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CASP1 caspase 1 [ Homo sapiens (human) ]

Gene ID: 834, updated on 7-Jul-2024

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
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Genomic context

See CASP1 in Genome Data Viewer
Location:
11q22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (105025443..105036686, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (105029522..105040777, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104896170..104905871, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 4 Neighboring gene uncharacterized LOC124902813 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:104839101-104840300 Neighboring gene Sharpr-MPRA regulatory region 11455 Neighboring gene caspase 5 Neighboring gene uncharacterized LOC124902742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5460 Neighboring gene uncharacterized LOC107984381 Neighboring gene caspase recruitment domain family member 16 Neighboring gene caspase 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CARD domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables caspase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 involved in apoptotic process 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

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
NP_001244047.1
NP_001244048.1
NP_150634.1
NP_150635.1
NP_150636.1
NP_150637.1
XP_016873882.2
XP_016873883.2
XP_016873884.2
XP_016873885.1
XP_047283631.1
XP_054226102.1
XP_054226103.1
XP_054226104.1
XP_054226105.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_029124.2 RefSeqGene

    Range
    4987..14623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001223.5NP_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:132381
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  2. NM_001257118.3NP_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:153402
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  3. NM_001257119.3NP_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:132381
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  4. NM_033292.4NP_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:153402
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  5. NM_033293.4NP_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:60309
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  6. NM_033294.4NP_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:60261
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  7. NM_033295.4NP_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:1386
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    105025443..105036686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018395.2XP_016873884.2  caspase-1 isoform X2

    UniProtKB/TrEMBL
    G3V169
  2. XM_017018394.2XP_016873883.2  caspase-1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIY2
  3. XM_017018393.2XP_016873882.2  caspase-1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIY2
  4. XM_017018396.2XP_016873885.1  caspase-1 isoform X4

    UniProtKB/TrEMBL
    A0A8Q3SIY2
  5. XM_047427675.1XP_047283631.1  caspase-1 isoform X3

    UniProtKB/TrEMBL
    A8K249, B2R8U9
    Related
    ENSP00000512114.1, ENST00000695715.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    105029522..105040777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370129.1XP_054226104.1  caspase-1 isoform X2

    UniProtKB/TrEMBL
    G3V169
  2. XM_054370128.1XP_054226103.1  caspase-1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIY2
  3. XM_054370127.1XP_054226102.1  caspase-1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIY2
  4. XM_054370130.1XP_054226105.1  caspase-1 isoform X4

    UniProtKB/TrEMBL
    A0A8Q3SIY2