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    CASP1 caspase 1 [ Homo sapiens (human) ]

    Gene ID: 834, updated on 29-Jun-2016
    Official Symbol
    CASP1provided by HGNC
    Official Full Name
    caspase 1provided by HGNC
    Primary source
    HGNC:HGNC:1499
    See related
    Ensembl:ENSG00000137752 HPRD:00977; MIM:147678; Vega:OTTHUMG00000048072
    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]
    Orthologs
    Location:
    11q23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (105025508..105035591, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104896235..104905884, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 4 Neighboring gene caspase 5 Neighboring gene uncharacterized LOC107984381 Neighboring gene caspase recruitment domain family member 16 Neighboring gene caspase 1 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activator activity involved in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    NOT cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to organic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-1 beta production IEA
    Inferred from Electronic Annotation
    more info
     
    membrane hyperpolarization IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of interleukin-1 alpha secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-1 beta secretion IEA
    Inferred from Electronic Annotation
    more info
     
    programmed necrotic cell death IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyroptosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    toxin transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    AIM2 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT IPAF inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    IPAF inflammasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NLRP1 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NLRP3 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    caspase-1
    Names
    CASP1 nirs variant 1
    IL-1 beta-converting enzyme
    IL1B-convertase
    caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)
    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

    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_029124.1 RefSeqGene

      Range
      4974..14623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001223.4NP_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, U13697
      Consensus CDS
      CCDS8329.1
      UniProtKB/Swiss-Prot
      P29466
      Related
      ENSP00000432340, OTTHUMP00000232030, ENST00000527979, OTTHUMT00000388115
      Conserved Domains (2) summary
      cd00032
      Location:131380
      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 ...
      cd08325
      Location:587
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
    2. NM_001257118.2NP_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
      P29466
      UniProtKB/TrEMBL
      A8K249
      Related
      ENSP00000433138, OTTHUMP00000232031, ENST00000533400, OTTHUMT00000388116
      Conserved Domains (2) summary
      cd00032
      Location:152401
      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 ...
      cd08325
      Location:587
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
    3. NM_001257119.2NP_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/Swiss-Prot
      P29466
      UniProtKB/TrEMBL
      A8K257
      Related
      ENSP00000434779, OTTHUMP00000232032, ENST00000525825, OTTHUMT00000388117
      Conserved Domains (2) summary
      cd00032
      Location:131380
      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 ...
      cd08325
      Location:587
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
    4. NM_033292.3NP_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, M87507
      Consensus CDS
      CCDS8330.1
      UniProtKB/Swiss-Prot
      P29466
      Related
      ENSP00000410076, OTTHUMP00000045728, ENST00000436863, OTTHUMT00000109396
      Conserved Domains (2) summary
      cd00032
      Location:152401
      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 ...
      cd08325
      Location:587
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
    5. NM_033293.3NP_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, U13698
      Consensus CDS
      CCDS53704.1
      UniProtKB/Swiss-Prot
      P29466
      Related
      ENSP00000434250, OTTHUMP00000232029, ENST00000526568, OTTHUMT00000388114
      Conserved Domains (1) summary
      cd00032
      Location:59308
      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 ...
    6. NM_033294.3NP_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, U13699
      Consensus CDS
      CCDS8331.1
      UniProtKB/Swiss-Prot
      P29466
      Related
      ENSP00000403260, ENST00000446369
      Conserved Domains (1) summary
      cd00032
      Location:59260
      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 ...
    7. NM_033295.3NP_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, U13700
      Consensus CDS
      CCDS8332.1
      UniProtKB/Swiss-Prot
      P29466
      Related
      ENSP00000344132, ENST00000353247
      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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      105025508..105035591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018395.1XP_016873884.1  

    2. XM_017018394.1XP_016873883.1  

    3. XM_017018393.1XP_016873882.1  

    4. XM_017018396.1XP_016873885.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      104779164..104788813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)