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Gene id

834

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CASP1 Gene UCSC Ensembl

Aliases

ICE, IL1BC, P45

Gene name

caspase 1

Alternate names

caspase-1, CASP1 nirs variant 1, IL-1 beta-converting enzyme, IL1B-convertase, caspase 1, apoptosis-related cysteine peptidase, interleukin 1, beta, convertase, interleukin 1-B converting enzyme,

Gene location

11q22.3 (105035590: 105025507) Exons: 12 NC_000011.10

Gene summary(Entrez)

This gene encodes a protein which is 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 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

OMIM

147678

Protein Summary

Protein general information

P29466

Name: Caspase 1 (CASP 1) (EC 3.4.22.36) (Interleukin 1 beta convertase) (IL 1BC) (Interleukin 1 beta converting enzyme) (ICE) (IL 1 beta converting enzyme) (p45) [Cleaved into: Caspase 1 subunit p20; Caspase 1 subunit p10]

Length: 404 Mass: 45,159

Tissue specificity: Expressed in larger amounts in spleen and lung. Detected in liver, heart, small intestine, colon, thymus, prostate, skeletal muscle, peripheral blood leukocytes, kidney and testis. No expression in the brain. {ECO

Sequence

MADKVLKEKRKLFIRSMGEGTINGLLDELLQTRVLNKEEMEKVKRENATVMDKTRALIDSVIPKGAQACQICITY
ICEEDSYLAGTLGLSADQTSGNYLNMQDSQGVLSSFPAPQAVQDNPAMPTSSGSEGNVKLCSLEEAQRIWKQKSA
EIYPIMDKSSRTRLALIICNEEFDSIPRRTGAEVDITGMTMLLQNLGYSVDVKKNLTASDMTTELEAFAHRPEHK
TSDSTFLVFMSHGIREGICGKKHSEQVPDILQLNAIFNMLNTKNCPSLKDKPKVIIIQACRGDSPGVVWFKDSVG
VSGNLSLPTTEEFEDDAIKKAHIEKDFIAFCSSTPDNVSWRHPTMGSVFIGRLIEHMQEYACSCDVEEIFRKVRF
SFEQPDGRAQMPTTERVTLTRCFYLFPGH

Structural information

Protein Domains	CARD. (1-91)
Interpro:	IPR001315 IPR029030 IPR033139 IPR016129 IPR011029 IPR002138 IPR001309 IPR015917 IPR017350
Prosite:	PS50209 PS01122 PS01121 PS50207 PS50208
Pfam:	PF00619
CDD:	cd00032
PDB:	1BMQ 1IBC 1ICE 1RWK 1RWM 1RWN 1RWO 1RWP 1RWV 1RWW 1RWX 1SC1 1SC3 1SC4 2FQQ 2H48 2H4W 2H4Y 2H51 2H54 2HBQ 2HBR 2HBY 2HBZ 3D6F 3D6H 3D6M 3E4C 3NS7 5FNA
PDBsum:	1BMQ 1IBC 1ICE 1RWK 1RWM 1RWN 1RWO 1RWP 1RWV 1RWW 1RWX 1SC1 1SC3 1SC4 2FQQ 2H48 2H4W 2H4Y 2H51 2H54 2HBQ 2HBR 2HBY 2HBZ 3D6F 3D6H 3D6M 3E4C 3NS7 5FNA
DIP:	175
MINT:	201196
STRING:	ENSP00000410076;

Other Databases

GeneCards: CASP1; Malacards: CASP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0010506	regulation of autophagy	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0032611	interleukin-1 beta produc tion	IEA	biological_process
GO:0033198	response to ATP	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0050717	positive regulation of in terleukin-1 alpha secreti on	IEA	biological_process
GO:0050718	positive regulation of in terleukin-1 beta secretio n	IEA	biological_process
GO:0051882	mitochondrial depolarizat ion	IEA	biological_process
GO:0060081	membrane hyperpolarizatio n	IEA	biological_process
GO:0070269	pyroptosis	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071310	cellular response to orga nic substance	IDA	biological_process
GO:0072557	IPAF inflammasome complex	ISS	cellular_component
GO:0072558	NLRP1 inflammasome comple x	IDA	cellular_component
GO:0072559	NLRP3 inflammasome comple x	IDA	cellular_component
GO:0097169	AIM2 inflammasome complex	IDA	cellular_component
GO:0097300	programmed necrotic cell death	IEA	biological_process
GO:1901998	toxin transport	IEA	biological_process
GO:0050727	regulation of inflammator y response	IBA	biological_process
GO:0072557	IPAF inflammasome complex	IBA	cellular_component
GO:0097153	cysteine-type endopeptida se activity involved in a poptotic process	IBA	molecular_function
GO:0001666	response to hypoxia	IEA	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IEA	molecular_function
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0009617	response to bacterium	IEA	biological_process
GO:0010506	regulation of autophagy	IEA	biological_process
GO:0016485	protein processing	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0032611	interleukin-1 beta produc tion	IEA	biological_process
GO:0033198	response to ATP	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0050715	positive regulation of cy tokine secretion	IEA	biological_process
GO:0050717	positive regulation of in terleukin-1 alpha secreti on	IEA	biological_process
GO:0050718	positive regulation of in terleukin-1 beta secretio n	IEA	biological_process
GO:0051882	mitochondrial depolarizat ion	IEA	biological_process
GO:0060081	membrane hyperpolarizatio n	IEA	biological_process
GO:0070269	pyroptosis	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071310	cellular response to orga nic substance	IDA	biological_process
GO:0072557	IPAF inflammasome complex	ISS	cellular_component
GO:0072558	NLRP1 inflammasome comple x	IDA	cellular_component
GO:0072559	NLRP3 inflammasome comple x	IDA	cellular_component
GO:0097169	AIM2 inflammasome complex	IDA	cellular_component
GO:0097300	programmed necrotic cell death	IEA	biological_process
GO:1901998	toxin transport	IEA	biological_process
GO:0050727	regulation of inflammator y response	IBA	biological_process
GO:0072557	IPAF inflammasome complex	IBA	cellular_component
GO:0097153	cysteine-type endopeptida se activity involved in a poptotic process	IBA	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071310	cellular response to orga nic substance	IDA	biological_process
GO:0072557	IPAF inflammasome complex	ISS	cellular_component
GO:0072558	NLRP1 inflammasome comple x	IDA	cellular_component
GO:0072559	NLRP3 inflammasome comple x	IDA	cellular_component
GO:0097169	AIM2 inflammasome complex	IDA	cellular_component
GO:0050727	regulation of inflammator y response	IBA	biological_process
GO:0072557	IPAF inflammasome complex	IBA	cellular_component
GO:0097153	cysteine-type endopeptida se activity involved in a poptotic process	IBA	molecular_function

KEGG pathways

hsa05164  Influenza A
hsa04621  NOD-like receptor signaling pathway
hsa04217  Necroptosis
hsa05133  Pertussis
hsa05134  Legionellosis
hsa05132  Salmonella infection
hsa05014  Amyotrophic lateral sclerosis
hsa04623  Cytosolic DNA-sensing pathway

Diseases

Associated diseases	References
Endometriosis	PMID: 17094974
Endometriosis	PMID: 22537218
Male infertility	PMID: 23869807
Myocardial dysfunction	PMID: 16778130
Recurrent miscarriage	PMID: 26474737
Spermatogenetic defects	PMID: 23869807
Endometriosis	INFBASE22537218

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
17094974	Endometrio sis			16 (10 women wi th endometriosi s, 6 without en dometriosis)		DAD-1 p53 Caspase-1	Show abstract
22537218	Endometrio sis			85 women with a nd without endo metriosis		IL-1beta IL-18 and ICE	Show abstract