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Gene: APAF1 (apoptotic peptidase activating factor 1) Homo sapiens
Symbol: APAF1
Name: apoptotic peptidase activating factor 1
Description: This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APAF-1; apoptotic protease activating factor 1; apoptotic protease-activating factor 1; CED4; DKFZp781B1145
Mus musculus (house mouse) : Apaf1 (apoptotic peptidase activating factor 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Apaf1 (apoptotic peptidase activating factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Apaf1 (apoptotic peptidase activating factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : APAF1 (apoptotic peptidase activating factor 1)
Canis lupus familiaris (dog) : APAF1 (apoptotic peptidase activating factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Apaf1 (apoptotic peptidase activating factor 1)
Sus scrofa (pig) : APAF1 (apoptotic peptidase activating factor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381298,645,141 - 98,735,433 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371299,039,078 - 99,129,211 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361297,563,209 - 97,653,342 (+)NCBINCBI36hg18NCBI36
Build 341297,541,545 - 97,631,678NCBI
Celera1298,703,974 - 98,794,106 (+)NCBI
Cytogenetic Map12q23.1NCBI
HuRef1296,100,029 - 96,190,306 (+)NCBIHuRef
CHM1_11299,004,024 - 99,094,151 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on APAF1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733293
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.