APAF1 - apoptotic peptidase activating factor 1 Gene

Also Known as CED4; APAF-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 317

About APAF1

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,645,290-98,735,433 (from NCBI)

This gene has 13 transcripts (splice variants) and 206 orthologues. Ubiquitous expression in bone marrow (RPKM 6.1), appendix (RPKM 5.1) and 25 other tissues.

Summary

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]

APAF1 Products (5)

mRNA	Protein	Name
NM_001160.3	NP_001151.1	apoptotic protease-activating factor 1 isoform b
NM_013229.3	NP_037361.1	apoptotic protease-activating factor 1 isoform a
NM_181861.2	NP_863651.1	apoptotic protease-activating factor 1 isoform c
NM_181868.2	NP_863658.1	apoptotic protease-activating factor 1 isoform d
NM_181869.2	NP_863659.1	apoptotic protease-activating factor 1 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9267021	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	21827945	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IDA IDA: Inferred from direct assay	9267021	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of apoptosome	IDA IDA: Inferred from direct assay	21827945	GOA
part of apoptosome	IPI IPI: Inferred from physical interaction	10206961	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	11821383	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APAF1 Protein Structure

CARD

NB-ARC

WD40

0
200
400
600
800
1000
1248 a.a.

Protein Preferred Names	Protein Names
apoptotic protease-activating factor 1

APAF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	APAF1	O14727	CYCS	Homo sapiens	P99999	Pull Down	10206961
Intra	APAF1	O14727	CYCS	Homo sapiens	P99999	Cosedimentation	10206961
Intra	APAF1	O14727	CYCS	Homo sapiens	P99999	CoIP	9267021
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	GMS	19494828
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	EM	21827945
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	Cosedimentation	10206961
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	PAL	21827945
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	X-Ray Diffraction	10376594
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	EM	20462491
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	Solution Sedimentation	20462491
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	GMS	10376594
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	Density Sedimentation	21827945
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	Pull Down	10206961
Intra	APAF1	O14727	CASP9	Homo sapiens	P55211	CoIP	9390557

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant APAF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700502	APAF1 Protein, Human (P. pastoris, His)	O14727 (S104-L415)	≥ 90%, as determined by reducing SDS-PAGE.

APAF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81736	APAF1 Antibody (YA1481)	WB, IHC-P, ICC/IF	Human, Mouse
HY-P83806	APAF1 Antibody (YA3503)	ICC/IF, FC, ELISA	Human
HY-P83806A	APAF1 Antibody (YA3503)(PBS only)	ICC/IF, FC, ELISA	Human

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Diseases	Alias
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Transitional Cell Carcinoma	Transitional Cell Neoplasm Carcinoma, Transitional Cell Transitional Carcinoma Transitional Cell Tumor Urothelial Cell Carcinoma Carcinoma Transitional Cell Transitional Cell Carcinoma Of Bladder
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Fibrosarcoma	Neoplasms, Fibrous Tissue Fibrocytic Tumor Fibrosarcoma Of Soft Tissue Fibrous Tissue Neoplasm
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Cervical Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of The Cervix Uteri
Schindler Disease, Type I	Schindler Disease Type 1 Alpha-N-Acetylgalactosaminidase Deficiency Type 1 Schindler Disease Type 3 Alpha-N-Acetylgalactosaminidase Deficiency Type 3 Naga Deficiency Type 3 Neuroaxonal Dystrophy, Schindler Type Naga Deficiency Type 1 Alpha-N-Acetylgalactosaminidase Deficiency, Type I Naga Deficiency, Type I Schindler Disease, Type Iii N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 Naga Deficiency, Type 1 Schindler Disease Type I Schindler Disease SCHIND Schindler Disease, Type 3 Schindler Disease, Type 1
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Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
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Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-126741	Azadirachtin		99.06%	Phase 2

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-Y0598	trans-Chalcone		99.25%	Unkown
HY-18633	MDK83190	Activator	98.61%	Unkown
HY-125018	QM31	Inhibitor	95.00%	Unkown
HY-103349	PETCM		99.68%	Unkown
HY-119979	Cardanol monoene	Inducer	99.51%	Unkown
HY-116692	Apoptosis inducer 34		99.9%	Unkown
HY-136893	SP-6-27		/	Unkown
HY-RS00801	APAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-171447	LPT99	Inhibitor	/	Unkown
HY-RS17757	Apaf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24224	Apaf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	APAF1	RGD	RGD:620575
Felis catus	APAF1	VGNC	VGNC:67733
Macaca mulatta	APAF1	VGNC	VGNC:69975
Bos taurus	APAF1	VGNC	VGNC:25999
Canis familiaris	APAF1	VGNC	VGNC:54194
Mus musculus	APAF1	MGD	MGI:1306796
Others	APAF1	NCBI