KEGG   Homo sapiens (human): 317
Entry
317               CDS       T01001                                 
Symbol
APAF1, APAF-1, CED4
Name
(RefSeq) apoptotic peptidase activating factor 1
  KO
K02084  apoptotic protease-activating factor
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa04115  p53 signaling pathway
hsa04210  Apoptosis
hsa04215  Apoptosis - multiple species
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05134  Legionellosis
hsa05152  Tuberculosis
hsa05160  Hepatitis C
hsa05161  Hepatitis B
hsa05162  Measles
hsa05164  Influenza A
hsa05168  Herpes simplex virus 1 infection
hsa05169  Epstein-Barr virus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
hsa05417  Lipid and atherosclerosis
Network
nt06161  Human immunodeficiency virus 1 (HIV-1)
nt06162  Hepatitis B virus (HBV)
nt06163  Hepatitis C virus (HCV)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06165  Epstein-Barr virus (EBV)
nt06166  Human papillomavirus (HPV)
nt06167  Human cytomegalovirus (HCMV)
nt06168  Herpes simplex virus 1 (HSV-1)
nt06170  Influenza A virus (IAV)
nt06231  Apoptosis (cancer)
nt06260  Colorectal cancer
nt06263  Hepatocellular carcinoma
nt06267  Small cell lung cancer
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06524  Apoptosis
nt06528  Calcium signaling
  Element
N00098  Intrinsic apoptotic pathway
N00100  BCL2-overexpression to intrinsic apoptotic pathway
N00146  Crosstalk between extrinsic and intrinsic apoptotic pathways
N00449  HIV Tat/Nef to crosstalk between extrinsic and intrinsic apoptotic pathways
N00478  EBV BARF1 to intrinsic apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01005  Mutation-caused aberrant Abeta to crosstalk between extrinsic and intrinsic apoptotic pathways
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
N01047  Mutation-activated LRRK2 to intrinsic apoptotic pathway
N01048  Mutation-inactivated PINK1 to intrinsic apoptotic pathway
N01049  Mutation-inactivated PRKN to intrinsic apoptotic pathway
N01050  Mutation-inactivated PINK1 to intrinsic apoptotic pathway
N01135  Mutation-caused aberrant SOD1 to intrinsic apoptotic pathway
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01200  Scrapie conformation PrPSc to transport of calcium
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    317 (APAF1)
   04215 Apoptosis - multiple species
    317 (APAF1)
   04115 p53 signaling pathway
    317 (APAF1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    317 (APAF1)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    317 (APAF1)
  09172 Infectious disease: viral
   05161 Hepatitis B
    317 (APAF1)
   05160 Hepatitis C
    317 (APAF1)
   05164 Influenza A
    317 (APAF1)
   05162 Measles
    317 (APAF1)
   05168 Herpes simplex virus 1 infection
    317 (APAF1)
   05169 Epstein-Barr virus infection
    317 (APAF1)
  09171 Infectious disease: bacterial
   05134 Legionellosis
    317 (APAF1)
   05152 Tuberculosis
    317 (APAF1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    317 (APAF1)
   05012 Parkinson disease
    317 (APAF1)
   05014 Amyotrophic lateral sclerosis
    317 (APAF1)
   05016 Huntington disease
    317 (APAF1)
   05020 Prion disease
    317 (APAF1)
   05022 Pathways of neurodegeneration - multiple diseases
    317 (APAF1)
  09166 Cardiovascular disease
   05417 Lipid and atherosclerosis
    317 (APAF1)
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    317 (APAF1)
SSDB
Motif
Pfam: WD40 NB-ARC APAF1_C APAF-1-like_WHD ANAPC4_WD40 CARD NBCH_WD40 RMC1_N eIF2A WD40_like CARD_2 Ge1_WD40 AAA_16 Utp8 Nup160 AAA_22 NACHT AAA_18 nSTAND1
Other DBs
NCBI-GeneID: 317
NCBI-ProteinID: NP_863651
OMIM: 602233
HGNC: 576
Ensembl: ENSG00000120868
UniProt: O14727
Structure
Position
12:98645290..98735433
AA seq 1248 aa
MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVRNEPTQQQRAAMLIKMI
LKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSGKDSVSGITSYVRTVLCEGGVP
QRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDHSLLEGCFPG
GVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRILMLRKHPRSLL
ILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLGKEKGLEILSLFVN
MKKADLPEQAHSIIKECKGSPLVVSLIGALLRDFPNRWEYYLKQLQNKQFKRIRKSSSYD
YEALDEAMSISVEMLREDIKDYYTDLSILQKDVKVPTKVLCILWDMETEEVEDILQEFVN
KSLLFCDRNGKSFRYYLHDLQVDFLTEKNCSQLQDLHKKIITQFQRYHQPHTLSPDQEDC
MYWYNFLAYHMASAKMHKELCALMFSLDWIKAKTELVGPAHLIHEFVEYRHILDEKDCAV
SENFQEFLSLNGHLLGRQPFPNIVQLGLCEPETSEVYQQAKLQAKQEVDNGMLYLEWINK
KNITNLSRLVVRPHTDAVYHACFSEDGQRIASCGADKTLQVFKAETGEKLLEIKAHEDEV
LCCAFSTDDRFIATCSVDKKVKIWNSMTGELVHTYDEHSEQVNCCHFTNSSHHLLLATGS
SDCFLKLWDLNQKECRNTMFGHTNSVNHCRFSPDDKLLASCSADGTLKLWDATSANERKS
INVKQFFLNLEDPQEDMEVIVKCCSWSADGARIMVAAKNKIFLFDIHTSGLLGEIHTGHH
STIQYCDFSPQNHLAVVALSQYCVELWNTDSRSKVADCRGHLSWVHGVMFSPDGSSFLTS
SDDQTIRLWETKKVCKNSAVMLKQEVDVVFQENEVMVLAVDHIRRLQLINGRTGQIDYLT
EAQVSCCCLSPHLQYIAFGDENGAIEILELVNNRIFQSRFQHKKTVWHIQFTADEKTLIS
SSDDAEIQVWNWQLDKCIFLRGHQETVKDFRLLKNSRLLSWSFDGTVKVWNIITGNKEKD
FVCHQGTVLSCDISHDATKFSSTSADKTAKIWSFDLLLPLHELRGHNGCVRCSAFSVDST
LLATGDDNGEIRIWNVSNGELLHLCAPLSEEGAATHGGWVTDLCFSPDGKMLISAGGYIK
WWNVVTGESSQTFYTNGTNLKKIHVSPDFKTYVTVDNLGILYILQTLE
NT seq 3747 nt   +upstreamnt  +downstreamnt
atggatgcaaaagctcgaaattgtttgcttcaacatagagaagctctggaaaaggacatc
aagacatcctacatcatggatcacatgattagtgatggatttttaacaatatcagaagag
gaaaaagtaagaaatgagcccactcaacagcaaagagcagctatgctgattaaaatgata
cttaaaaaagataatgattcctacgtatcattctacaatgctctactacatgaaggatat
aaagatcttgctgcccttctccatgatggcattcctgttgtctcttcttccagtggtaaa
gattcagttagtggaataacttcgtatgtaaggacagtcctgtgtgaaggtggagtacca
cagaggccagttgtttttgtcacaaggaagaagctggtgaatgcaattcagcagaagctc
tccaaattgaaaggtgaaccaggatgggtcaccatacatggaatggcaggctgtgggaag
tctgtattagctgcagaagctgttagagatcattcccttttagaaggttgtttcccaggg
ggagtgcattgggtttcagttgggaaacaagacaaatctgggcttctgatgaaactgcag
aatctttgcacacggttggatcaggatgagagtttttcccagaggcttccacttaatatt
gaagaggctaaagaccgtctccgcattctgatgcttcgcaaacacccaaggtctctcttg
atcttggatgatgtttgggactcttgggtgttgaaagcttttgacagtcagtgtcagatt
cttcttacaaccagagacaagagtgttacagattcagtaatgggtcctaaatatgtagtc
cctgtggagagttccttaggaaaggaaaaaggacttgaaattttatccctttttgttaat
atgaagaaggcagatttgccagaacaagctcatagtattataaaagaatgtaaaggctct
ccccttgtagtatctttaattggtgcacttttacgtgattttcccaatcgctgggagtac
tacctcaaacagcttcagaataagcagtttaagagaataaggaaatcttcgtcttatgat
tatgaggctctagatgaagccatgtctataagtgttgaaatgctcagagaagacatcaaa
gattattacacagatctttccatccttcagaaggacgttaaggtgcctacaaaggtgtta
tgtattctctgggacatggaaactgaagaagttgaagacatactgcaggagtttgtaaat
aagtctcttttattctgtgatcggaatggaaagtcgtttcgttattatttacatgatctt
caagtagattttcttacagagaagaattgcagccagcttcaggatctacataagaagata
atcactcagtttcagagatatcaccagccgcatactctttcaccagatcaggaagactgt
atgtattggtacaactttctggcctatcacatggccagtgccaagatgcacaaggaactt
tgtgctttaatgttttccctggattggattaaagcaaaaacagaacttgtaggccctgct
catctgattcatgaatttgtggaatacagacatatactagatgaaaaggattgtgcagtc
agtgagaattttcaggagtttttatctttaaatggacaccttcttggacgacagccattt
cctaatattgtacaactgggtctctgtgagccggaaacttcagaagtttatcagcaagct
aagctgcaggccaagcaggaggtcgataatggaatgctttacctggaatggataaacaaa
aaaaacatcacgaatctttcccgcttagttgtccgcccccacacagatgctgtttaccat
gcctgcttttctgaggatggtcagagaatagcttcttgtggagctgataaaaccttacag
gtgttcaaagctgaaacaggagagaaacttctagaaatcaaggctcatgaggatgaagtg
ctttgttgtgcattctctacagatgacagatttatagcaacctgctcagtggataaaaaa
gtgaagatttggaattctatgactggggaactagtacacacctatgatgagcactcagag
caagtcaattgctgccatttcaccaacagtagtcatcatcttctcttagccactgggtca
agtgactgcttcctcaaactttgggatttgaatcaaaaagaatgtcgaaataccatgttt
ggtcatacaaattcagtcaatcactgcagattttcaccagatgataagcttttggctagt
tgttcagctgatggaaccttaaagctttgggatgcgacatcagcaaatgagaggaaaagc
attaatgtgaaacagttcttcctaaatttggaggaccctcaagaggatatggaagtgata
gtgaagtgttgttcgtggtctgctgatggtgcaaggataatggtggcagcaaaaaataaa
atctttctttttgacattcatactagtggcctattgggagaaatccacacgggccatcac
agcaccatccagtactgtgacttctccccacaaaaccatttggcagtggttgctttgtcc
cagtactgtgtagagttgtggaatacagactcacgttcaaaggtggctgattgcagagga
catttaagttgggttcatggtgtgatgttttctcctgatggatcatcatttttgacatct
tctgatgaccagacaatcaggctctgggagacaaagaaagtatgtaagaactctgctgta
atgttaaagcaagaagtagatgttgtgtttcaagaaaatgaagtgatggtccttgcagtt
gaccatataagacgtctgcaactcattaatggaagaacaggtcagattgattatctgact
gaagctcaagttagctgctgttgcttaagtccacatcttcagtacattgcatttggagat
gaaaatggagccattgagattttagaacttgtaaacaatagaatcttccagtccaggttt
cagcacaagaaaactgtatggcacatccagttcacagccgatgagaagactcttatttca
agttctgatgatgctgaaattcaggtatggaattggcaattggacaaatgtatctttcta
cgaggccatcaggaaacagtgaaagactttagactcttgaaaaattcaagactgctttct
tggtcatttgatggaacagtgaaggtatggaatattattactggaaataaagaaaaagac
tttgtctgtcaccagggtacagtactttcttgtgacatttctcacgatgctaccaagttt
tcatctacctctgctgacaagactgcaaagatctggagttttgatctccttttgccactt
catgaattgaggggccacaacggctgtgtgcgctgctctgccttctctgtggacagtacc
ctgctggcaacgggagatgacaatggagaaatcaggatatggaatgtctcaaacggtgag
cttcttcatttgtgtgctccgctttcagaagaaggagctgctacccatggaggctgggtg
actgacctttgcttttctccagatggcaaaatgcttatctctgctggaggatatattaag
tggtggaacgttgtcactggggaatcctcacagaccttctacacaaatggaaccaatctt
aagaaaatacacgtgtcccctgacttcaaaacatatgtgactgtggataatcttggtatt
ttatatattttacagactttagaataa

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