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

Gene ID: 11783, updated on 8-Dec-2022

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, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 8.3), large intestine adult (RPKM 7.7) and 27 other tissues See more
Orthologs
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Genomic context

See Apaf1 in Genome Data Viewer
Location:
10 C2; 10 45.47 cM
Exon count:
28
Annotation release Status Assembly Chr Location
109 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 small nuclear ribonucleoprotein B pseudogene Neighboring gene predicted gene, 53598 Neighboring gene predicted gene, 25390 Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 Neighboring gene IKBKB interacting protein Neighboring gene predicted gene, 24119 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

Homology

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 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
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
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 activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac muscle cell apoptotic process ISO
Inferred from Sequence Orthology
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 
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 regulation of apoptotic DNA fragmentation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of apoptosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm 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)

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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_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
    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_001282947.1NP_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
    ENSMUSP00000124134.2, 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_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
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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