CASP9 (caspase 9)

Gene

• Entrez ID: 842
• Gene name: Caspase 9
• Gene symbol: CASP9
• Synonyms: APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56
• Chromosome: 1
• Chromosome location: 1p36.21
• Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT005294	hsa-let-7a-5p	Western blot	18758960
MIRT016408	hsa-miR-193b-3p	Microarray	20304954
MIRT025767	hsa-miR-7-5p	Microarray	19073608
MIRT029244	hsa-miR-26b-5p	Microarray	19088304
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT001986	hsa-miR-133a-3p	qRT-PCR	27425441
MIRT734897	hsa-miR-362-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33459949
MIRT735256	hsa-miR-1271-3p	Microarray, qRT-PCR	32407273
MIRT756201	hsa-miR-107	Immunoprecipitaion (IP)	36816358
MIRT756320	hsa-miR-29b-1-5p	Western blotting	38934067
MIRT864244	hsa-miR-129-3p	CLIP-seq
MIRT864245	hsa-miR-224	CLIP-seq
MIRT864246	hsa-miR-3619-3p	CLIP-seq
MIRT864247	hsa-miR-3690	CLIP-seq
MIRT864248	hsa-miR-4308	CLIP-seq
MIRT864249	hsa-miR-4687-5p	CLIP-seq
MIRT864250	hsa-miR-4731-3p	CLIP-seq
MIRT864251	hsa-miR-4776-5p	CLIP-seq
MIRT864252	hsa-miR-4801	CLIP-seq
MIRT864253	hsa-miR-10a	CLIP-seq
MIRT864254	hsa-miR-10b	CLIP-seq
MIRT864255	hsa-miR-1276	CLIP-seq
MIRT864256	hsa-miR-2278	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT864258	hsa-miR-4468	CLIP-seq
MIRT864259	hsa-miR-4725-5p	CLIP-seq
MIRT864260	hsa-miR-504	CLIP-seq
MIRT2193827	hsa-miR-3120-5p	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT2193828	hsa-miR-4421	CLIP-seq
MIRT2193829	hsa-miR-668	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Activation	20188076
NFKB1	Unknown	20056115
RELA	Unknown	20056115

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	16920334
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	9922454, 10206961, 10376594, 11024045, 11069302, 11084335, 11350957, 11801603, 11821383, 12620238, 15657060, 16189514, 16537496, 16936772, 18022362, 18723680, 19153467, 19255499, 19494828, 19721007, 20462491, 21827945, 21988832, 23516580, 25241761, 25416956, 25502805, 25519916, 2710
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA	17167422
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IBA	21873635
GO:0006915	Process	Apoptotic process	IMP	15069058
GO:0006915	Process	Apoptotic process	TAS	8663294
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	15657060
GO:0008047	Function	Enzyme activator activity	TAS	9390557
GO:0008233	Function	Peptidase activity	IDA	19740745, 20663920
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA	21873635
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	15657060
GO:0008635	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS
GO:0017124	Function	SH3 domain binding	IDA	15657060
GO:0019901	Function	Protein kinase binding	IDA	15657060
GO:0030220	Process	Platelet formation	TAS	18309324
GO:0032991	Component	Protein-containing complex	IDA	11821383
GO:0034644	Process	Cellular response to UV	IDA	15657060
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	15657060
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11821383
GO:0043293	Component	Apoptosome	IDA	21827945
GO:0097153	Function	Cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	TAS
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0097199	Function	Cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IBA	21873635
GO:0097199	Function	Cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	21980415
GO:0097200	Function	Cysteine-type endopeptidase activity involved in execution phase of apoptosis	IBA	21873635
GO:2001020	Process	Regulation of response to DNA damage stimulus	IMP	15657060

Other IDs

• MIM: 602234
• HGNC: 1511
• e!Ensembl: ENSG00000132906

Protein

• UniProt ID: P55211
• Protein name: Caspase-9 (CASP-9) (EC 3.4.22.62) (Apoptotic protease Mch-6) (Apoptotic protease-activating factor 3) (APAF-3) (ICE-like apoptotic protease 6) (ICE-LAP6) [Cleaved into: Caspase-9 subunit p35; Caspase-9 subunit p10]
• Protein function: Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates effector caspases caspase-3 (CASP3) or caspase-7 (CASP7). Pro
• PDB: 1JXQ, 1NW9, 2AR9, 3D9T, 3V3K, 3YGS, 4RHW, 5JUY, 5WVC, 5WVE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	6 → 92	Caspase recruitment domain	Domain
  PF00656	Peptidase_C14	161 → 413		Domain

• Sequence:

  MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQRAGSGSRRDQARQLII
  DLETRGSQALPLFISCLEDTGQDMLASFLRTNRQAAKLSKPTLENLTPVVLRPEIRKPEV
  LRPETPRPVDIGSGGFGDVGALESLRGNADLAYILSMEPCGHCLIINNVNFCRESGLRTR
  TGSNIDCEKLRRRFSSLHFMVEVKGDLTAKKMVLALLELAQQDHGALDCCVVVILSHGCQ
  ASHLQFPGAVYGTDGCPVSVEKIVNIFNGTSCPSLGGKPKLFFIQACGGEQKDHGFEVAS
  TSPEDESPGSNPEPDATPFQEGLRTFDQLDAISSLPTPSDIFVSYSTFPGFVSWRDPKSG
  SWYVETLDDIFEQWAHSEDLQSLLLRVANAVSVKGIYKQMPGCFNFLRKKLFFKTS

• Sequence length: 416

Pathways

KEGG:

Platinum drug resistance
p53 signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Apoptosis - multiple species
VEGF signaling pathway
Thyroid hormone signaling pathway
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Legionellosis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Prostate cancer
Small cell lung cancer
Non-small cell lung cancer
Viral myocarditis
Lipid and atherosclerosis

Reactome:

Formation of apoptosome
Activation of caspases through apoptosome-mediated cleavage
NOD1/2 Signaling Pathway
AKT phosphorylates targets in the cytosol
Caspase activation via Dependence Receptors in the absence of ligand
Constitutive Signaling by AKT1 E17K in Cancer
Regulation of the apoptosome activity

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17199135
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091	18497877

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral ischemia	Brain Ischemia, Brain Stem Ischemia, Transient, Transient Cerebral Ischemia		11756504, 11333366
Nervous system diseases	Peripheral Nervous System Diseases		20864405
Nervous system disorder	nervous system disorder		11150333
Prostatic neoplasms	Prostatic Neoplasms		17199135
Retinal pigment epithelial detachment	Retinal Pigment Epithelial Detachment		18497877
Transient ischemic attack	Transient Ischemic Attack, Posterior Circulation Transient Ischemic Attack, Carotid Circulation Transient Ischemic Attack, Transient Ischemic Attack, Vertebrobasilar Circulation, Crescendo Transient Ischemic Attacks, Transient Ischemic Attack, Anterior Circulation		11333366