Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
317
Gene name Gene Name - the full gene name approved by the HGNC.
Apoptotic peptidase activating factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APAF1
Synonyms (NCBI Gene) Gene synonyms aliases
APAF-1, CED4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CED4
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002410 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western 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 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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
GO:0005515 Function Protein binding IPI 9267021, 9922454, 10206961, 10376594, 10949025, 11112785, 11821383, 15735003, 17274640, 19494828, 20462491, 21371431, 21827945, 22246185
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602233 576 ENSG00000120868
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 17133271
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724 17133271
Retinal detachment Retinal Detachment rs1555976049, rs1592230091 18497877
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 17133271 ClinVar
Mental depression Unipolar Depression, Major Depressive Disorder 19455599, 16231040 ClinVar
Mental Depression depressive disorder GenCC
Associations from Text Mining
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