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    CASP4 caspase 4 [ Homo sapiens (human) ]

    Gene ID: 837, updated on 7-Feb-2016
    Official Symbol
    CASP4provided by HGNC
    Official Full Name
    caspase 4provided by HGNC
    Primary source
    HGNC:HGNC:1505
    See related
    Ensembl:ENSG00000196954; HPRD:04047; MIM:602664; Vega:OTTHUMG00000166078
    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
    TX; ICH-2; Mih1/TX; ICEREL-II; ICE(rel)II
    Summary
    This gene encodes a protein that 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 composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
    Orthologs
    See CASP4 in Epigenomics, MapViewer
    Location:
    11q22.2-q22.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (104942866..104968598, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104813594..104839325, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 12 (gene/pseudogene) Neighboring gene caspase 4, apoptosis-related cysteine peptidase pseudogene Neighboring gene caspase 5 Neighboring gene caspase 1

    Related articles in PubMed

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      Caspase cascade in apoptosis
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to beta-amyloid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    AIM2 inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    IPAF inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NLRP3 inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    caspase-4
    Names
    CASP-4
    ICE(rel)-II
    apoptotic cysteine protease Mih1/TX
    caspase 4, apoptosis-related cysteine peptidase
    caspase 4, apoptosis-related cysteine protease
    protease ICH-2
    protease TX
    NP_001216.1
    NP_150649.1

    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.

    mRNA and Protein(s)

    1. NM_001225.3NP_001216.1  caspase-4 isoform alpha precursor

      See identical proteins and their annotated locations for NP_001216.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) encodes the longest isoform (alpha).
      Source sequence(s)
      AI128358, CN261701, Z48810
      Consensus CDS
      CCDS8327.1
      UniProtKB/Swiss-Prot
      P49662
      Conserved Domains (2) summary
      cd00032
      Location:125374
      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:581
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
    2. NM_033306.2NP_150649.1  caspase-4 isoform gamma precursor

      See identical proteins and their annotated locations for NP_150649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) includes an alternate exon in the 5' UTR and 5' coding region and uses a downstream in-frame start codon, compared to variant alpha. It encodes isoform gamma, which is shorter than isoform alpha.
      Source sequence(s)
      AI128358, U28978
      Consensus CDS
      CCDS41704.1
      UniProtKB/Swiss-Prot
      P49662
      Related
      ENSP00000376857, OTTHUMP00000231864, ENST00000393150, OTTHUMT00000387752
      Conserved Domains (2) summary
      cd00032
      Location:69318
      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 ...
      cl14633
      Location:125
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      104942866..104968598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543019.1XP_011541321.1  

      See identical proteins and their annotated locations for XP_011541321.1

      UniProtKB/TrEMBL
      Q7KYX7
      Conserved Domains (1) summary
      cd00032
      Location:34283
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      104696522..104722254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033307.2: Suppressed sequence

      Description
      NM_033307.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.