Gene: Apaf1

Basic information

Tag Content
Uniprot ID Q9EPV5
Entrez ID 78963
Genbank protein ID AAG35067.1
Genbank nucleotide ID NM_023979.1
Ensembl protein ID ENSRNOP00000010869
Ensembl nucleotide ID ENSRNOG00000008022
Gene name Apoptotic protease-activating factor 1
Gene symbol Apaf1
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Regulates programmed cell death; necessary for normal brain development. Participates with pro-caspase-9 (Apaf-3) in the cytochrome c-dependent activation of caspase-3, leading to apoptosis. This activation requires ATP (By similarity).
Sequence
MDAKARNCLL QHKEALEKDI KTSYIMDHMI SNGVLTVVEE EKVKSQATQY QRAAALIKMI 60
LNKDNYAYIS FYNALLHEGY KDLAGLLHSG LPLVSSSSGK DTDGGNTSFV RTVLCEGGVP 120
QRPVIFVTRK KLVSAIQQKL WKLNGEPGWV TIYGMAGCGK SVLAAEAVRD HALLEGCFSG 180
GVHWVSIGKQ DKSGLLMKLQ NLCTRLGQEE SFSQRLPLNI EEAKDRLRVL MLRKHPRSLL 240
ILDDVWDPWV LKAFDNQCQI LLTTRDKSVT DSVMGPKYVI PVESGLGKEK GLEILSLFVN 300
MKKEDLPVEA HSIIKECKGS PLVVSLVGAL LRDFPNRWAY YLRQLQNKQF KRIRKSSSYD 360
YEALDEAMSI SVEMLREDIK DYYTDLSILQ KDVKVPTKVL CVLWDLETEE VEDILQEFVN 420
KSLLFCNRNG KSFCYYLHDL QVDFLTEKNR SQLQDLHRKM VTQFQRYHQP HTLSPGQEDC 480
MYWYNFLAYH MASAGMHKEL CALMFSLDWI KAKTELVGPA HLIHEFVEYR HILDEKDCAV 540
CENFQEFLSL NGHLLGRQPF PNIVQLGLCE PETSEVYQQA KLQAKQEVDT GRLYLEWINK 600
KTIKNLSRLV VRPHTDAVYH ACFSQDGQRI ASCGADKTLQ VFKAETGEKL LDIKAHEDEV 660
LCCAFSSDDS YIATCSVDKK VKIWDSGTGK LVHTYEEHSE QVNCCHFTNK SNHLLLATGS 720
NDSFLKLWDL NQKECRNTMF GHTNSVTHCR FSPDDELLAS CSADGTLKLW DVRSANEKKS 780
INVKRFFLSS EDPPEDVEVI VKCCSWSADG DRIIVAAKNK VLLLDIHTSG LLTEIHTGHH 840
STIQYCDFSP YDHLAVIALS QYCVELWNID SRVKVADCRG HLSWVHGVMF SPDGSSFLTA 900
SDDQTIRVWE TRKVCKNSAI VLKQEIDVVF QENEMMVLAV DNIRGLQLIA GKTGQIDYLP 960
EAQVSCCCLS PHLEYVAFGD EEGAIKIIEL PNNRVFSSGI GHKKAVRHIQ FTADGKTLIS 1020
SSEDSVIQVW NWQTEEYVFL QAHQETVKDF RLLRDSRLLS WSFDGTVKVW NVITGRIERD 1080
FTCHQGTVLS CAISSDATKF SSTSADKTAK IWSFELPSPL HELKGHNSCV RCSAFSLDGI 1140
LLATGDDNGE IRIWNVSDGQ LLHLCAPISI EEGTATHGGW VTDVCFSPDR KMLVSAGGYL 1200
KWWNVVTGES 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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologAPAF1A0A452G611Capra hircusPredictionMore>>
1:1 orthologAPAF1317O14727Homo sapiensPredictionMore>>
1:1 orthologApaf111783O88879CPOMus musculusPublicationMore>>
1:1 orthologAPAF1A0A2I3T3Q9Pan troglodytesPredictionMore>>
1:1 orthologApaf178963Q9EPV5Rattus norvegicusPredictionMore>>
1:1 orthologapaf158131A5WVJ8Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0043293 apoptosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005634 nucleus
GO:0032991 protein-containing complex
GO:0043531 ADP binding
GO:0005524 ATP binding
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0031072 heat shock protein binding
GO:0042802 identical protein binding
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0007568 aging
GO:0007420 brain development
GO:0010659 cardiac muscle cell apoptotic process
GO:0030154 cell differentiation
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0030900 forebrain development
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0001822 kidney development
GO:0007275 multicellular organism development
GO:0001843 neural tube closure
GO:0051402 neuron apoptotic process
GO:2001235 positive regulation of apoptotic signaling pathway
GO:1902510 regulation of apoptotic DNA fragmentation
GO:0001666 response to hypoxia
GO:0007584 response to nutrient

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0053 Apoptosis
KW-0067 ATP-binding
KW-0106 Calcium
KW-0963 Cytoplasm
KW-0547 Nucleotide-binding
KW-1185 Reference proteome
KW-0677 Repeat
KW-0853 WD repeat

Interpro

InterPro ID InterPro Term
IPR017251 Apaf-1
IPR041452 APAF1_C
IPR037963 APAF1_CARD_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

PROSITE

PROSITE ID PROSITE Term
PS50209 CARD
PS00678 WD_REPEATS_1
PS50082 WD_REPEATS_2
PS50294 WD_REPEATS_REGION

Pfam

Pfam ID Pfam Term
PF17908 APAF1_C
PF00619 CARD
PF00931 NB-ARC
PF00400 WD40