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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASP1 Gene

protein-coding GIFtS: 72
GCID: GC11M104898

caspase 1, apoptosis-related cysteine peptidase

(Previous names: caspase 1, apoptosis-related cysteine protease (interleukin...)
(Previous symbol: IL1BC)

Explore 121 diseases affiliated with
CASP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Caspase 1, Apoptosis-Related Cysteine Peptidase¹ ²		Caspase-1¹
IL1BC¹ ² ³ ⁵		Interleukin 1, Beta, Convertase²
ICE¹ ² ³		Interleukin 1-B Converting Enzyme²
Caspase 1, Apoptosis-Related Cysteine Peptidase (Interleukin 1, Beta, Convertase)¹ ²		CASP-1³
IL-1 Beta-Converting Enzyme² ³		IL-1BC³
EC 3.4.22.36³ ⁸		IL1BCE³
Caspase 1, Apoptosis-Related Cysteine Protease (Interleukin 1, Beta, Convertase)¹		Interleukin-1 Beta Convertase³
IL1B-Convertase¹		Interleukin-1 Beta-Converting Enzyme³
P45²		P45²
CASP1 Nirs Variant 1²		EC 3.4.22⁸

External Ids:	HGNC: 1499¹	Entrez Gene: 834²	Ensembl: ENSG00000137752⁷	OMIM: 147678⁵	UniProtKB: P29466³

Export aliases for CASP1 gene to outside databases

Previous GC identifers: GC11M107089 GC11M106252 GC11M104930 GC11M104433 GC11M104401 GC11M104897

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASP1:

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)

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466

Function: Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is

involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol

regulatory element binding proteins (SREBPs). Can also promote apoptosis

Gene Wiki entry for CASP1 (Caspase 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASP1 gene promoter:
C/EBPbeta ISGF-3 AP-1 ATF-2 IRF-1 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASP1 promoter sequence

Search SABiosciences Chromatin IP Primers for CASP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q23

CASP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M104898: view genomic region (about GC identifiers)

Start:	104,896,170 bp from pter	End:	104,972,158 bp from pter
Size:	75,989 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466 (See protein sequence)

Recommended Name: Caspase-1 precursor

Size: 404 amino acids; 45159 Da

Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa (p20) and

a 10 kDa (p10) subunit. The p20 subunit can also form a heterodimer with the epsilon isoform which then has an

inhibitory effect. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and

NALP2 and whose function would be the activation of proinflammatory caspases. Interacts with CARD17/INCA and CARD18

Subcellular location: Cytoplasm

Sequence caution: Sequence=AAT72297.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAT72297.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

6/29 PDB 3D structures from and Proteopedia for CASP1 (see all 29):

1BMQ (3D)

1IBC (3D)

1ICE (3D)

1RWK (3D)

1RWM (3D)

1RWN (3D)

Secondary accessions: B5MDZ1 Q53EY6 Q6DMQ1 Q6GSS3 Q6PI75 Q9UCN3

Alternative splicing: 5 isoforms: P29466-1 P29466-2 P29466-3 P29466-4 P29466-5 (Apoptosis inactive)

Explore the universe of human proteins at neXtProt for CASP1: NX_P29466

Post-translational modifications:

The two subunits are derived from the precursor sequence by an autocatalytic mechanism¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P29466

4/7 DME Specific Peptides for CASP1 (P29466) (see all 7)

NGLLDEL

IIQACRG

SDSTFLV

DKPKVII

CASP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_001214.1 NP_001244047.1 NP_001244048.1 NP_150634.1 NP_150635.1 NP_150636.1 NP_150637.1

ENSEMBL proteins:

ENSP00000435536 ENSP00000434250 ENSP00000432340 ENSP00000433138 ENSP00000410076

ENSP00000434779 ENSP00000434303 ENSP00000436875 ENSP00000431947 ENSP00000434259

ENSP00000408446 ENSP00000403260 ENSP00000344132 ENSP00000376844

Reactome Protein details: P29466
Human Recombinant Protein Products:

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	Novus Biologicals CASP1 Proteins Novus Biologicals CASP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CASP1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005622	intracellular	--	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--

CASP1 for ontologies About GeneDecksing

CASP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP1
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	Cell Signaling Technology (CST) Antibodies for CASP1
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	Novus Biologicals CASP1 Antibodies
	Abcam antibodies for CASP1
	Uscn Antibodies for CASP1
	ThermoFisher Antibodies for CASP1

Assay Products for CASP1:

	EMD Millipore Kits and Assays for the Analysis of CASP1
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for CASP1 (Caspase-1) (see all)
	GenScript CASP1-Activity-based Protease Assay for Compound Screening
	Enzo Life Sciences assays for CASP1
	Uscn ELISAs and CLIAs for CASP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CASP1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR001309 Pept_C14_ICE_p20

IPR011029 DEATH-like_dom

IPR017350 Caspase_IL-1_beta

IPR002138 Pept_C14_p10

IPR015917 Pept_C14_p45_core

Graphical View of Domain Structure for InterPro Entry P29466

ProtoNet protein and cluster: P29466

4 Blocks protein families:

IPB000873 AMP-binding signature

IPB001309 Caspase-1

IPB001315 CARD interaction domain

IPB002398 Interleukin-1B converting enzyme signature

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466

Similarity: Belongs to the peptidase C14A family

Similarity: Contains 1 CARD domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466

Function: Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is

involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol

regulatory element binding proteins (SREBPs). Can also promote apoptosis

Catalytic activity: Strict requirement for an Asp residue at position P1 and has a preferred cleavage sequence of

Tyr-Val-Ala-Asp- -

Enzyme regulation: Specifically inhibited by the cowpox virus Crma protein

Genatlas biochemistry entry for CASP1:

caspase 1,cysteine containing aspartate-specific protease,including isoforms delta,gamma,epsilon,specific for IL1B and

IL18,involved in procytokine activation,stored in the mitochondrial intermembrane space and released into cytosol

after appropriate apoptotic stimuli,promoting apoptosis

Enzyme Numbers (IUBMB): EC 3.4.22.36¹ ² EC 3.4.22²

miRNA Products:		OriGene 3'-UTR Clone (see all 5): CASP1 Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASP1 (see all 7) OriGene shRNA RFP: CASP1 OriGene siRNA: CASP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CASP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 5): CASP1 (NM_033292)
		Sino Biological Human cDNA Clone for CASP1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CASP1
		Search LifeMap BioReagents cell lines for CASP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	TAS	--
GO:0005515	protein binding	IPI	18329368
GO:0008233	peptidase activity	--	--
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	TAS	10799503

CASP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CASP1:

Elongated cells with protrusio

Animal Models:
Mouse knock-outs for CASP1: Casp1/Casp4^Casp1/tm1Bhk Casp1^tm1Flv Casp1^tm1Sesh
12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Casp1):

cardiovascular system	cellular	digestive/alimentary	hematopoietic system	homeostasis/metabolism
immune system	integument	mortality/aging	nervous system	renal/urinary system
reproductive system	tumorigenesis

CASP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/36 super-pathways (see all 36) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling Regulation of RAC1 activity

	G-protein signaling Regulation of RAC1 activity	1.00			G-protein signaling Regulation of CDC42 activity	0.25
	G-protein signaling_Regulation of RAC1 activity	0.88			G-protein signaling_Regulation of CDC42 activity	0.25

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways

	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	1.00			NOD-like receptor signaling pathway	0.36
	NOD1/2 Signaling Pathway	0.69			NOD pathway	0.23

Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway	1.00			Parkin-Ubiquitin Proteasomal System pathway	0.93
	Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway	0.93

TWEAK Pathway

	GITR Pathway	0.46			Fas Signaling	0.29
	TNF Signaling	0.40

Inflammasomes

Inflammasomes

1.00

The NLRP3 inflammasome

0.71

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for CASP1

	G-protein signaling Regulation of CDC42 activity
	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Selected targets of p53
	G-protein signaling Regulation of RAC1 activity

1 R&D Systems Pathway for CASP1

Inflammasome Activation Pathways

5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP1 (see all 16)

	Caspase Cascade
	S-1P Stimulated Signaling
	14-3-3 Induced Apoptosis
	DHA Signaling
	Endothelin-1 Signaling Pathway

1 Cell Signaling Technology (CST) Pathway for CASP1

Apoptosis and Autophagy

3 GeneGo (Thomson Reuters) Pathways for CASP1

	G-protein signaling Regulation of RAC1 activity
	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	G-protein signaling Regulation of CDC42 activity

5/9 BioSystems Pathways for CASP1 (see all 9)

	NOD pathway
	Apoptosis
	MAPK signaling pathway
	Parkin-Ubiquitin Proteasomal System pathway
	IL1-mediated signaling events

5/11 Reactome Pathways for CASP1 (see all 11)

	Cytokine Signaling in Immune system
	Inflammasomes
	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
	Interleukin-1 processing
	The AIM2 inflammasome

5 Kegg Pathways (Kegg details for CASP1):

	NOD-like receptor signaling pathway
	Cytosolic DNA-sensing pathway
	Amyotrophic lateral sclerosis (ALS)
	Pertussis
	Influenza A

CASP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CASP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/76 Interacting proteins for CASP1 (P29466^{1, 2, 3} ENSP00000410076⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RIPK2	O43353²^,³, ENSP00000220751⁴	MINT-14090 I2D: score=5 STRING: ENSP00000220751
IL1A	P01583¹^,³, ENSP00000263339⁴	EBI-516667,EBI-1749782 I2D: score=2 STRING: ENSP00000263339
NLRC4	Q9NPP4¹^,²^,³, ENSP00000354159⁴	EBI-516667,EBI-1222527 MINT-16578 MINT-16579 I2D: score=5 STRING: ENSP00000354159
FGF2	P09038¹^,³, ENSP00000264498⁴	EBI-516667,EBI-977447 I2D: score=2 STRING: ENSP00000264498
IL18	Q14116³, ENSP00000280357⁴	I2D: score=4 STRING: ENSP00000280357

About this table

Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0001774	microglial cell activation	--	--
GO:0006508	proteolysis	IDA	12888622
GO:0006915	apoptotic process	TAS	7876192
GO:0006917	induction of apoptosis	IEA	--

CASP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CASP1 for compounds About GeneDecksing

EMD Millipore small molecules for CASP1:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for CASP1

Browse Tocris compounds for CASP1

4 DrugBank Compounds for CASP1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Minocycline	--	10118-90-8	target	negative modulator	17192486 11383749 18977395 10888929
1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE	--	--	target	--	10592235
3-[2-(2-BENZYLOXYCARBONYLAMINO-3-METHYL-BUTYRYLAMINO)-PROPIONYLAMINO]-4-OXO-PENTANOIC ACID	--	--	target	--	10592235
3-{6-[(8-HYDROXY-QUINOLINE-2-CARBONYL)-AMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-4-OXO-BUTYRI ACID	--	--	target	--	10592235

10/124 Novoseek chemical compound relationships for CASP1 gene (see all 124) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acetyl-tyr-val-ala-asp-cho	78	3	9770325 (1), 10496353 (1), 10229667 (1)
pralnacasan	75.7	5	14610233 (2), 11772244 (1), 11966457 (1), 12789619 (1)
cysteine	74.3	141	8761296 (3), 9015748 (2), 9070923 (2), 20170165 (2) (see all 95)
z-vad-fmk	73.1	6	8656677 (1), 9357850 (1), 8917679 (1), 9271410 (1)
anakinra	66.6	4	18474815 (2), 18311798 (2)
tetrapeptide	66.1	15	8972182 (1), 10194182 (1), 15389593 (1), 8620480 (1) (see all 13)
ag-126	54.3	1	11056157 (1)
flagellin	49.5	14	16648852 (4), 16984919 (2), 17696608 (2), 18081695 (1) (see all 7)
evodiamine	48.9	3	12567888 (1), 12708481 (1), 14600398 (1)
tlck	45.2	1	8554575 (1)

Search CenterWatch for drugs/clinical trials and news about CASP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASP1 gene (7 alternative transcripts):

NM_001223.4 NM_001257118.1 NM_001257119.1 NM_033292.3 NM_033293.3 NM_033294.3 NM_033295.3

Unigene Cluster for CASP1:

Caspase 1, apoptosis-related cysteine peptidase

Hs.2490 [show with all ESTs]

Unigene Representative Sequence: NM_001257118

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000532439 ENST00000527625 ENST00000526568(uc001pig.3 uc021qpr.1 uc021qps.1 uc021qpu.1 uc021qpt.1 uc010rvf.2 uc010rvh.2)

ENST00000527979 ENST00000533400(uc001pim.4 uc009yxi.3) ENST00000436863(uc021qpp.1 uc021qpq.1 uc010rvj.2 uc010rve.2 uc010rvg.2)

ENST00000525825(uc021qpv.1) ENST00000531166(uc021qpx.1) ENST00000534497(uc021qpw.1)

ENST00000529871(uc009yxj.3) ENST00000528974(uc010rvk.2) ENST00000526511(uc010rvl.2)

ENST00000528424 ENST00000532520 ENST00000415981(uc010rvi.2) ENST00000446369

ENST00000353247 ENST00000393136

miRNA Products:		OriGene 3'-UTR Clone (see all 5): CASP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASP1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CASP1
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASP1 (see all 7) OriGene shRNA RFP: CASP1 OriGene siRNA: CASP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASP1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASP1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): CASP1 (NM_033292)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP1

Additional cDNA sequence:

AB102878.1 AK223503.1 AK290114.1 AK290122.1 AK296646.1 AK301037.1 AK310059.1 AK313516.1

AY660536.1 BC041689.2 BC062327.1 M87507.1 U13697.1 U13698.1 U13699.1 U13700.1

X65019.1

14 DOTS entries:

DT.95099765 DT.120721408 DT.100741603 DT.97842115 DT.102842639 DT.413140 DT.75156932 DT.91816608

DT.99959820 DT.318194 DT.95136720 DT.101974184 DT.102842638 DT.97842116

24/135 AceView cDNA sequences (see all 135):

BC070196 BC062327 CR592117 BQ673033 BM552543 AW239393 AI493806 BI818813

BM920134 BC041689 AU098419 X65019 U13697 AK125640 BX505922 BI819700

AU076811 AU134631 AI081712 BG390044 BG215796 BM457265 BG766489 NM_033295

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for CASP1 (see all 21) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	·	12d	^	13a	·	13b	^	14	^	15a	·	15b	·	15c	^
SP1:			-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:											-
SP3:
SP4:
SP5:

ExUns:	16a	·	16b	^	17a	·	17b	^	18a	·	18b	^	19	^	20a	·	20b	·	20c	^	21a	·	21b	·	21c	·	21d	·	21e	^	22a	·	22b	·	22c	^	23	^	24a	·	24b	·	24c	^	25a	·	25b	^	26a	·	26b
SP1:	-		-		-														-
SP2:
SP3:					-														-
SP4:					-		-												-
SP5:																																							-				-

ECgene alternative splicing isoforms for CASP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CASP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAATACCA

About this image

CASP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

CD31, CD144 positive cells (Two-step protocol fo...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CASP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASP1

SOURCE GeneReport for Unigene cluster: Hs.2490

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466

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

SABiosciences Expression via Pathway-Focused PCR Arrays including CASP1 (see all 15):

Parkinson's Disease in human mouse rat

Antiviral Response in human mouse rat

Inflammasomes in human mouse rat

Apoptosis in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASP1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CASP1 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CASP1¹	caspase 1, apoptosis-related cysteine peptidase	55.06(n) 45.03(a)		395764 XM_003642384.1 XP_003642432.1
lizard (Anolis carolinensis)	Reptilia	--	--	47(a)	1 → many	GL344618.1(3490-9499)
African clawed frog (Xenopus laevis)	Amphibia	casp1-A²	caspase 1b, apoptosis-related cysteine protease (interleukin more	76.12(n)		D89785.1
zebrafish (Danio rerio)	Actinopterygii	caspa⁶ caspb⁶ (see all 5)	caspase b (see all 5)	30(a) 27(a) (see all 5)	many ↔ many many ↔ many (see all 5)	16(44763011-44774004) 1(58737275-58751108)
fruit fly (Drosophila melanogaster)	Insecta	Dredd⁶ Nc⁶	Nedd2-like caspase	12(a) 12(a)	1 ↔ many possible ortholog	X(527553-529760) 3L(9961579-9964102)
worm (Caenorhabditis elegans)	Secernentea	csp-2⁶ ced-3⁶ (see all 4)	CaSPase family member (csp-2) Cell death protein 3 Cell death protein 3 subunit ... (see all 4)	8(a) 17(a) (see all 4)	possible ortholog possible ortholog (see all 4)	IV(6307728-6315708) IV(13199206-13206272)

ENSEMBL Gene Tree for CASP1 (if available)
TreeFam Gene Tree for CASP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CASP1 gene

CASP16² CASP6² CASP8² CASP12² CASP9² CASP7² CASP3² CASP2²

CASP14² CASP5² CASP10² CASP4²

9 SIMAP similar genes for CASP1 using alignment to 5 protein entries: CASP1_HUMAN (see all proteins):

CARD17 CARD16 DKFZp586A181 LOC643733 mih1/Tx CARD18

CASP12 CASP4 CASP5

CASP1 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for CASP1
PGOHUM00000257861 PGOHUM00000257862 PGOHUM00000257863 PGOHUM00000242460

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs507509^1,2	C,F,H,	--	100826864(-)	`GACAGC/TGACAG`	7	--	ds500¹ int¹		26		NS EA NA CSA WA	2520
rs507438^1,2	C,F,H,	--	100826889(-)	`GAGACG/AGGGGA`	7	--	ds500¹ int¹		11		NS EA NA CSA WA	656
rs504054^1,2	C,F,H,	--	100827035(+)	`TAATAA/GCATTG`	7	--	ds500¹ int¹		11		NS EA NA CSA WA	626
rs7112592^1,2	C,F,H,	--	100827102(+)	`GTTCTG/TGGAAA`	7	--	ds500¹ int¹		10		NS EA NA WA	1310
rs56046641^1,2	C,F,	--	100827524(+)	`CAATAT/GCAGAT`	7	--	int¹ ut3¹		6		NA CSA WA	246
rs74771483^1,2	F,	--	100827784(+)	`GAATAT/ACATGT`	7	--	int¹ ut3¹		1		WA	118
rs534811^1,2	C,F,A,H,	--	100827868(-)	`AACTCT/CAGGTT`	7	--	int¹ ut3¹		23		NA NS EA CSA WA	2116
rs79180143^1,2	C,F,	--	100827881(+)	`TGACTC/AAAATG`	7	--	int¹ ut3¹		8		WA NA CSA	249
rs17103544^1,2	C,F,H,	--	100828243(+)	`AATGAC/GCCTCC`	7	--	int¹		8		NA NS EA WA	678
rs56039250^1,2	C,	--	100828708(+)	`TCTTG-/CCTGAA`	7	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CASP1 (104896170 - 104972158 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 18 variations for CASP1
15/18 CNVs (see all 18): 48685 10378 48686 6899 31847 37661 75801 86008 75802 8695 66055 37906 48683 48684 9671
Human Gene Mutation Database (HGMD): CASP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASP1

DNA2.0 Custom Variant and Variant Library Synthesis for CASP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CASP1 for disorders           About GeneDecksing

OMIM gene information: 147678    OMIM disorders: --

20/121 diseases for CASP1 (see all 121):    About MalaCards

synovitis muckle-wells syndrome chronic infantile neurological cutaneous articular syndrome huntington's disease

spinal cord injury familial cold autoinflammatory syndrome septic shock familial mediterranean fever

amyotrophic lateral sclerosis amyotrophic lateral sclerosis (als) wells syndrome cinca syndrome

lateral sclerosis traumatic brain injury non-hodgkin lymphoma transient cerebral ischemia

paratyphoid fever inflammatory bowel disease myocardial infarction gastrointestinal stromal tumor

10/94 Novoseek disease relationships for CASP1 gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
muckle-wells syndrome	79	1	16081838 (1)
cold hypersensitivity	69.5	1	16081838 (1)
inflammation	59.4	50	18828051 (3), 10931347 (3), 7780029 (1), 11736994 (1) (see all 41)
cowpox	59	8	8034697 (2), 16465268 (1), 8972182 (1), 9829999 (1) (see all 5)
familial mediterranean fever	57.8	4	17964261 (1), 16785446 (1), 19784369 (1), 18577712 (1)
necrosis	54.1	28	17374996 (3), 12934070 (2), 19587006 (2), 19596994 (1) (see all 20)
cinca syndrome	52.6	2	15476236 (1), 16081838 (1)
neurodegeneration	36.6	5	10374748 (1), 10203693 (1), 10666665 (1), 9118318 (1) (see all 5)
salmonella infections	36.4	3	15528373 (1), 20160900 (1), 18667412 (1)
tumors	34.6	41	11043837 (2), 9377572 (2), 9661876 (2), 12794166 (1) (see all 28)

Human Genome Epidemiology (HuGE) Navigator: CASP1 (27 documents)
Tumor Gene Database (TGDB): CASP1

Export disorders for CASP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CASP1 gene, integrated from 9 sources (see all 998):
(articles sorted by number of sources associating them with CASP1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning of the interleukin-1 beta converting enzyme. (PubMed id 1373520)^{1, 2, 3} Cerretti D.P.... Black R.A. (1992)
Cloning and expression of four novel isoforms of human interleukin-1 beta converting enzyme with different apoptotic activities. (PubMed id 7876192)^{1, 2, 9} Alnemri E.S.... Litwack G. (1995)
Crystal structures of a ligand-free and malonate-bound human caspase- 1: implications for the mechanism of substrate binding. (PubMed id 15296730)^{1, 2, 9} Romanowski M.J.... McDowell R.S. (2004)
NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PubMed id 15030775)^{1, 2, 9} Agostini L....Tschopp J. (2004)
A combinatorial approach for determining protease specificities: application to interleukin-1beta converting enzyme (ICE). (PubMed id 9190289)^{1, 2, 9} Rano T.A.... Thornberry N.A. (1997)
Crystal structure of the cysteine protease interleukin-1 beta- converting enzyme: a (p20/p10)2 homodimer. (PubMed id 8044845)^{1, 2, 9} Walker N.P.C....Wong W.W. (1994)
A novel heterodimeric cysteine protease is required for interleukin-1 beta processing in monocytes. (PubMed id 1574116)^{1, 2, 9} Thornberry N.A.... Tocci M.J. (1992)
Caspase-1 zeta, a new splice variant of caspase-1 gene. (PubMed id 15498465)^{1, 2} Feng Q.... Auersperg N. (2004)
INCA, a novel human caspase recruitment domain protein that inhibits interleukin-1beta generation. (PubMed id 15383541)^{1, 2} Lamkanfi M.... Vandenabeele P. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 834	HGNC: 1499	AceView: CASP1andCOP	Ensembl:ENSG00000137752	euGenes: HUgn834
ECgene: CASP1	Kegg: 834	H-InvDB: CASP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CASP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASP1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CASP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CASP1 gene:
Search GeneIP for patents involving CASP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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CASP1 Gene

caspase 1, apoptosis-related cysteine peptidase

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CASP1 (Gene Symbol)
Caspase 1, Apoptosis-Related Cysteine Peptidase
IL1BC
ICE
Caspase 1, Apoptosis-Related Cysteine Peptidase (Interleukin 1, Beta, Convertase)
IL-1 Beta-Converting Enzyme
EC 3.4.22.36
Caspase 1, Apoptosis-Related Cysteine Protease (Interleukin 1, Beta, Convertase)
IL1B-Convertase
P45
CASP1 Nirs Variant 1
Caspase-1
Interleukin 1, Beta, Convertase
Interleukin 1-B Converting Enzyme
CASP-1
IL-1BC
IL1BCE
Interleukin-1 Beta Convertase
Interleukin-1 Beta-Converting Enzyme
P45
EC 3.4.22

CINCA SYNDROME
Down Syndrome
Infertility
Microsatellite Instability
Genetic Susceptibility
sepsis
Herpes Simplex
Anthrax
Lymphoma T-Cell
Colitis Ulcerative
COLON CARCINOMA
LUNG CARCINOMA
Systemic Disease
Ischemia
Skin Diseases
Liver diseases
Purpura Thrombotic Thrombocytopenic
Breast Cancer
NSCLC
primary tumor
Adenocarcinoma
cell damage
Cancer
Lymphoma
Urticaria
GASTRIC CARCINOMA
Ovarian Cancer
Pancreatitis
Shock
acute pancreatitis
Multiple Sclerosis
Cowpox
Inflammation
Insulinoma
Monocytic leukemia
MUCKLE-WELLS SYNDROME
Psoriasis
Rheumatoid Arthritis
Chlamydial infection
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virus infection
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ACUTE LEUKEMIA
Leukemia
Alzheimers Disease
COLD HYPERSENSITIVITY
Osteosarcoma
neurodegeneration
Diabetic Retinopathy
HEPATOCELLULAR CARCINOMA
Amyotrophic Lateral Sclerosis
Pancreatic Cancer
Cancer Lung
small cell lung cancer
chronic pancreatitis
Inflammatory Bowel Diseases
Myocardial Infarction
HEART FAILURE
Influenza
HIV Infections
benign prostatic hyperplasia
OVARIAN CARCINOMA
solid tumor
Carcinoma Squamous Cell
SKIN LESION
STROKE
PANCREATIC CARCINOMA
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Myositis
Pancreatic Diseases
Sclerosis Systemic
Myelodysplastic Syndromes
LEUKAEMIA LYMPHOCYTIC
Arthritis

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CASP1 Gene

caspase 1, apoptosis-related cysteine peptidase

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