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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
APAF1-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 15972851, 18587015
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15899912, 18587015, 23093495
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 18587015
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17882496
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16231180
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15899912
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 24424093
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 16046141
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24920239 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 15367334 Associate
★☆☆☆☆
Found in Text Mining only