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CASP1 Gene

protein-coding GIFtS: 72

GC11M104401

caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)
(Previous names: caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: IL1BC)

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

Aliases
CASP-1 ^³
EC 3.4.22.36 ^³
ICE ^¹, ², ³
IL-1BC ^³
IL1B-convertase ^²
IL1BC ^², ³, ⁵
IL1BCE ^³
P45 ^²
p45 ^³

Descriptions
CASP1 nirs variant 1 ^²
IL-1 beta-converting enzyme ^³
Interleukin-1 beta convertase ^³
Interleukin-1 beta-converting enzyme ^³
caspase 1 ^²
caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) ^²
caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) ^¹, ²
interleukin 1-B converting enzyme ^²
interleukin 1-beta convertase ^²

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

Search outside databases for aliases for CASP1 gene

Previous GC identifers: GC11M107089 GC11M106252 GC11M104930 GC11M104433

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

EntrezGene 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 of this gene results in five transcript

variants encoding distinct isoforms. [provided by RefSeq]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CASP1 gene

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)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M104401: (about GC identifiers)

Start:	104,401,445 bp from pter
End:	104,411,086 bp from pter
Size:	9,642 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_033899.7

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

PDB structures from and Proteopedia :

1BMQ (3D)

1IBC (3D)

1ICE (3D)

1RWK (3D)

1RWM (3D)

1RWN (3D)

1RWO (3D)

1RWP (3D)

1RWV (3D)

1RWW (3D)

1RWX (3D)

1SC1 (3D)

1SC3 (3D)

1SC4 (3D)

2FQQ (3D)

2H48 (3D)

2H4W (3D)

2H4Y (3D)

2H51 (3D)

2H54 (3D)

2HBQ (3D)

2HBR (3D)

2HBY (3D)

2HBZ (3D)

3E4C (3D)

Secondary accessions: Q53EY6 Q6DMQ1 Q6GSS3 Q6PI75 Q9UCN3

Alternative splicing: 6 isoforms: P29466-1 P29466-2 P29466-3 P29466-4 P29466-5 P29466-6 (Additional isoforms seem to exist)

Post-translational modifications:

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

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (5 alternative transcripts):

NP_001214.1 NP_150634.1 NP_150635.1 NP_150636.1 NP_150637.1

ENSEMBL proteins:

ENSP00000350493 ENSP00000354788 ENSP00000260309 ENSP00000344132 ENSP00000376844

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant CASP1 Protein
	Sigma-Aldrich Proteins for CASP1
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for CASP1
	Recombinant Proteins from Abcam (Caspase 1 alpha, Caspase 1, Caspase 1 beta)
	Human Recombinant Proteins from Abnova (CASP1)

OriGene Purified Recombinant Human Protein: CASP1

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IDA	18029348
GO:0005730	NOT nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--

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Antibodies for CASP1:

	Invitrogen Antibodies for CASP1
	Millipore Mono- and Polyclonal Antibodies for the study of CASP1
	Sigma-Aldrich Antibodies for CASP1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Caspase 1 alpha, Caspase 1, Caspase 1 beta), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CASP1)
	Novus Biologicals Antibodies for CASP1

Assays for CASP1:

	Invitrogen Assays for CASP1
	Millipore Kits and Assays for the Analysis of CASP1
	R&D Systems ELISAs for CASP1 (Caspase-1) (see all)
	Enzo Life Sciences assays for CASP1

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CASP1)
		Millipore RNAi Products for the Analysis of CASP1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CASP1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001223

Applied Biosystems Silencer® siRNAs for CASP1

Sigma-Aldrich siRNA and siRNA Panels for CASP1

Sigma-Aldrich shRNA Panels and shRNA for CASP1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CASP1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001223
Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001223
untagged cDNA clones in CMV expression vector (see all 6): NM_001223

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_033292

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

Enzyme Number (IUBMB): EC 3.4.22.36

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

10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Casp1):

cellular	digestive/alimentary	hematopoietic system	homeostasis/metabolism	immune system
life span-post-weaning/aging	nervous system	renal/urinary system	reproductive system	tumorigenesis

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	TAS	10353249
GO:0005515	protein binding	IPI	12888622 15107016
GO:0008233	peptidase activity	IEA	--
GO:0008656	caspase activator activity	TAS	10799503

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for CASP1 (Your Favorite Gene powered by Ingenuity) (see all 6 )

Lysine Degradation
Amyotrophic Lateral Sclerosis Signaling
TREM1 Signaling
Role of Pattern Recognition Receptors in Recognition of Bacteria and Viruses
Huntington's Disease Signaling

GeneDecks CASP1 for the pathways selected above

About GeneDecksing

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

5/114 Interacting proteins for CASP1 (ENSP00000260309³ P29466^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 114 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FGF2	P09038¹	STRING (score=.951) EBI-516667, EBI-977447
IL1A	P01583¹	STRING (score=.965) EBI-516667, EBI-1749782
NLRP1	Q9C000¹	STRING (score=.999) EBI-516667, EBI-1220518
RIPK2	O43353²	STRING (score=.997) MINT-14090
NLRC4	Q9NPP4¹^,²	STRING (score=.999) EBI-516667, EBI-1222527 MINT-16578 MINT-16579 EBI-516667, EBI-1222527 MINT-16578 MINT-16579

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IDA	12888622
GO:0007165	signal transduction	TAS	1373520
GO:0042981	regulation of apoptosis	IEA	--
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	IEP	12761501

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for CASP1

Sigma-Aldrich Small Molecules for CASP1:

Inhibitor

Compounds for CASP1 available from Tocris Bioscience

Compound	Action	CAS number
Ac-DEVD-AFC	Fluorogenic caspase substrate	[201608-14-2]
Ac-LEHD-AFC	Fluorogenic caspase substrate	[210345-03-2]
Ac-YVAD-AFC	Fluorogenic caspase-1 (ICE) substrate	[219137-85-6]
Z-YVAD-FMK	Caspase-1 (ICE) inhibitor

About this table

10/49 Novoseek chemical compound relationships for CASP1 gene (see all 49 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pralnacasan	76.40	5	14610233 (2), 11772244 (1), 11966457 (1), 12789619 (1)
tetrapeptide	67.35	15	8972182 (1), 10194182 (1), 15389593 (1), 8620480 (1) (see all 13)
evodiamine	51.96	3	12567888 (1), 12708481 (1), 14600398 (1)
flagellin	47.69	12	16648852 (4), 16984919 (2), 17696608 (2), 18081695 (1) (see all 5)
ceramide	44.91	9	10438532 (2), 11960374 (1), 9000505 (1), 9053448 (1) (see all 7)
muramyl dipeptide	37.11	3	17349957 (1), 17418785 (1)
as 101	36.98	1	17572009 (1)
geranylgeraniol	36.21	4	15470035 (2), 9175767 (1)
atp	28.64	35	11056157 (3), 17132626 (2), 16301672 (2), 7499971 (2) (see all 22)
mevalonate	28.60	2	15470035 (1), 11164419 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CASP1)
		Millipore RNAi Products for the Analysis of CASP1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CASP1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001223

Sigma-Aldrich siRNA and siRNA Panels for CASP1

Sigma-Aldrich shRNA Panels and shRNA for CASP1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001223 NM_033292 NM_033293 NM_033294 NM_033295

REFSEQ mRNAs for CASP1 gene (5 alternative transcripts):

NM_001223.3 NM_033292.2 NM_033293.2 NM_033294.2 NM_033295.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001223 NM_033292 NM_033293 NM_033294 NM_033295

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001223
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001223
                                 untagged cDNA clones in CMV expression vector (see all 6): NM_001223

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 CR592117.1 M87507.1 U13697.1 U13698.1 U13699.1

U13700.1 X65019.1

13 DOTS entries:

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

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

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

BQ673033 BI819700 AW239393 BC062327 BI818813 AI493806 BC041689 BG215796

BX505922 U13697 CR592117 X65019 AU098419 AK125640 BC070196 BG390044

AI081712 BM552543 BM920134 AU134631 AU076811 BF003110 BQ001193 AI804392

highest scoring ESTs for CASP1:

M87507 AU098419 BG024814 BG573534 BM822454 BM832207 BQ673033 CD103082 CD634979 U13697

Unigene Cluster for CASP1:

Caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)

Hs.2490 [show with all ESTs]

Unigene Representative Sequence: AK223503

GeneLoc Exon Structure

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

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:																																							-				-

About this scheme

ECgene alternative splicing isoforms for CASP1

5 Ensembl transcripts including schematic representations:

ENST00000357835 ENST00000361806 ENST00000260309 ENST00000353247 ENST00000393136

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CASP1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CASP1

¹ / ² / ³

11 probe-sets matching CASP1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
574_s_at²^{, 3}	U95-A	1	1.00	1.00	0.94	1.24	M87507	1.00	1.00	1.00	1
39320_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.80	U13697	0.80	1.00	0.91	1
209970_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M87507	1.00	1.00	1.00	1
211368_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U13700	0.40	1.00	0.76	1
211367_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U13699	0.60	1.00	0.82	1
211366_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	U13698	0.60	1.00	0.82	1
209970_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211368_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211367_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211366_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
1552703_s_at²	U133Plus2	3	1.00	0.42	--	--	--	--	--	--	--

GeneDecks CASP1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCCGACAAGG

SOURCE GeneReport for Unigene cluster: Hs.2490
Expression variation in blood from EXPOLDB for CASP1
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CASP1 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	CASP1¹	--	caspase 1, apoptosis-related cysteine peptidase (interleukin more	98.68(n) 97.77(a)	451519 XM_001136115.1 XP_001136115.1
cow (Bos taurus)	CASP1¹	--	caspase 1, apoptosis-related cysteine peptidase (interleukin more	79.98(n) 70.72(a)	514214 XM_592026.3 XP_592026.2
rat (Rattus norvegicus)	Casp1¹	--	caspase 1	71.25(n) 63.25(a)	25166 NM_012762.2 NP_036894.2
mouse (Mus musculus)	Casp1^{1, 5}	9 (1.00 cM)⁵	caspase 1^{1, 5}	72.8(n)¹ 62.44(a)¹	12362¹ NM_009807.2¹ NP_033937.2¹ AK132826⁵ AK163069⁵ (see all 9)
chicken (Gallus gallus)	CASP1¹	--	caspase 1, apoptosis-related cysteine peptidase (interleukin more	59.68(n) 50.81(a)	395764 NM_204924.1 NP_990255.1

About this table Species with no ortholog for CASP1

ENSEMBL Gene Tree for CASP1

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

Paralogs for CASP1 gene

CASP5² CASP12² CASP4²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/103 NCBI SNPs in CASP1 are shown (see all 103 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 65)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs481736^1,2	A,C,F,H	104411920(-)	`AGTTCG/AACATT`	5	--	ng3¹		7		NA EU EA WA	562
	rs483345^1,2	A,C,F,H	104401436(-)	`GTCCTC/TATTTT`	5	--	ng5¹		10		EA NA EU WA	868
	rs507509^1,2	C,F,H	104401086(-)	`GACAGC/TGACAG`	5	--	ng5¹		11		EU EA WA NA	974
	rs7112592^1,2	C,F,H	104401324(+)	`GTTCTG/TGGAAA`	5	--	ng5¹		4		EU EA WA	418
--	rs1042743^1,2	A,F,H	104410375(-)	`TATCCG/ATTCCA`	5	H/R	mis¹ ese³		4		EU EA WA	358
	rs504054^1,2	F,H	104401257(+)	`TAATAA/GCATTG`	5	--	ng5¹		4		EU EA WA	378
--	rs558315^1,2	A,C	104412374(-)	`ggtgaC/Gatttg`	5	--	ng3¹		0	--	--	--	--
	rs507438^1,2	F,H	104401111(-)	`GAGACG/AGGGGA`	5	--	ng5¹		4		EU EA WA	408
	rs3809024^1,2	H	104411149(+)	`ACTGTG/ACATGC`	5	--	ng3¹		4		EU EA WA	418
	rs12226803^1,2	H	104411886(+)	`TTGTAG/AAGGCC`	5	--	ng3¹		4		EU EA WA	420

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HapMap Linkage Disequilibrium images for CASP1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 147678

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
muckle-wells syndrome	78.00	1	16081838 (1)
cold hypersensitivity	65.99	1	16081838 (1)
cowpox	60.67	8	8034697 (2), 16465268 (1), 8972182 (1), 9829999 (1) (see all 5)
inflammation	56.42	43	18828051 (3), 10931347 (3), 7780029 (1), 11736994 (1) (see all 34)
cinca syndrome	55.25	2	15476236 (1), 16081838 (1)
familial mediterranean fever	53.38	3	17964261 (1), 16785446 (1), 18577712 (1)
necrosis	53.22	22	17374996 (3), 12934070 (2), 9726961 (1), 9343438 (1) (see all 16)
tumors	36.12	38	11043837 (2), 9377572 (2), 9661876 (2), 12794166 (1) (see all 26)
salmonella infections	34.86	2	15528373 (1), 18667412 (1)
neurodegeneration	34.14	5	10374748 (1), 10203693 (1), 10666665 (1), 9118318 (1) (see all 5)

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1 PharmGKB disease relationship for CASP1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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Human Genome Epidemiology Navigator: CASP1 (11 documents)
Tumor Gene Database: CASP1

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/843 PubMed articles for CASP1 gene (see all 843 ):

Molecular cloning of the interleukin-1 beta converting enzyme. (PubMed id 1373520)^{2, 3, 4} 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, 3, 4} Alnemri E.S.... Litwack G. (1995)
NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PubMed id 15030775)^{1, 3, 4} Agostini L....Tschopp J. (2004)
Crystal structures of a ligand-free and malonate-bound human caspase- 1: implications for the mechanism of substrate binding. (PubMed id 15296730)^{1, 3, 4} Romanowski M.J.... McDowell R.S. (2004)
A combinatorial approach for determining protease specificities: application to interleukin-1beta converting enzyme (ICE). (PubMed id 9190289)^{1, 3, 4} Rano T.A.... Thornberry N.A. (1997)
A novel heterodimeric cysteine protease is required for interleukin-1 beta processing in monocytes. (PubMed id 1574116)^{1, 3, 4} Thornberry N.A.... Tocci M.J. (1992)
Caspase-1 zeta, a new splice variant of caspase-1 gene. (PubMed id 15498465)^{3, 4} Feng Q.... Auersperg N. (2004)
INCA, a novel human caspase recruitment domain protein that inhibits interleukin-1beta generation. (PubMed id 15383541)^{3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
Peptide based interleukin-1 beta converting enzyme (ICE) inhibitors: synthesis, structure activity relationships and crystallographic study of the ICE-inhibitor complex. (PubMed id 9987822)^{3, 4} Okamoto Y.... Isomura Y. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 834	HGNC: 1499	AceView: CASP1andCOP	Ensembl:ENSG00000137752	euGenes: HUgn834
ECgene: CASP1	H-InvDB: CASP1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for CASP1	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for CASP1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CASP1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CASP1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
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	Predesigned and custom siRNAs for CASP1		Antibodies for CASP1
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	"Your Favorite Gene" Pathways		feedback

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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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	shRNA in GFP-retroviral vector

Tocris compounds for CASP1

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	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for CASP1

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CASP1 Gene

protein-coding GIFtS: 72

Aliases &
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for CASP1

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for CASP1

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for CASP1

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for CASP1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CASP1 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor CASP1

Summariesfor CASP1

Genomic Locationfor CASP1

Proteinsfor CASP1

Protein Domains/Familiesfor CASP1

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Publicationsfor CASP1

Search for CASP1

Genome Databases showing CASP1

Other Databases showing CASP1

Specialized Databases showing CASP1

Licensable Technologiesfor CASP1

Servicesfor CASP1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CASP1

Summaries
for CASP1

Genomic Location
for CASP1

Proteins
for CASP1

Protein Domains/
Families
for CASP1

Gene Function
for CASP1

Pathways & Interactions
for CASP1

Drugs & Compounds
for CASP1

Transcripts
for CASP1

Expression
for CASP1

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for CASP1

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for CASP1

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for CASP1

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for CASP1

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for CASP1

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