CASP1 caspase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP1provided by HGNC
Official Full Name: caspase 1provided by HGNC
Primary source: HGNC:HGNC:1499
See related: Ensembl:ENSG00000137752 MIM:147678; AllianceGenome:HGNC:1499
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ICE; P45; IL1BC
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 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]
Expression: Broad expression in small intestine (RPKM 39.5), duodenum (RPKM 37.3) and 21 other tissues See more
Orthologs: all
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Genomic context

Location:: 11q22.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (105025443..105036686, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (105029522..105040777, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (104896170..104905871, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells.
Title: TNF-ɑ induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells.
PRDM1 promotes nucleus pulposus cell pyroptosis leading to intervertebral disc degeneration via activating CASP1 transcription.
Title: PRDM1 promotes nucleus pulposus cell pyroptosis leading to intervertebral disc degeneration via activating CASP1 transcription.
Immunohistochemical Expression of Caspase1 and Epidermal Growth Factor Receptor in Invasive Breast Carcinoma and Their Biological and Prognostic Associations.
Title: Immunohistochemical Expression of Caspase1 and Epidermal Growth Factor Receptor in Invasive Breast Carcinoma and Their Biological and Prognostic Associations.
High expression of CASP1 induces atherosclerosis.
Title: High expression of CASP1 induces atherosclerosis.
Force-induced Caspase-1-dependent pyroptosis regulates orthodontic tooth movement.
Title: Force-induced Caspase-1-dependent pyroptosis regulates orthodontic tooth movement.
[Expressions of NLRP3, Caspase-1, and GSDMD in nasopharyngeal carcinoma tissue and association with recurrence and metastasis].
Title: [Expressions of NLRP3, Caspase-1, and GSDMD in nasopharyngeal carcinoma tissue and association with recurrence and metastasis].
Abnormal expression of miR-3653-3p, caspase 1, IL-1beta in peripheral blood of schizophrenia.
Title: Abnormal expression of miR-3653-3p, caspase 1, IL-1β in peripheral blood of schizophrenia.
Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis.
Title: Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis.
Testis cell pyroptosis mediated by CASP1 and CASP4: possible sertoli cell-only syndrome pathogenesis.
Title: Testis cell pyroptosis mediated by CASP1 and CASP4: possible sertoli cell-only syndrome pathogenesis.
Overexpression of CASP1 triggers acute promyelocytic leukemia cell pyroptosis and differentiation.
Title: Overexpression of CASP1 triggers acute promyelocytic leukemia cell pyroptosis and differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (234)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1-infected clinical samples have increased plasma levels of CASP1 (Caspase-1) concomitant with higher levels of CD4+ T lymphocytes	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced apoptosis in Spodoptera frugiperda cells is caspase-1-dependent	PubMed
	env	Up-regulation of apoptosis genes such as caspase 1, NALP1, and TNF receptor-associated factor 5 are induced by HIV-gp120/ethanol in human neurons	PubMed
	env	Apoptosis induced by HIV-1 gp120/CD4 cross-linking in Th1 clones is inhibited by anti-CD95 or anti-CD95L neutralizing monoclonal antibodies, as well as by a specific interleukin-1 beta converting enzyme (ICE) inhibitor	PubMed
Vpr	vpr	HIV-1 Vpr-induced apoptosis involves activation of caspases and the involvement of caspase 1 is suggested based on studies with mice transgenic for the HIV-1 vpr gene	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-81423 (e-PCR)
- UniSTS:103180

GDB:197846 (e-PCR)
- UniSTS:155964

D11S4052E (e-PCR)
- UniSTS:153930

RH93671 (e-PCR)
- UniSTS:88476

IL1BCE (e-PCR)
- UniSTS:43934

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables cysteine-type endopeptidase activator activity involved in apoptotic process	TAS Traceable Author Statement more info	PubMed
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AIM2 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to type II interferon	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytokine precursor processing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in defense response to bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in icosanoid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in osmosensory signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-1 beta production	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of interleukin-18 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autoprocessing	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in signaling receptor ligand precursor processing	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of AIM2 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AIM2 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of AIM2 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
part_of IPAF inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of IPAF inflammasome complex	ISS Inferred from Sequence or Structural Similarity more info
part_of NLRP1 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP1 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
part_of NLRP3 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP3 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP3 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
part_of canonical inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
part_of canonical inflammasome complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in microtubule	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protease inhibitor complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: caspase-1

Names: IL-1 beta-converting enzyme; IL1B-convertase; caspase 1, apoptosis-related cysteine peptidase; interleukin 1, beta, convertase; interleukin 1-B converting enzyme

NP_001214.1

EC 3.4.22.36

NP_001244047.1

EC 3.4.22.36

NP_001244048.1

EC 3.4.22.36

NP_150634.1

EC 3.4.22.36

NP_150635.1

EC 3.4.22.36

NP_150636.1

EC 3.4.22.36

NP_150637.1

EC 3.4.22.36

XP_016873882.2

EC 3.4.22.36

XP_016873883.2

EC 3.4.22.36

XP_016873884.2

EC 3.4.22.36

XP_016873885.1

EC 3.4.22.36

XP_047283631.1

EC 3.4.22.36

XP_054226102.1

EC 3.4.22.36

XP_054226103.1

EC 3.4.22.36

XP_054226104.1

EC 3.4.22.36

XP_054226105.1

EC 3.4.22.36

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029124.2 RefSeqGene

Range

4987..14623

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001223.5 → NP_001214.1 caspase-1 isoform beta precursor

See identical proteins and their annotated locations for NP_001214.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) lacks an in-frame exon in the coding region, compared to variant alpha. Variant beta encodes a protein lacking an internal segment, compared to isoform alpha.Variant beta and variant 7 encode the same protein.

Source sequence(s)

AA505065, AP001153, KF455483, U13697

Consensus CDS

CCDS8329.1

UniProtKB/TrEMBL

A8K257

Related

ENSP00000512117.1, ENST00000695719.1

Conserved Domains (2) summary

smart00115
Location:132 → 381

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cd08325
Location:5 → 87

CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
NM_001257118.3 → NP_001244047.1 caspase-1 isoform alpha precursor

See identical proteins and their annotated locations for NP_001244047.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 3' UTR compared to variant alpha. Variant alpha and variant 6 encode the same protein.

Source sequence(s)

AA737419, AK290114, AP001153, KF455483

Consensus CDS

CCDS8330.1

UniProtKB/Swiss-Prot

B5MDZ1, P29466, Q53EY6, Q6DMQ1, Q6GSS3, Q6PI75, Q9UCN3

UniProtKB/TrEMBL

A8K249, B2R8U9

Related

ENSP00000433138.1, ENST00000533400.6

Conserved Domains (2) summary

smart00115
Location:153 → 402

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cd08325
Location:5 → 87

CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
NM_001257119.3 → NP_001244048.1 caspase-1 isoform beta precursor

See identical proteins and their annotated locations for NP_001244048.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an alternate in-frame exon and differs in the 3' UTR compared to variant alpha. Variant beta and variant 7 encode the same protein.

Source sequence(s)

AA737419, AK290122, AP001153, KF455483

Consensus CDS

CCDS8329.1

UniProtKB/TrEMBL

A8K257

Related

ENSP00000434779.1, ENST00000525825.6

Conserved Domains (2) summary

smart00115
Location:132 → 381

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cd08325
Location:5 → 87

CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
NM_033292.4 → NP_150634.1 caspase-1 isoform alpha precursor

See identical proteins and their annotated locations for NP_150634.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) encodes the longest isoform (alpha). Variant alpha and variant 6 encode the same protein.

Source sequence(s)

AA505065, AP001153, KF455483, M87507

Consensus CDS

CCDS8330.1

UniProtKB/Swiss-Prot

B5MDZ1, P29466, Q53EY6, Q6DMQ1, Q6GSS3, Q6PI75, Q9UCN3

UniProtKB/TrEMBL

A8K249, B2R8U9

Related

ENSP00000410076.3, ENST00000436863.7

Conserved Domains (2) summary

smart00115
Location:153 → 402

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cd08325
Location:5 → 87

CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
NM_033293.4 → NP_150635.1 caspase-1 isoform gamma

See identical proteins and their annotated locations for NP_150635.1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant gamma encodes a protein lacking an internal segment, as compared to isoform alpha.

Source sequence(s)

AA761907, AP001153, KF455483, U13698

Consensus CDS

CCDS53704.1

UniProtKB/TrEMBL

A8K257

Related

ENSP00000434250.1, ENST00000526568.5

Conserved Domains (1) summary

smart00115
Location:60 → 309

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
NM_033294.4 → NP_150636.1 caspase-1 isoform delta

See identical proteins and their annotated locations for NP_150636.1

Status: REVIEWED

Description

Transcript Variant: This variant (delta) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant delta encodes a protein lacking two internal segments, compared to the isoform alpha. Isoform delta lacks apoptosis-inducing activity.

Source sequence(s)

AA761907, AP001153, KF455483, U13699

Consensus CDS

CCDS8331.1

UniProtKB/Swiss-Prot

P29466

Related

ENSP00000436875.1, ENST00000534497.5

Conserved Domains (1) summary

smart00115
Location:60 → 261

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
NM_033295.4 → NP_150637.1 caspase-1 isoform epsilon

See identical proteins and their annotated locations for NP_150637.1

Status: REVIEWED

Description

Transcript Variant: This variant (epsilon) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant epsilon encodes a protein lacking an internal segment, compared to isoform alpha. Isoform epsilon lacks apoptosis-inducing activity.

Source sequence(s)

AA761907, AP001153, KF455483, U13700

Consensus CDS

CCDS8332.1

UniProtKB/Swiss-Prot

P29466

Related

ENSP00000434303.1, ENST00000531166.5

Conserved Domains (1) summary

cl00042
Location:13 → 86

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...