| Tag | Content |
|---|---|
| UniProt Accession | APAF_HUMAN; O14727; |
| Entrez ID | 317 |
| GenBank Protein ID | NM_001160.2; NM_013229.2; NM_181861.1; NM_181868.1; NM_181869.1; |
| GenBank Nucleotide ID | NP_001151.1; NP_037361.1; NP_863651.1; NP_863658.1; NP_863659.1; |
| Protein Name | Apoptotic protease-activating factor 1 (APAF-1) |
| Gene Name | APAF1; KIAA0413 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | 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. |
| Sequence (Fasta) | MDAKARNCLL QHREALEKDI KTSYIMDHMI SDGFLTISEE EKVRNEPTQQ QRAAMLIKMI 60 LKKDNDSYVS FYNALLHEGY KDLAALLHDG IPVVSSSSGK DSVSGITSYV RTVLCEGGVP 120 QRPVVFVTRK KLVNAIQQKL SKLKGEPGWV TIHGMAGCGK SVLAAEAVRD HSLLEGCFPG 180 GVHWVSVGKQ DKSGLLMKLQ NLCTRLDQDE SFSQRLPLNI EEAKDRLRIL MLRKHPRSLL 240 ILDDVWDSWV LKAFDSQCQI LLTTRDKSVT DSVMGPKYVV PVESSLGKEK GLEILSLFVN 300 MKKADLPEQA HSIIKECKGS PLVVSLIGAL LRDFPNRWEY YLKQLQNKQF KRIRKSSSYD 360 YEALDEAMSI SVEMLREDIK DYYTDLSILQ KDVKVPTKVL CILWDMETEE VEDILQEFVN 420 KSLLFCDRNG KSFRYYLHDL QVDFLTEKNC SQLQDLHKKI ITQFQRYHQP HTLSPDQEDC 480 MYWYNFLAYH MASAKMHKEL CALMFSLDWI KAKTELVGPA HLIHEFVEYR HILDEKDCAV 540 SENFQEFLSL NGHLLGRQPF PNIVQLGLCE PETSEVYQQA KLQAKQEVDN GMLYLEWINK 600 KNITNLSRLV VRPHTDAVYH ACFSEDGQRI ASCGADKTLQ VFKAETGEKL LEIKAHEDEV 660 LCCAFSTDDR FIATCSVDKK VKIWNSMTGE LVHTYDEHSE QVNCCHFTNS SHHLLLATGS 720 SDCFLKLWDL NQKECRNTMF GHTNSVNHCR FSPDDKLLAS CSADGTLKLW DATSANERKS 780 INVKQFFLNL EDPQEDMEVI VKCCSWSADG ARIMVAAKNK IFLFDIHTSG LLGEIHTGHH 840 STIQYCDFSP QNHLAVVALS QYCVELWNTD SRSKVADCRG HLSWVHGVMF SPDGSSFLTS 900 SDDQTIRLWE TKKVCKNSAV MLKQEVDVVF QENEVMVLAV DHIRRLQLIN GRTGQIDYLT 960 EAQVSCCCLS PHLQYIAFGD ENGAIEILEL VNNRIFQSRF QHKKTVWHIQ FTADEKTLIS 1020 SSDDAEIQVW NWQLDKCIFL RGHQETVKDF RLLKNSRLLS WSFDGTVKVW NIITGNKEKD 1080 FVCHQGTVLS CDISHDATKF SSTSADKTAK IWSFDLLLPL HELRGHNGCV RCSAFSVDST 1140 LLATGDDNGE IRIWNVSNGE LLHLCAPLSE EGAATHGGWV TDLCFSPDGK MLISAGGYIK 1200 WWNVVTGESS QTFYTNGTNL KKIHVSPDFK TYVTVDNLGI LYILQTLE 1249 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 7) (view all) | MESH:D002292
; Carcinoma, Renal Cell MESH:D002295 ; Carcinoma, Transitional Cell MESH:D019465 ; Craniofacial Abnormalities MESH:D005124 ; Eye Abnormalities MESH:D008106 ; Liver Cirrhosis, Experimental MESH:D012163 ; Retinal Detachment |
| DisGeNet (Curated) (count: 9) (view all) | C0007134; Renal Cell Carcinoma
C0007138; Carcinoma, Transitional Cell C0015393; Eye Abnormalities C0023893; Liver Cirrhosis, Experimental C0035305; Retinal Detachment C0037268; Skin Abnormalities |
| HGMD (count: 10) (view all) | CI068162; Depression; Small insertions
CM068141; Reduced function ?; Missense/nonsense CM068147; Reduced function; Missense/nonsense CM068145; Depression; Missense/nonsense CM068149; Major depression; Missense/nonsense CM068144; Major depression; Missense/nonsense |
| GWASdb (count: 6) | rs7303112; Triglycerides; coronary artery disease|lipid metabolism disorder|arteriosclerosis
rs7313090; Suicide attempts in bipolar disorder; bipolar disorder rs919699; Suicide attempts in bipolar disorder; bipolar disorder rs11831003; Multiple complex diseases; Null rs11109583; Response to cytidine analogues (gemcitabine); cancer rs1866477; Suicide attempts in bipolar disorder; bipolar disorder |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 19) (view all) | 1103 DATKFSSTSADKTAK dbPAF
1108 SSTSADKTAKIWSFD dbPAF 204 MKLQNLCTRLDQDES dbPAF 238 MLRKHPRSLLILDDV dbPAF 24 EKDIKTSYIMDHMIS dbPAF 248 ILDDVWDSWVLKAFD dbPAF |
| Acetylation (count: 1) | 679 IATCSVDKKVKIWNS PLMD |
| Ubiquitination (count: 13) (view all) | 198 DKSGLLMKLQNLCTR PLMD
224 PLNIEEAKDRLRILM PLMD 267 ILLTTRDKSVTDSVM PLMD 277 TDSVMGPKYVVPVES PLMD 288 PVESSLGKEKGLEIL PLMD 290 ESSLGKEKGLEILSL PLMD |
| Malonylation (count: 1) | 288 PVESSLGKEKGLEIL PLMD |
| Network | Interaction | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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