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    CASP1 caspase 1 [ Homo sapiens (human) ]

    Gene ID: 834, updated on 27-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CASP1 in Genome Data Viewer
    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_000011.10Genomic 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 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

    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_2024_08

    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

    2. XM_017018394.2XP_016873883.2  caspase-1 isoform X1

    3. XM_017018393.2XP_016873882.2  caspase-1 isoform X1

    4. XM_017018396.2XP_016873885.1  caspase-1 isoform X4

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

      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

    2. XM_054370128.1XP_054226103.1  caspase-1 isoform X1

    3. XM_054370127.1XP_054226102.1  caspase-1 isoform X1

    4. XM_054370130.1XP_054226105.1  caspase-1 isoform X4