Format

Send to:

Choose Destination

CASP6 caspase 6 [ Homo sapiens (human) ]

Gene ID: 839, updated on 26-May-2016
Official Symbol
CASP6provided by HGNC
Official Full Name
caspase 6provided by HGNC
Primary source
HGNC:HGNC:1507
See related
Ensembl:ENSG00000138794 HPRD:03321; 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:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (109688628..109713904, 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 coiled-coil domain containing 109B Neighboring gene uncharacterized LOC105377361 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 14 Neighboring gene phospholipase A2 group XIIA Neighboring gene complement factor I Neighboring gene GAR1 ribonucleoprotein

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

  • 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 ...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    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 ...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation by HSP70, organism-specific biosystem
    Apoptosis Modulation by HSP70
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Breakdown of the nuclear lamina, organism-specific biosystem (from REACTOME)
    Breakdown of the nuclear lamina, organism-specific biosystemActivated caspases cleave nuclear lamins causing the irreversible breakdown of the nuclear lamina.
  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
    Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
    FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
    HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
    HIV-1 Nef: Negative effector of Fas and TNF-alpha
  • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
    Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    p75(NTR)-mediated signaling, organism-specific biosystem
    p75(NTR)-mediated signaling
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 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 component disassembly involved in execution phase of apoptosis TAS
Traceable Author Statement
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
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, OTTHUMP00000162742, ENST00000265164, OTTHUMT00000254866
    Conserved Domains (1) summary
    cd00032
    Location:37289
    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 ...
  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, OTTHUMP00000162743, ENST00000352981, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    109688628..109713904 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263271.3XP_005263328.1  

    Conserved Domains (1) summary
    cd00032
    Location:29281
    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_018915.2 Alternate CHM1_1.1

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