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Apaf1
Gene Detail
 Symbol
Name
ID
Apaf1
apoptotic peptidase activating factor 1
MGI:1306796
Synonyms 6230400I06Rik, Apaf1l
Feature Type protein coding gene
Genetic Map
Chromosome 10
45.47 cM, cytoband C3-D1
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr10:90989311-91082770 bp, - strand
From VEGA annotation of GRCm38

  93460 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7626  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: apoptotic protease-activating factor 1
Gene Tree: Apaf1

Human
homologs
Human Homolog APAF1, apoptotic peptidase activating factor 1
NCBI Gene ID 317
neXtProt AC  NX_O14727
Human Synonyms  APAF-1, CED4
Human Chr (Location)  12q23; chr12:98645228-98735433 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(1) Gene trapped(6) Spontaneous(1) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile.
 
Interactions
Apaf1 interacts with 355 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, ...
Component apoptosome, cytoplasm, ...
Function ADP binding, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (16 records)
Data Summary: Results (26)    Tissues (8)   
Theiler Stages: 22, 26, 28
Assay TypeResults
Immunohistochemistry 2
Western blot 24
cDNA source data(98)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(106) Genomic(2) cDNA(103) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000027822 (Evidence)
Ensembl Gene ModelENSMUSG00000019979 (Evidence)
Entrez Gene11783 (Evidence)
UniGene220289
DFCITC1580740, TC1591718, TC1598907, TC1626429
DoTSDT.103578946, DT.110606524, DT.490734, DT.94181428, DT.99633540
NIA Mouse Gene IndexU032125
PDB3SFZ, 3SHF
Consensus CDS ProjectCCDS36030.1, CCDS70095.1
International Mouse Knockout Project StatusApaf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027822 VEGA Gene Model | MGI Sequence Detail 93460 C57BL/6J ±  kb
transcript OTTMUST00000068865 VEGA | MGI Sequence Detail 6433 Not Applicable 
polypeptide OTTMUSP00000034902 VEGA | MGI Sequence Detail 1249 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(6) UniProt(4)
Polymorphisms SNPs within 2kb(616 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017251 Apoptotic protease-activating factor 1
InterPro IPR001315 Caspase Recruitment
InterPro IPR011029 Death-like domain
InterPro IPR000767 Disease resistance protein
InterPro IPR020472 G-protein beta WD-40 repeat
InterPro IPR002182 NB-ARC
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000002194 apoptotic protease-activating factor 1
References (Earliest) J:40076 Chowdhury K, et al., Evidence for the stochastic integration of gene trap vectors into the mouse germline. Nucleic Acids Res. 1997 Apr 15;25(8):1531-6
(Latest) J:210320 Josefsson EC, et al., Platelet production proceeds independently of the intrinsic and extrinsic apoptosis pathways. Nat Commun. 2014;5:3455
All references(113)
Other
accession IDs
MGI:1096874, MGI:1277987, MGI:1923379

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory