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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
APAF1 317 Apoptotic peptidase activating factor 1  12CED4; APAF-1 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
22481083   2012Cell line : -

Source : -

Sample Type : CRC tumor and Normal tissue

No. of Sample : 152

Stage : -

ImmunohistochemistryUnknown-Pro-caspase 3 and APAF1 proteins may be usefull for predicting both prognosis and response therapy.

21689364   2012Cell line : -

Source : -

Sample Type : CRC tumor and Normal tissue

No. of Sample : -

Stage : TNM Stage II, III

Immunohistochemistry, Spearman's correlation tests.Up-regulation-Immunohistochemical evaluation of initial biopsy specimens of rectal cancer with APAF-1, Cox-2 and VEGF may predict tumour response to neoadjuvant therapy in patients with advanced rectal adenocarcinoma.

APAF-1 expression was found to be significantly associated with tumour regression grade.


Gene Details



Chromosome: 12; NC_000012.11 (99039078..99129211)

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Gene Type protein coding
Gene Family WD repeat domain containing
Description 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 oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].  
Chromosome 12
Location 12q23
Start 98645228  
End 98735433  
Strand +  
Gene Sequence

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Length 90206  
OMIM ID 602233   
HGNC ID HGNC:576   
Unigene ID Hs.552567    
Ensembl ID ENSG00000120868   
PharmGKB ID -   

mRNA Information


mRNA ID XM_011538254.1
Exon join(1..608,3092..3270,3399..3588,4260..4457,13933..14116, 17229..17341,17448..17579,20326..20564,20963..21130, 22286..22417,25746..25859,26308..26492,32198..32324, 35050..35175,37916..38047,41521..41646,46608..46702, 54181..54315)  
mRNA Sequence

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Length 7204  



CDS Information


   
Location join(3133..3270,3399..3588,4260..4457,13933..14116, 17229..17341,17448..17579,20326..20564,20963..21130, 22286..22417,25746..25859,26308..26492,32198..32324, 35050..35175,37916..38047,41521..41646,54181..54342, 58144..58272,61258..61383,63358..63477,67092..67208, 70200..70325,77966..78085,78412..78537,80188..80313, 81946..82089,87193..87339)
CDS Sequence

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CCDS ID CCDS9069.1



Protein Information


      
Protein IDNP_001151.1
Protein NameApoptotic peptidase activating factor 1
Molecular Wt. (Da)135850
Protein Sequence

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Length 1194  
Uniprot IDQ08462
Ensembl Protein ID ENSP00000342952  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation248;-
SPhosphorylation238;-
SPhosphorylation227;-
SPhosphorylation237;-
SPhosphorylation248;-
SPhosphorylation238;-
SPhosphorylation227;-
SPhosphorylation237;-
SPhosphorylation248;-
SPhosphorylation238;-
TPhosphorylation204;-
TPhosphorylation193;-
TPhosphorylation204;-
TPhosphorylation193;-
TPhosphorylation204;-

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                          
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
598BCL2L12497NP_612815.1yeast 2-hybrid9   539   746   948   872   010   000   000   
836CASP32799NP_004337.2in vitro11550094   
841CASP83459NP_001073594.1in vivo9539746   
3303HSPA1A774NP_005336.3in vivo10934467   
22861NLRP17364NP_127497.1in vivo1   111   311   517   418   780   
54205CYCS479NP_061820.1in vivo926   702   112   147   322   


Pathway Information


                                                            
Pathway Name Pathway ID
Alzheimer's disease hsa05010
Amyotrophic lateral sclerosis (ALS) hsa05014
Apoptosis hsa04210
Hepatitis B hsa05161
Huntington's disease hsa05016
Legionellosis hsa05134
p53 signaling pathway hsa04115
Parkinson's disease hsa05012
Small cell lung cancer hsa05222
Tuberculosis hsa05152


Structure Information


PDB ID1C15
Resolution-
MethodSOLUTION NMR�
Chains A  
Molecule APOPTOTIC PROTEASE ACTIVATING FACTOR 1  
Model View



Domain Information




ID Location Description
cd00200607-910  WD40
cl02567607-910  WD40 superfamily
cd00200961-1234  WD40
cl02567961-1234  WD40 superfamily
cd08323Jul-92  CARD_APAF1
cl14633Jul-92  DD superfamily
cd00200879-1203  WD40
cd00200652-1113  WD40
cd002001002-1213  WD40
cd01671Sep-87  CARD
pfam00619Jun-90  CARD
cd002001119-1213  WD40
pfam00400733-771  WD40
smart00320732-771  WD40
smart00320646-685  WD40
pfam00400647-685  WD40
smart00320871-910  WD40
pfam00400872-909  WD40
smart00320688-729  WD40
cd002001176-1248  WD40
pfam004001119-1155  WD40
smart003201119-1155  WD40
pfam00400689-729  WD40
pfam13191126-245  AAA_16
cl21455126-245  P-loop_NTPase superfamily
smart003201176-1203  WD40
cd08329Nov-75  CARD_BIRC2_BIRC3
pfam00400614-643  WD40
pfam004001176-1203  WD40
smart00320610-643  WD40
pfam004001075-1113  WD40
smart003201074-1113  WD40
cd08332Jan-87  CARD_CASP2
pfam13401150-245  AAA_22
cd08326Jun-87  CARD_CASP9
pfam004001002-1031  WD40
pfam00931129-414  NB-ARC
COG2319709-1234  WD40
COG2319651-1033  WD40
COG2319610-926  WD40
COG2319620-953  WD40
COG2319836-1243  WD40
PLN00181629-786  PLN00181
COG23191042-1234  WD40
PLN00181661-868  PLN00181
PLN00181956-1155  PLN00181
COG2319598-685  WD40
PLN00181624-819  PLN00181
PLN001811056-1221  PLN00181
pfam08662796-909  eIF2A
PTZ004211014-1111  PTZ00421


Ontology Information


   
HPRD ID52
Molecular ClassAdapter molecule
Molecular FunctionAdenylate cyclase activity (GO:0004016)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
O14727DB00171Adenosine triphosphateSmallMoleculeDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO