U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 11783, updated on 3-Dec-2024

    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 activation of cysteine-type endopeptidase activity involved in apoptotic process; nervous system development; 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, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 8.3), large intestine adult (RPKM 7.7) and 27 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Apaf1 in Genome Data Viewer
    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_000076.7Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1B Neighboring gene STARR-seq mESC enhancer starr_27536 Neighboring gene small nuclear ribonucleoprotein B pseudogene Neighboring gene STARR-seq mESC enhancer starr_27538 Neighboring gene predicted gene, 53598 Neighboring gene STARR-positive B cell enhancer ABC_E9131 Neighboring gene predicted gene, 25390 Neighboring gene STARR-positive B cell enhancer ABC_E370 Neighboring gene STARR-positive B cell enhancer ABC_E6900 Neighboring gene STARR-seq mESC enhancer starr_27545 Neighboring gene STARR-seq mESC enhancer starr_27543 Neighboring gene STARR-positive B cell enhancer ABC_E5165 Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 Neighboring gene predicted gene, 24119 Neighboring gene IKBKB interacting protein Neighboring gene nuclear encoded tRNA trytophan 2 (anticodon CCA) Neighboring gene thymopoietin

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0413

    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

    Preferred Names
    apoptotic protease-activating factor 1
    Names
    forebrain overgrowth

    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_001042558.2NP_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: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
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]
      pfam00931
      Location:129374
      NB-ARC; NB-ARC domain
      pfam17908
      Location:453587
      APAF1_C; APAF-1 helical domain
    2. NM_001282947.2NP_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: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_001428359.1NP_001415288.1  apoptotic protease-activating factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC138719, AC140410
      UniProtKB/TrEMBL
      Q5DU30
    4. NM_001428360.1NP_001415289.1  apoptotic protease-activating factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC138719, AC140410
      UniProtKB/TrEMBL
      Q5DU30
    5. NM_009684.3NP_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: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
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]
      pfam00931
      Location:129374
      NB-ARC; NB-ARC domain
      pfam17908
      Location:453587
      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

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      90825173..90918688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (5) summary
      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
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]
      pfam00931
      Location:129374
      NB-ARC; NB-ARC domain
      pfam17908
      Location:453587
      APAF1_C; APAF-1 helical domain
    2. XM_036155561.1XP_036011454.1  apoptotic protease-activating factor 1 isoform X1

      Conserved Domains (5) summary
      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
      sd00039
      Location:623655
      7WD40; WD40 repeat [structural motif]
      pfam00931
      Location:129374
      NB-ARC; NB-ARC domain
      pfam17908
      Location:453587
      APAF1_C; APAF-1 helical domain
    3. XM_036155562.1XP_036011455.1  apoptotic protease-activating factor 1 isoform X2

      Conserved Domains (3) summary
      cd00200
      Location:148451
      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:164196
      7WD40; WD40 repeat [structural motif]
      pfam17908
      Location:1128
      APAF1_C; APAF-1 helical domain

    RNA

    1. XR_004936065.1 RNA Sequence