CASP1 Gene

HGNC Family	Caspases (CASP)
Name	caspase 1, apoptosis-related cysteine peptidase
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Caspase‐1 is a central effector of innate immunity that is activated within multi‐protein “inflammasome” complexes assembled in response to diverse microbial and endogenous danger signals."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Once assembled, sensor proteins (including members such as NLRP3, AIM2, and cryopyrin) recruit the adaptor ASC to facilitate proximity‐induced autoactivation of caspase‐1. Active caspase‐1 mediates the proteolytic cleavage of the inactive pro‐forms of key proinflammatory cytokines interleukin‐1β and interleukin‐18 into their bioactive forms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": " In parallel, caspase‐1 cleaves substrates such as gasdermin D to generate an N‐terminal fragment that forms plasma membrane pores, thereby initiating a lytic and inflammatory form of programmed cell death known as pyroptosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "12"}]}, {"type": "t", "text": " This dual role in cytokine maturation and the execution of pyroptosis not only amplifies acute inflammatory responses that aid in the clearance of intracellular pathogens but also, when dysregulated, contributes to the pathogenesis of a wide range of inflammatory, metabolic, neurodegenerative, and cardiovascular diseases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "17"}]}, {"type": "t", "text": " Moreover, caspase‐1 activation can promote the rapid release of intracellular contents that further orchestrate both innate and adaptive immune responses, thereby serving as a key molecular link between pathogen sensing and the ultimate clearance of infection."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "21"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fabio Martinon, Kimberly Burns, Jürg Tschopp "}, {"type": "b", "children": [{"type": "t", "text": "The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s1097-2765(02)00599-3"}], "href": "https://doi.org/10.1016/s1097-2765(02"}, {"type": "t", "text": "00599-3) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12191486"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12191486"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sanjeev Mariathasan, David S Weiss, Kim Newton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cryopyrin activates the inflammasome in response to toxins and ATP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature04515"}], "href": "https://doi.org/10.1038/nature04515"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16407890"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16407890"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Veit Hornung, Andrea Ablasser, Marie Charrel-Dennis, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature15514"}], "href": "https://doi.org/10.1038/nature15514"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26375003"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26375003"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Xing Liu, Zhibin Zhang, Jianbin Ruan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inflammasome-activated gasdermin D causes pyroptosis by forming membrane pores."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature18629"}], "href": "https://doi.org/10.1038/nature18629"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27383986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27383986"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yupeng Wang, Wenqing Gao, Xuyan Shi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature22393"}], "href": "https://doi.org/10.1038/nature22393"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28459430"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28459430"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "W K Eddie Ip, Namiko Hoshi, Dror S Shouval, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature08938"}], "href": "https://doi.org/10.1038/nature08938"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20428172"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20428172"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Bolormaa Vandanmagsar, Yun-Hee Youm, Anthony Ravussin, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature11729"}], "href": "https://doi.org/10.1038/nature11729"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23254930"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23254930"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Geun-Shik Lee, Naeha Subramanian, Andrew I Kim, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature04517"}], "href": "https://doi.org/10.1038/nature04517"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16407888"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16407888"}]}]}]}
Synonyms	IL1BC, ICE, P45
Proteins	CASP1_HUMAN
NCBI Gene ID	834
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CASP1 has 10,734 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 113 datasets.

Click the + buttons to view associations for CASP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CASP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CASP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CASP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CASP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CASP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CASP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving CASP1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CASP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CASP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CASP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CASP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CASP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CASP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CASP1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CASP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CASP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CASP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CASP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CASP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CASP1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CASP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CASP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CASP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CASP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CASP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CASP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CASP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CASP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CASP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CASP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CASP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CASP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CASP1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CASP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CASP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CASP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CASP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CASP1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CASP1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of CASP1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CASP1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.