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    CASP4 caspase 4, apoptosis-related cysteine peptidase [ Homo sapiens ]

    Gene ID: 837, updated on 5-Feb-2012

    Summary

    Official Symbol
    CASP4provided by HGNC
    Official Full Name
    caspase 4, apoptosis-related cysteine peptidaseprovided by HGNC
    Primary source
    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]

    Genomic context

    Location :
    11q22.2-q22.3
    Sequence :
    Chromosome: 11; NC_000011.9 (104813594..104839325, complement)
    See CASP4 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene caspase 12 (gene/pseudogene) Neighboring gene caspase 4, apoptosis-related cysteine peptidase pseudogene Neighboring gene caspase 5, apoptosis-related cysteine peptidase Neighboring gene caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001216.1 NP_015557.1 PSEN1    BIND  PubMed PS1 interacts with caspase 4. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 4. 
    P49662 O14727 APAF1    HPRD  PubMed  
    P49662 P05067 APP    HPRD  PubMed  
    P49662 Q92851 CASP10    HPRD  PubMed  
    P49662 P31944 CASP14    HPRD  PubMed  
    P49662 P42574 CASP3    HPRD  PubMed  
    P49662 P49662 CASP4    HPRD  PubMed  
    P49662 P15924 DSP    HPRD  PubMed  
    P49662 Q14116 IL18    HPRD  PubMed  
    P49662 P01584 IL1B    HPRD  PubMed  
    P49662 Q9Y239 NOD1    HPRD  PubMed  
    P49662 P47712 PLA2G4A    HPRD  PubMed  
    P49662 P49768 PSEN1    HPRD  PubMed  
    P49662 P50453 SERPINB9    HPRD  PubMed  
    BioGRID:107287 BioGRID:106814 APAF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107287 BioGRID:107284 CASP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107287 BioGRID:107293 CASP10    BioGRID  PubMed Biochemical Activity 
    BioGRID:107287 BioGRID:117116 CASP14    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107287 BioGRID:107291 CASP8    BioGRID  PubMed Biochemical Activity 
    BioGRID:107287 BioGRID:107452 CDK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:121313 CTNNBIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:108287 EIF2S3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:116181 GCN1L1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:109189 GSN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:120260 HEATR2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:109819 IL18    BioGRID  PubMed Biochemical Activity 
    BioGRID:107287 BioGRID:118054 IL37    BioGRID  PubMed Biochemical Activity 
    BioGRID:107287 BioGRID:109211 MSH6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:117409 MTHFD1L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:123868 MYCBPAP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:115664 NOD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107287 BioGRID:115041 NUP93    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:111662 PSMB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:122862 SLC25A22    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:113871 SMC1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:115841 SMC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:114574 SMC3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:121810 SRPRB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:116953 UFL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:113867 USP9X    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:113262 VDAC3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107287 BioGRID:106828 XIAP    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
      NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    induction of apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    caspase-4
    Names
    caspase-4
    CASP-4
    ICE(rel)-II
    protease TX
    protease ICH-2
    apoptotic cysteine protease Mih1/TX
    caspase 4, apoptosis-related cysteine protease
    NP_001216.1
    NP_150649.1

    NCBI Reference Sequences (RefSeq)

    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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) encodes the longest isoform (alpha).
      Source sequence(s)
      AI128358, CN261701, Z48810
      Consensus CDS
      CCDS8327.1
      UniProtKB/TrEMBL
      A2NHL8
      UniProtKB/Swiss-Prot
      P49662
      Related
      ENSP00000388566, OTTHUMP00000231863, ENST00000444739, OTTHUMT00000387751
      Conserved Domains (2) summary
      cd00032
      Location:125374
      Blast Score: 659
      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
      Blast Score: 204
      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

      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/TrEMBL
      A2NHM0
      Related
      ENSP00000376857, OTTHUMP00000231864, ENST00000393150, OTTHUMT00000387752
      Conserved Domains (2) summary
      cd00032
      Location:69318
      Blast Score: 656
      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
      Blast Score: 89
      DD_superfamily; The Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      104813594..104839325, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      100744534..100770269, 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.

      Supplemental Content

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