Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CASP1
Previous Symbol	IL1BC
Symbol Alias	ICE
Approved Name	caspase 1, apoptosis-related cysteine peptidase
Previous Name	caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase), "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"
Name Alias	caspase-1, "interleukin 1, beta, convertase"
Location	11q23
Position	chr11:105025443-105035250, -1
External Links	HGNC: 1499 Entrez Gene: 834 Ensembl: ENSG00000137752 UCSC: uc001pim.5
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cruceanu, C., 2013	Other variant: CASP1_Chr11:104901923	Rare variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 35)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045087	innate immune response	biological process	TAS	49
GO:0004197	cysteine-type endopeptidase activity	molecular function	TAS	3

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006508	proteolysis	biological process	IDA[12888622]	34
GO:0050718	positive regulation of interleukin-1 beta secretion	biological process	IEA	3
GO:0007165	signal transduction	biological process	TAS[1373520]	136
GO:0050717	positive regulation of interleukin-1 alpha secretion	biological process	IEA	2
GO:0097300	programmed necrotic cell death	biological process	IEA	1
GO:0097169	AIM2 inflammasome complex	cellular component	IDA[19158676]	1
GO:0097200	cysteine-type endopeptidase activity involved in execution phase of apoptosis	molecular function	IBA	1
GO:0050727	regulation of inflammatory response	biological process	IBA	4
GO:0071260	cellular response to mechanical stimulus	biological process	IEP[19593445]	12
GO:0032611	interleukin-1 beta production	biological process	IEA	2
GO:0005737	cytoplasm	cellular component	IBA	322
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	TAS[10799503]	7
GO:0004175	endopeptidase activity	molecular function	IDA[24548080]	8
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IEP[12761501]	14
GO:0033198	response to ATP	biological process	IEA	5
GO:1901998	toxin transport	biological process	IEA	4
GO:0005515	protein binding	molecular function	IPI[11374873]	563
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	biological process	TAS	5
GO:0071310	cellular response to organic substance	biological process	IDA[19158679]	5
GO:0005829	cytosol	cellular component	TAS	223
GO:0070269	pyroptosis	biological process	IEA	1
GO:0097194	execution phase of apoptosis	biological process	IBA	3
GO:0005576	extracellular region	cellular component	IEA	97
GO:0060081	membrane hyperpolarization	biological process	IEA	5
GO:0072559	NLRP3 inflammasome complex	cellular component	IDA[15030775]	1
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	molecular function	TAS[10799503]	2
GO:0051882	mitochondrial depolarization	biological process	IEA	2
GO:0001666	response to hypoxia	biological process	IEA	24
GO:0010506	regulation of autophagy	biological process	IEA	2
GO:0072558	NLRP1 inflammasome complex	cellular component	IDA[12191486]	1
GO:0072557	IPAF inflammasome complex	cellular component	IBA; ISS	1
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0006915	apoptotic process	biological process	TAS[7876192]	39

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
hsa01510	Neurodegenerative Diseases	10
hsa05040	Huntington's disease	6
hsa05050	Dentatorubropallidoluysian atrophy (DRPLA)	4

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
caspasePathway	Caspase Cascade in Apoptosis	1
il18Pathway	IL 18 Signaling Pathway	2
d4gdiPathway	D4-GDI Signaling Pathway	1

Gene related interactors from protein-protein interactions data in HPRD (count: 35)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CASP1	NOD1	NO	in vitro;in vivo	10329646 , 12459189
CASP1	PARP1	NO	in vitro;in vivo	7642516
CASP1	PARK2	YES	in vitro	12692130
CASP1	ATXN3	NO	in vitro	9535906
CASP1	TFAP2A	NO	in vitro;in vivo	11438643
CASP1	PLA2G4A	NO	in vitro	9875225
CASP1	RIPK2	NO	in vivo	9705938
CASP1	FGF2	NO	in vivo	18329368
CASP1	BID	NO	in vivo	9727491 , 11085743
CASP1	CAST	NO	in vitro	9705209
CASP1	PSEN2	NO	in vitro;in vivo	9990034 , 9219695 , 10069390
CASP1	IL1B	YES	in vitro;in vivo	7797510 , 1919001
CASP1	MAPT	YES	in vitro;in vivo	12888622
CASP1	CASP14	NO	in vivo	9792675
CASP1	CARD17	NO	in vitro;in vivo	15383541
CASP1	HTT	YES	in vitro	9535906
CASP1	EGFR	YES	in vitro;in vivo	11226410
CASP1	PSEN1	NO	in vitro;in vivo	10069390
CASP1	NLRP1	NO	in vivo	17418785
CASP1	IL1A	NO	in vivo	18329368
CASP1	BCAP31	NO	in vitro;in vivo	9334338
CASP1	AR	NO	in vitro	9535906
CASP1	CDK11B	NO	in vitro	9632733
CASP1	NFE2L2	NO	in vivo;yeast 2-hybrid	10510468
CASP1	IL18	NO	in vitro;in vivo	9334240
CASP1	CARD8	NO	in vitro;in vivo	11821383
CASP1	LMNA	NO	in vitro;in vivo	8978814 , 11953316
CASP1	CARD16	YES	in vivo	11432859 , 11536016
CASP1	ATN1	NO	in vitro	9535906
CASP1	NEDD4	NO	in vitro;in vivo	9593687
CASP1	BCL2L1	NO	in vitro	9435230
CASP1	NLRC4	NO	in vitro;in vivo	11472070 , 11390368 , 17418785
CASP1	PYCARD	NO	in vitro;in vivo	11967258 , 12019269 , 12191486
CASP1	PAK1	NO	in vitro;in vivo	15561713
CASP1	CDC2L2	NO	in vitro;in vivo	9115219

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
CASP1_Chr11:104901923	Nonframeshift del	Chr11:104901923	1 (0/0/1)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
11q22.3-11q23	chr11:102900000-121200000	2 (0/2/0)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q22-q23	chr11:97200000-121200000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:105025443..105035250 View in gBrowse