ENSG00000120868


Homo sapiens

Features
Gene ID: ENSG00000120868
  
Biological name :APAF1
  
Synonyms : APAF1 / apoptotic peptidase activating factor 1 / O14727
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q23.1
Gene start: 98645141
Gene end: 98735433
  
Corresponding Affymetrix probe sets: 204859_s_at (Human Genome U133 Plus 2.0 Array)   211553_x_at (Human Genome U133 Plus 2.0 Array)   211554_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449791
Ensembl peptide - ENSP00000448826
Ensembl peptide - ENSP00000450175
Ensembl peptide - ENSP00000334558
Ensembl peptide - ENSP00000349862
Ensembl peptide - ENSP00000353059
Ensembl peptide - ENSP00000448161
Ensembl peptide - ENSP00000448165
Ensembl peptide - ENSP00000448449
NCBI entrez gene - 317     See in Manteia.
OMIM - 602233
RefSeq - XM_017019250
RefSeq - NM_001160
RefSeq - NM_013229
RefSeq - NM_181861
RefSeq - NM_181868
RefSeq - NM_181869
RefSeq Peptide - NP_863658
RefSeq Peptide - NP_863659
RefSeq Peptide - NP_037361
RefSeq Peptide - NP_001151
RefSeq Peptide - NP_863651
swissprot - O14727
swissprot - F8VNZ0
swissprot - C9JLV4
Ensembl - ENSG00000120868
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 apaf1ENSDARG00000021239Danio rerio
 APAF1ENSGALG00000011531Gallus gallus
 Apaf1ENSMUSG00000019979Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
WDR88 / Q6ZMY6 / WD repeat domain 88ENSG000001663597
Q8N9V3 / WDSUB1 / WD repeat, sterile alpha motif and U-box domain containing 1ENSG000001961516


Protein motifs (from Interpro)
Interpro ID Name
 IPR001315  CARD domain
 IPR001680  WD40 repeat
 IPR002182  NB-ARC
 IPR011029  Death-like domain superfamily
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017251  Apoptotic protease-activating factor 1
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c TAS
 biological_processGO:0010659 cardiac muscle cell apoptotic process IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0034349 glial cell apoptotic process IEA
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051402 neuron apoptotic process IEA
 biological_processGO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
 biological_processGO:0070317 negative regulation of G0 to G1 transition TAS
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:0072432 response to G1 DNA damage checkpoint signaling TAS
 biological_processGO:0097190 apoptotic signaling pathway IEA
 biological_processGO:0097193 intrinsic apoptotic signaling pathway TAS
 biological_processGO:1902510 regulation of apoptotic DNA fragmentation IEA
 biological_processGO:2001235 positive regulation of apoptotic signaling pathway IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0043293 apoptosome TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000166 nucleotide binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process TAS
 molecular_functionGO:0031072 heat shock protein binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043531 ADP binding IEA


Pathways (from Reactome)
Pathway description
Formation of apoptosome
Activation of caspases through apoptosome-mediated cleavage
Neutrophil degranulation
TP53 Regulates Transcription of Caspase Activators and Caspases
Transcriptional Regulation by E2F6


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000172115 CYCS / P99999 / cytochrome c, somatic  / complex / reaction
 ENSG00000132906 CASP9 / P55211 / caspase 9  / complex / reaction






 

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