CASP9: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

CASP9

Aliases

APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56

Entrez Gene ID

842

Gene Name

Caspase 9

Chromosomal Location

1p36.21

HGNC ID

HGNC:1511

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 at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

RefSeq DNA

NG_029188.1

RefSeq mRNA

NM_032996.3, NR_102732.1, NR_102733.1, NM_001229.5, NM_001278054.1

e!Ensembl

Gene	ENSG00000132906
Transcript	ENST00000546424, ENST00000333868, ENST00000348549, ENST00000400777, ENST00000424908, ENST00000375890, ENST00000474305, ENST00000447522, ENST00000440484, ENST00000469637
Protein	ENSP00000449584, ENSP00000330237, ENSP00000255256, ENSP00000383588, ENSP00000408691, ENSP00000365051, ENSP00000449216, ENSP00000396540, ENSP00000411304, ENSP00000480785

Gene Ontology (GO)

Show/Hide all(23 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006915	Biological process	Apoptotic process	IBA	21873635
GO:0006915	Biological process	Apoptotic process	IMP	15069058
GO:0006915	Biological process	Apoptotic process	TAS	8663294
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IDA	15657060
GO:0008630	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA	21873635
GO:0008630	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	15657060
GO:0030220	Biological process	Platelet formation	TAS	18309324
GO:0034644	Biological process	Cellular response to UV	IDA	15657060
GO:0042770	Biological process	Signal transduction in response to DNA damage	IDA	15657060
GO:0043065	Biological process	Positive regulation of apoptotic process	IMP	11821383
GO:2001020	Biological process	Regulation of response to DNA damage stimulus	IMP	15657060
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005829	Cellular component	Cytosol	IDA	17167422
GO:0032991	Cellular component	Protein-containing complex	IDA	11821383
GO:0043293	Cellular component	Apoptosome	IDA	21827945
GO:0004197	Molecular function	Cysteine-type endopeptidase activity	IDA	16920334
GO:0005515	Molecular 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, 25241761, 25416956, 27107012, 29997244
GO:0008047	Molecular function	Enzyme activator activity	TAS	9390557
GO:0008233	Molecular function	Peptidase activity	IDA	19740745, 20663920
GO:0017124	Molecular function	SH3 domain binding	IDA	15657060
GO:0019901	Molecular function	Protein kinase binding	IDA	15657060
GO:0097153	Molecular function	Cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0097199	Molecular function	Cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	21980415

Protein Information

Protein Name

Caspase-9, ICE-like apoptotic protease 6, apoptotic protease MCH-6, apoptotic protease activating factor 3, caspase 9, apoptosis-related cysteine peptidase, protein phosphatase 1, regulatory subunit 56

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 caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP).; Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9

Refseq Proteins

NP_127463.2, , NP_001220.2, NP_001264983.1

UniProt

P55211

PDB

3YGS, 4RHW, 5JUY, 5WVC, 5WVE, 3D9T, 1JXQ, 1NW9, 2AR9, 3V3K