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Apaf1 Gene Detail
 Symbol
Name
ID
Apaf1
apoptotic peptidase activating factor 1
MGI:1306796


Nomenclature History
Synonyms 6230400I06Rik, Apaf1l
Genetic Map
Chromosome 10
48.0 cM, cytoband C3-D1
Detailed Genetic Map ± 1 cM
 
Mapping data( 6)

Sequence Map
Chr10:90452056-90545515 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Apaf1 ± 2 cM)
Protein SuperFamily: apoptotic protease-activating factor 1
TreeFam: TF323866
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000027822 VEGA Gene Model | MGI Sequence Detail 93460 C57BL/6J ± Kb
transcript NM_001042558 RefSeq | MGI Sequence Detail 6557 C57BL/6
polypeptide O88879 UniProt | EBI | MGI Sequence Detail 1249 Not Applicable
For the selected sequences
All sequences(31)
Alleles
and
phenotypes
All alleles(12) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(6) Spontaneous(1)
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.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)  
Polymorphisms SNPs within 2kb(302 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(27)
Process activation of caspase activity, apoptosis...
Component cytoplasm, cytosol...
Function apoptotic protease activator activity, ATP binding...
External Resources: MouseFunc
Expression Literature Summary: (13 records)
Data Summary: Assays (1)    Results (24)    Tissues (6)
Theiler Stages: 26,28
  Assay Type Assays   Results
      Western blot 1   24
cDNA source data(96)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(104) Genomic(2) cDNA(101) Primer pair(1) Antibodies(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000019979
DoTS DT.103578946, DT.110606524, DT.490734, DT.94181428, DT.99633540
UniGene 220289
DFCI TC1580740, TC1591718, TC1598907, TC1626429
NIA Mouse Gene Index U032125
Entrez Gene 11783
VEGA Gene Model OTTMUSG00000027822
International Mouse Knockout Project Status Apaf1
Protein
domains
InterPro ID Description
IPR000767 Disease resistance protein
IPR001315 Caspase Recruitment
IPR001680 WD40 repeat
IPR002182 NB-ARC
IPR002469 Peptidase S9B, dipeptidylpeptidase IV N-terminal
IPR011029 DEATH-like
IPR011046 WD40 repeat-like-containing domain
IPR015943 WD40/YVTN repeat-like-containing domain
IPR017251 Apoptotic protease-activating factor 1
IPR017986 WD40-repeat-containing domain
IPR019775 WD40 repeat, conserved site
IPR019781 WD40 repeat, subgroup
IPR019782 WD40 repeat 2
IPR020472 G-protein beta WD-40 repeat, region
Graphical View of Protein Domain Structure
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:148528 Massa V et al., "Apoptosis is not required for mammalian neural tube closure." Proc Natl Acad Sci U S A 2009 May 19;106(20):8233-8
All references(73)
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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Funding Information
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last database update
11/20/2009
MGI_4.31
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