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CASP6 caspase 6 [ Homo sapiens (human) ]

Gene ID: 839, updated on 2-Oct-2018

Summary

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]
Expression
Broad expression in duodenum (RPKM 18.7), colon (RPKM 18.7) and 25 other tissues See more
Orthologs

Genomic context

See CASP6 in Genome Data Viewer
Location:
4q25
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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

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.

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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