring gene IKBKB interacting protein Neighboring gene nuclear encoded tRNA trytophan 2 (anticodon CCA) Neighboring gene thymopoietin

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystem (from REACTOME)
      Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
      Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis - multiple species, conserved biosystem (from KEGG)
      Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation by HSP70, organism-specific biosystem
      Apoptosis Modulation by HSP70
    • Apoptosis signaling pathway, organism-specific biosystem (from LIPID MAPS)
      Apoptosis signaling pathway, organism-specific biosystem
      Apoptosis signaling pathway
    • Apoptotic factor-mediated response, organism-specific biosystem (from REACTOME)
      Apoptotic factor-mediated response, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Apoptotic machinery, organism-specific biosystem (from KEGG)
      Apoptotic machinery, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Apoptotic machinery, conserved biosystem (from KEGG)
      Apoptotic machinery, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Cytochrome c-mediated apoptotic response, organism-specific biosystem (from REACTOME)
      Cytochrome c-mediated apoptotic response, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
      FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
    • Formation of apoptosome, organism-specific biosystem (from REACTOME)
      Formation of apoptosome, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Hepatitis B, organism-specific biosystem (from KEGG)
      Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway for Apoptosis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Legionellosis, organism-specific biosystem (from KEGG)
      Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Legionellosis, conserved biosystem (from KEGG)
      Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Oxidative Damage, organism-specific biosystem (from WikiPathways)
      Oxidative Damage, organism-specific biosystemThis pathway shows how tissue is damaged when oxygen levels are not balanced and become too high.
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • miRNA regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
      miRNA regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
    • p53 signaling, organism-specific biosystem (from WikiPathways)
      p53 signaling, organism-specific biosystemhttp://www.kegg.jp/ (mmu04115) p53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcription...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0413

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine-type endopeptidase activator activity involved in apoptotic process IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heat shock protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c ISO
    Inferred from Sequence Orthology
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to transforming growth factor beta stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of apoptotic DNA fragmentation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apoptosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apoptosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    apoptotic protease-activating factor 1
    Names
    forebrain overgrowth

    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_001042558.1NP_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 encode the same isoform 1.
      Source sequence(s)
      AK220340, BC083191, CJ160169, DT924066
      Consensus CDS
      CCDS36030.1
      UniProtKB/Swiss-Prot
      O88879
      UniProtKB/TrEMBL
      Q5DU30
      Related
      ENSMUSP00000020157.6, OTTMUSP00000034901, ENSMUST00000020157.12, OTTMUST00000068864
      Conserved Domains (5) summary
      COG2319
      Location:6531038
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:607910
      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:792
      CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1
      pfam00931
      Location:129414
      NB-ARC; NB-ARC domain
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]
    2. NM_001282947.1NP_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)
      AK220340, BC083191, BY293164, CF539822
      Consensus CDS
      CCDS70095.1
      UniProtKB/TrEMBL
      G3XA09, Q5DU30
      Related
      ENSMUSP00000124134.1, OTTMUSP00000034903, ENSMUST00000162618.7, OTTMUST00000068866
      Conserved Domains (5) summary
      COG2319
      Location:6421027
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:596899
      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:792
      CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1
      pfam00931
      Location:118403
      NB-ARC; NB-ARC domain
      sd00039
      Location:612644
      7WD40; WD40 repeat [structural motif]
    3. NM_009684.2NP_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 longer isoform (1). Variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      AK220340, BC083191, CJ160169, DT924066
      Consensus CDS
      CCDS36030.1
      UniProtKB/Swiss-Prot
      O88879
      UniProtKB/TrEMBL
      Q5DU30
      Related
      ENSMUSP00000125291.1, OTTMUSP00000034902, ENSMUST00000159110.7, OTTMUST00000068865
      Conserved Domains (5) summary
      COG2319
      Location:6531038
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:607910
      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:792
      CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1
      pfam00931
      Location:129414
      NB-ARC; NB-ARC domain
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      90989311..91082743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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