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 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; chr12:99039078-99129211 (+)  GRCh37.p13

Alleles and phenotypes

All alleles(16) : Targeted(8) Gene trapped(6) Spontaneous(1) Chemically induced(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.

 

Gene Ontology (GO) classifications

All GO classifications: (33 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, cytosol, ...
Function	ADP binding, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (15 records)

Data Summary: Results (26)    Tissues (8)   
Theiler Stages: 22, 26, 28

Assay Type	Results
Immunohistochemistry	2
Western blot	24

cDNA source data(98)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(106) Genomic(2) cDNA(103) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000027822 (Evidence)
Ensembl Gene Model	ENSMUSG00000019979 (Evidence)
Entrez Gene	11783 (Evidence)
UniGene	220289
DFCI	TC1580740, TC1591718, TC1598907, TC1626429
DoTS	DT.103578946, DT.110606524, DT.490734, DT.94181428, DT.99633540
NIA Mouse Gene Index	U032125
PDB	3SFZ, 3SHF
Consensus CDS Project	CCDS36030.1
International Mouse Knockout Project Status	Apaf1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027822	VEGA Gene Model | MGI Sequence Detail	93460	C57BL/6J
transcript	OTTMUST00000068865	VEGA | MGI Sequence Detail	6433	Not Applicable
polypeptide	OTTMUSP00000034902	VEGA | MGI Sequence Detail	1249	Not Applicable

All sequences(61) RefSeq(6) UniProt(4)

Polymorphisms

SNPs within 2kb(616 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:201947 Long AB, et al., Apaf1 apoptotic function critically limits Sonic hedgehog signaling during craniofacial development. Cell Death Differ. 2013 Nov;20(11):1510-20
All references(109)

Other accession IDs

MGI:1096874, MGI:1277987, MGI:1923379