| Tag | Content |
|---|---|
| Uniprot ID | O88879; A2RRK8; |
| Entrez ID | 11783 |
| Genbank protein ID | AAC62458.1; AAI31685.1; AAI31684.1; |
| Genbank nucleotide ID | NM_001042558.1; NM_009684.2; |
| Ensembl protein ID | ENSMUSP00000020157; ENSMUSP00000125291; |
| Ensembl nucleotide ID | ENSMUSG00000019979 |
| Gene name | Apoptotic protease-activating factor 1 |
| Gene symbol | Apaf1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9216040; 10656767; 16887819; 23892366; 9753320; |
| 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 (By similarity). |
| Sequence | MDAKARNCLL QHREALEKDI KTSYIMDHMI SNGVLSVIEE EKVKSQATQY QRAAALIKMI 60 LNKDNCAYIS FYNALLHEGY KDLAALLQSG LPLVSSSSGK DTDGGITSFV RTVLCEGGVP 120 QRPVIFVTRK KLVHAIQQKL WKLNGEPGWV TIYGMAGCGK SVLAAEAVRD HSLLEGCFSG 180 GVHWVSIGKQ DKSGLLMKLQ NLCMRLDQEE SFSQRLPLNI EEAKDRLRVL MLRKHPRSLL 240 ILDDVWDPWV LKAFDNQCQI LLTTRDKSVT DSVMGPKHVV PVESGLGREK GLEILSLFVN 300 MKKEDLPAEA HSIIKECKGS PLVVSLIGAL LRDFPNRWAY YLRQLQNKQF KRIRKSSSYD 360 YEALDEAMSI SVEMLREDIK DYYTDLSILQ KDVKVPTKVL CVLWDLETEE VEDILQEFVN 420 KSLLFCNRNG KSFCYYLHDL QVDFLTEKNR SQLQDLHRKM VTQFQRYYQP HTLSPDQEDC 480 MYWYNFLAYH MASANMHKEL CALMFSLDWI KAKTELVGPA HLIHEFVAYR HILDEKDCAV 540 CENFQEFLSL NGHLLGRQPF PNIVQLGLCE PETSEVYRQA KLQAKQEGDT GRLYLEWINK 600 KTIKNLSRLV VRPHTDAVYH ACFSQDGQRI ASCGADKTLQ VFKAETGEKL LDIKAHEDEV 660 LCCAFSSDDS YIATCSADKK VKIWDSATGK LVHTYDEHSE QVNCCHFTNK SNHLLLATGS 720 NDFFLKLWDL NQKECRNTMF GHTNSVNHCR FSPDDELLAS CSADGTLRLW DVRSANERKS 780 INVKRFFLSS EDPPEDVEVI VKCCSWSADG DKIIVAAKNK VLLFDIHTSG LLAEIHTGHH 840 STIQYCDFSP YDHLAVIALS QYCVELWNID SRLKVADCRG HLSWVHGVMF SPDGSSFLTA 900 SDDQTIRVWE TKKVCKNSAI VLKQEIDVVF QENETMVLAV DNIRGLQLIA GKTGQIDYLP 960 EAQVSCCCLS PHLEYVAFGD EDGAIKIIEL PNNRVFSSGV GHKKAVRHIQ FTADGKTLIS 1020 SSEDSVIQVW NWQTGDYVFL QAHQETVKDF RLLQDSRLLS WSFDGTVKVW NVITGRIERD 1080 FTCHQGTVLS CAISSDATKF SSTSADKTAK IWSFDLLSPL HELKGHNGCV RCSAFSLDGI 1140 LLATGDDNGE IRIWNVSDGQ LLHSCAPISV EEGTATHGGW VTDVCFSPDS KTLVSAGGYL 1200 KWWNVATGDS SQTFYTNGTN LKKIHVSPDF RTYVTVDNLG ILYILQVLE 1249 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | APAF1 | A0A452G611 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | APAF1 | 317 | O14727 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Apaf1 | 11783 | O88879 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | APAF1 | A0A2I3T3Q9 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Apaf1 | 78963 | Q9EPV5 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | apaf1 | 58131 | A5WVJ8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005524 | ATP binding | IEA |
| GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process | IDA |
| GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process | IBA |
| GO:0031072 | heat shock protein binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0042802 | identical protein binding | IPI |
| GO:0043531 | ADP binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001666 | response to hypoxia | IEA |
| GO:0001822 | kidney development | IEA |
| GO:0001843 | neural tube closure | IMP |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | ISO |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IGI |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IMP |
| GO:0007275 | multicellular organism development | IMP |
| GO:0007420 | brain development | IMP |
| GO:0007568 | aging | IEA |
| GO:0007584 | response to nutrient | IEA |
| GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | ISO |
| GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | IBA |
| GO:0010659 | cardiac muscle cell apoptotic process | ISO |
| GO:0030154 | cell differentiation | IEA |
| GO:0030900 | forebrain development | IMP |
| GO:0051402 | neuron apoptotic process | IGI |
| GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | IMP |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | ISO |
| GO:1902510 | regulation of apoptotic DNA fragmentation | IGI |
| GO:2001235 | positive regulation of apoptotic signaling pathway | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005829 | cytosol | IDA |
| GO:0005829 | cytosol | IBA |
| GO:0005829 | cytosol | TAS |
| GO:0032991 | protein-containing complex | ISO |
| GO:0043293 | apoptosome | ISO |
| GO:0043293 | apoptosome | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-109581 | Apoptosis | IEA |
| R-MMU-109606 | Intrinsic Pathway for Apoptosis | IEA |
| R-MMU-111458 | Formation of apoptosome | IEA |
| R-MMU-111461 | Cytochrome c-mediated apoptotic response | IEA |
| R-MMU-111471 | Apoptotic factor-mediated response | IEA |
| R-MMU-168249 | Innate Immune System | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-5357801 | Programmed Cell Death | IEA |
| R-MMU-6798695 | Neutrophil degranulation | IEA |
| R-MMU-9627069 | Regulation of the apoptosome activity | IEA |
| InterPro ID | InterPro Term |
|---|---|
| IPR017251 | Apaf-1 |
| IPR041452 | APAF1_C |
| IPR037963 | APAF1_CARD_dom |
| IPR024977 | Apc4_WD40_dom |
| IPR001315 | CARD |
| IPR011029 | DEATH-like_dom_sf |
| IPR020472 | G-protein_beta_WD-40_rep |
| IPR002182 | NB-ARC |
| IPR027417 | P-loop_NTPase |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf |
| IPR001680 | WD40_repeat |
| IPR019775 | WD40_repeat_CS |
| IPR017986 | WD40_repeat_dom |
| IPR036322 | WD40_repeat_dom_sf |
| IPR036388 | WH-like_DNA-bd_sf |