Gene Gene information from NCBI Gene database.
Entrez ID 834
Gene name Caspase 1
Gene symbol CASP1
Synonyms (NCBI Gene)
ICEIL1BCP45
Chromosome 11
Chromosome location 11q22.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
18
miRTarBase ID miRNA Experiments Reference
MIRT642898 hsa-miR-4712-3p HITS-CLIP 23824327
MIRT642897 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT642896 hsa-miR-1236-3p HITS-CLIP 23824327
MIRT642895 hsa-miR-412-3p HITS-CLIP 23824327
MIRT642894 hsa-miR-6754-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ETS1 Activation 16103071
TP53 Unknown 11278253
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 22464733
GO:0001778 Process Plasma membrane repair IDA 20530211
GO:0002221 Process Pattern recognition receptor signaling pathway NAS 21918512, 22258606, 29196474, 29247998
GO:0004175 Function Endopeptidase activity IDA 24548080
GO:0004197 Function Cysteine-type endopeptidase activity IDA 1574116, 2787508, 9334240, 11821383, 15030775, 15326478, 16920334, 22464733, 32109412, 32553275
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147678 1499 ENSG00000137752
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29466
Protein 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]
Protein function Thiol protease involved in a variety of inflammatory processes by proteolytically cleaving other proteins, such as the precursors of the inflammatory cytokines interleukin-1 beta (IL1B) and interleukin 18 (IL18) as well as the pyroptosis inducer
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 , 5MTK , 6BZ9 , 6F6R , 6KN0 , 6PZP , 6VIE , 7KEU , 8SV1 , 8WRA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 3 90 Caspase recruitment domain Domain
PF00656 Peptidase_C14 163 400 Domain
Tissue specificity 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. {ECO:0000269|PubMed:154984
Sequence
Sequence length 404
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis
Necroptosis
Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
Amyotrophic lateral sclerosis
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Influenza A
Coronavirus disease - COVID-19
Lipid and atherosclerosis
  NOD1/2 Signaling Pathway
Interleukin-1 processing
TP53 Regulates Transcription of Caspase Activators and Caspases
The NLRP3 inflammasome
The IPAF inflammasome
Interleukin-37 signaling
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CASP1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 28456882
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 12894591
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28052562
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28823375
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28383547
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 9973322
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 23075869
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 22408263, 28143954
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 27098789
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 23221073, 29454857
★☆☆☆☆
Found in Text Mining only