• Gene id: 834

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 pro
• OMIM: 147678

SNPs

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs3021522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

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
• Sequence:

  MADKVLKEKRKLFIRSMGEGTINGLLDELLQTRVLNKEEMEKVKRENATVMDKTRALIDSVIPKGAQACQICITY
  ICEEDSYLAGTLGLSADQTSGNYLNMQDSQGVLSSFPAPQAVQDNPAMPTSSGSEGNVKLCSLEEAQRIWKQKSA
  EIYPIMDKSSRTRLALIICNEEFDSIPRRTGAEVDITGMTMLLQNLGYSVDVKKNLTASDMTTELEAFAHRPEHK
  TSDSTFLVFMSHGIREGICGKKHSEQVPDILQLNAIFNMLNTKNCPSLKDKPKVIIIQACRGDSPGVVWFKDSVG
  VSGNLSLPTTEEFEDDAIKKAHIEKDFIAFCSSTPDNVSWRHPTMGSVFIGRLIEHMQEYACSCDVEEIFRKVRF
  SFEQPDGRAQMPTTERVTLTRCFYLFPGH

• Structural information:
  • Protein Domains: CARD. (1-91)
  • Interpro: IPR001315  IPR029030  IPR033139  IPR016129  IPR011029   IPR002138  IPR001309  IPR015917  
  • Prosite: PS50209 PS01122 PS01121 PS50207 PS50208
  • 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 5MMV
  • 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 5MMV
  • DIP: 175
  • 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 endopeptidase 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-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	TAS	molecular function
GO:0010506	regulation of autophagy	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032611	interleukin-1 beta production	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:0050717	positive regulation of interleukin-1 alpha secretion	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0051882	mitochondrial depolarization	IEA	biological process
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0070269	pyroptosis	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0071310	cellular response to organic substance	IDA	biological process
GO:0072557	IPAF inflammasome complex	ISS	cellular component
GO:0072558	NLRP1 inflammasome complex	IDA	cellular component
GO:0072559	NLRP3 inflammasome complex	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 inflammatory response	IBA	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase 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-type endopeptidase activity involved in apoptotic process	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 activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	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 lipopolysaccharide	IEA	biological process
GO:0032611	interleukin-1 beta production	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:0050715	positive regulation of cytokine secretion	IEA	biological process
GO:0050717	positive regulation of interleukin-1 alpha secretion	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0051882	mitochondrial depolarization	IEA	biological process
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0070269	pyroptosis	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0071310	cellular response to organic substance	IDA	biological process
GO:0072557	IPAF inflammasome complex	ISS	cellular component
GO:0072558	NLRP1 inflammasome complex	IDA	cellular component
GO:0072559	NLRP3 inflammasome complex	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 inflammatory response	IBA	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase 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 endopeptidase activator activity involved in apoptotic process	TAS	molecular function
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0071310	cellular response to organic substance	IDA	biological process
GO:0072557	IPAF inflammasome complex	ISS	cellular component
GO:0072558	NLRP1 inflammasome complex	IDA	cellular component
GO:0072559	NLRP3 inflammasome complex	IDA	cellular component
GO:0097169	AIM2 inflammasome complex	IDA	cellular component
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa04621	NOD-like receptor signaling pathway
hsa04623	Cytosolic DNA-sensing pathway
hsa04625	C-type lectin receptor signaling pathway
hsa05014	Amyotrophic lateral sclerosis
hsa05130	Pathogenic Escherichia coli infection
hsa05132	Salmonella infection
hsa05135	Yersinia infection
hsa05133	Pertussis
hsa05134	Legionellosis
hsa05164	Influenza A

Diseases

Associated diseases	References
Cancer (gastric)	GAD: 19269008
Cancer (leukemia)	GAD: 19074885
Cancer (lymphoma)	GAD: 19414860
Cancer (Adenocarcinoma)	GAD: 20402676
Atherosclerosis	GAD: 20485444
Cardiac death myocardial dysfunction	GAD: 16778130
Cardiovascular disease	GAD: 16778130
Hodgkin disease	GAD: 19573080
Alzheimer's disease	GAD: 20184726
Endometriosis	INFBASE: 22537218
Endometriosis	INFBASE: 17094974
Recurrent pregnancy loss (RPL)	INFBASE: 26474737
Male factor infertility	MIK: 15120973
Spermatogenesis defects	MIK: 23869807
Spermatogenesis defects	MIK: 23869807
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 15120973
Spermatogenic defects	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23869807	Spermatogenic failure, infertility			21 (16 idiopathic non-obstructive azoospermia, 4 normal spermatogenesis )	Male infertility	IL1-R1 CASP1 SCF
23869807	Spermatogenic defects			20 (16 non-obstructive azoospermia (NOA), 4 normal spermatogenesis)	Male infertility	IL-6 IL-10 TNF family SCF and c-kit
15120973	Male infertility			8 testis biopsies	Male infertility	Vim Rad23A Rad23B Gsr Gstp 1 Mgst1 Ace Casp1 Ctsd Prlr Tmsb4 and Zfp-37 Hsp 1 Osp94
23869807	Spermatogenic defects			20 (16 patients with various types of NOA, 4 with normal spermatogenesis)	Male infertility	IL1-R1 CASP1 SCF IL1-RA
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881