Gene Gene information from NCBI Gene database.
Entrez ID 317
Gene name Apoptotic peptidase activating factor 1
Gene symbol APAF1
Synonyms (NCBI Gene)
APAF-1CED4
Chromosome 12
Chromosome location 12q23.1
Summary 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 oligo
miRNA miRNA information provided by mirtarbase database.
491
miRTarBase ID miRNA Experiments Reference
MIRT002410 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 18829576
MIRT018166 hsa-miR-335-5p Microarray 18185580
MIRT020853 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT002410 hsa-miR-21-5p Microarray 18591254
MIRT053424 hsa-miR-624-3p Microarray 23807165
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
E2F1 Activation 12149244;12766778;17600109
E2F1 Unknown 15972851
E2F6 Repression 17600109
HDAC2 Repression 18834886
SP1 Unknown 15972851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000166 Function Nucleotide binding TAS 10383829
GO:0001666 Process Response to hypoxia IEA
GO:0001822 Process Kidney development IEA
GO:0001843 Process Neural tube closure IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602233 576 ENSG00000120868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14727
Protein name Apoptotic protease-activating factor 1 (APAF-1)
Protein function Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis. {ECO
PDB 1C15 , 1CWW , 1CY5 , 1Z6T , 2P1H , 2YGS , 3J2T , 3JBT , 3YGS , 4RHW , 5JUY , 5WVC , 5WVE , 8XQK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 6 90 Caspase recruitment domain Domain
PF00931 NB-ARC 129 374 NB-ARC domain Domain
PF17908 APAF1_C 453 587 APAF-1 helical domain Domain
PF00400 WD40 605 643 WD domain, G-beta repeat Repeat
PF00400 WD40 647 685 WD domain, G-beta repeat Repeat
PF00400 WD40 689 729 WD domain, G-beta repeat Repeat
PF00400 WD40 733 771 WD domain, G-beta repeat Repeat
PF00400 WD40 872 910 WD domain, G-beta repeat Repeat
PF00400 WD40 992 1031 WD domain, G-beta repeat Repeat
PF00400 WD40 1075 1113 WD domain, G-beta repeat Repeat
PF00400 WD40 1118 1155 WD domain, G-beta repeat Repeat
PF00400 WD40 1167 1203 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels of expression in adult spleen and peripheral blood leukocytes, and in fetal brain, kidney and lung. Isoform 1 is expressed in heart, kidney and liver.
Sequence
MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVRNEPTQQQRAAMLIKMI
LKKDNDSYVSFYNALLHEGYKDLAALLHDG
IPVVSSSSGKDSVSGITSYVRTVLCEGGVP
QRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDHSLLEGCFPG
GVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRILMLRKHPRSLL
ILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLGKEKGLEILSLFVN
MKKADLPEQAHSIIKECKGSPLVVSLIGALLRDFPNRWEYYLKQLQNKQFKRIRKSSSYD
YEALDEAMSISVEM
LREDIKDYYTDLSILQKDVKVPTKVLCILWDMETEEVEDILQEFVN
KSLLFCDRNGKSFRYYLHDLQVDFLTEKNCSQLQDLHKKIITQFQRYHQPHTLSPDQEDC
MYWYNFLAYHMASAKMHKELCALMFSLDWIKAKTELVGPAHLIHEFVEYRHILDEKDCAV
SENFQEFLSLNGHLLGRQPFPNIVQLGLCEPETSEVYQQAKLQAKQE
VDNGMLYLEWINK
KNITNLSRLVVRPHTDAVYHACFSEDGQRIASCGADKTLQVFKAETGEKLLEIKAHEDEV
LCCAFSTDDRFIATCSVDKKVKIWN
SMTGELVHTYDEHSEQVNCCHFTNSSHHLLLATGS
SDCFLKLWD
LNQKECRNTMFGHTNSVNHCRFSPDDKLLASCSADGTLKLWDATSANERKS
INVKQFFLNLEDPQEDMEVIVKCCSWSADGARIMVAAKNKIFLFDIHTSGLLGEIHTGHH
STIQYCDFSPQNHLAVVALSQYCVELWNTDSRSKVADCRGHLSWVHGVMFSPDGSSFLTS
SDDQTIRLWE
TKKVCKNSAVMLKQEVDVVFQENEVMVLAVDHIRRLQLINGRTGQIDYLT
EAQVSCCCLSPHLQYIAFGDENGAIEILELVNNRIFQSRFQHKKTVWHIQFTADEKTLIS
SSDDAEIQVWN
WQLDKCIFLRGHQETVKDFRLLKNSRLLSWSFDGTVKVWNIITGNKEKD
FVCHQGTVLSCDISHDATKFSSTSADKTAKIWS
FDLLLPLHELRGHNGCVRCSAFSVDST
LLATGDDNGEIRIWN
VSNGELLHLCAPLSEEGAATHGGWVTDLCFSPDGKMLISAGGYIK
WWN
VVTGESSQTFYTNGTNLKKIHVSPDFKTYVTVDNLGILYILQTLE
Sequence length 1248
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Legionellosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Small cell lung cancer
Lipid and atherosclerosis
  Formation of apoptosome
Activation of caspases through apoptosome-mediated cleavage
Neutrophil degranulation
TP53 Regulates Transcription of Caspase Activators and Caspases
Transcriptional Regulation by E2F6
Regulation of the apoptosome activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APAF1-related disorder Benign; Likely benign rs138526583, rs148854272, rs143097832, rs749682848, rs144749677, rs147249307, rs118102803, rs766273568, rs199829267, rs755943177, rs755498688, rs1226018795, rs146238655, rs779183383, rs57171247
View all (6 more)
RCV003929385
RCV003907065
RCV003907236
RCV003919586
RCV003914674
RCV003941813
RCV003924343
RCV003924352
RCV003924491
RCV003924526
RCV003917349
RCV003979083
RCV003982074
RCV003969100
RCV003915804
RCV003928454
RCV003920600
RCV003920520
RCV003957971
RCV003932932
RCV003915930
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs745962333 RCV004560084
Familial cancer of breast Uncertain significance rs150056794 RCV005928902
Neural tube defect Uncertain significance rs1565850856 RCV000709688
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27153549
Arthritis Rheumatoid Associate 24920239
Astrocytoma Associate 15367334
Brain Neoplasms Associate 18093951
Breast Neoplasms Inhibit 20829044
Burkitt Lymphoma Associate 15692060
Calcinosis Cutis Inhibit 15305193
Carcinogenesis Associate 20977544
Carcinoma Embryonal Inhibit 20977544
Carcinoma Hepatocellular Associate 27342975, 31094091