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    CASP6 caspase 6 [ Homo sapiens (human) ]

    Gene ID: 839, updated on 22-Apr-2017
    Official Symbol
    CASP6provided by HGNC
    Official Full Name
    caspase 6provided by HGNC
    Primary source
    HGNC:HGNC:1507
    See related
    Ensembl:ENSG00000138794 MIM:601532; Vega:OTTHUMG00000131914
    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
    MCH2
    Summary
    This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. 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 acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    4q25
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (109688629..109703473, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110609785..110629814, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mitochondrial calcium uniporter dominant negative beta subunit Neighboring gene uncharacterized LOC107986302 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 14 Neighboring gene phospholipase A2 group XIIA Neighboring gene complement factor I

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed
    Vpr vpr Exposure of cultured human primary astrocytes to HIV-1 Vpr induces p53 up-regulation, loss of mitochondrial membrane potential, and caspase-6 activation followed by cell injury PubMed
    vpr Overexpression of caspase-6 is induced by HIV-1 Vpr in the transfected 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cysteine-type endopeptidase activity involved in execution phase of apoptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to staurosporine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    execution phase of apoptosis TAS
    Traceable Author Statement
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    caspase-6
    Names
    apoptotic protease MCH-2
    caspase 6, apoptosis-related cysteine peptidase
    caspase 6, apoptosis-related cysteine protease
    NP_001217.2
    NP_116787.1

    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_029187.1 RefSeqGene

      Range
      5001..19845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001226.3NP_001217.2  caspase-6 isoform alpha precursor

      See identical proteins and their annotated locations for NP_001217.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) represents the longer transcript and encodes the longer isoform (alpha).
      Source sequence(s)
      AC004067, BC000305, U20536
      Consensus CDS
      CCDS3684.1
      UniProtKB/Swiss-Prot
      P55212
      Related
      ENSP00000265164.2, OTTHUMP00000162742, ENST00000265164.6, OTTHUMT00000254866
      Conserved Domains (1) summary
      smart00115
      Location:37290
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    2. NM_032992.2NP_116787.1  caspase-6 isoform beta

      See identical proteins and their annotated locations for NP_116787.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) lacks several exons in the coding region but maintains the reading frame, compared to variant alpha. It encodes isoform beta which is shorter than isoform alpha.
      Source sequence(s)
      AC004067, BM837197, U20536, U20537
      Consensus CDS
      CCDS3685.1
      UniProtKB/Swiss-Prot
      P55212
      Related
      ENSP00000285333.3, OTTHUMP00000162743, ENST00000352981.7, OTTHUMT00000254867
      Conserved Domains (1) summary
      cd00032
      Location:14200
      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 ...

    RNA

    1. NR_133012.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) lacks an alternate internal exon, compared to variant alpha. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant alpha, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC004067, BX380795, U20536

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      109688629..109703473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      110586394..110601238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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