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Aliases for CASP6 Gene

Aliases for CASP6 Gene

  • Caspase 6 2 3 5
  • Caspase 6, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 6, Apoptosis-Related Cysteine Protease 2 3
  • EC 3.4.22.59 4 63
  • MCH2 3 4
  • Apoptotic Protease MCH-2 3
  • Apoptotic Protease Mch-2 4
  • EC 3.4.22 63
  • CASP-6 4

External Ids for CASP6 Gene

Previous GeneCards Identifiers for CASP6 Gene

  • GC04M111026
  • GC04M110880
  • GC04M111068
  • GC04M110967
  • GC04M110829
  • GC04M110609
  • GC04M106342

Summaries for CASP6 Gene

Entrez Gene Summary for CASP6 Gene

  • 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]

GeneCards Summary for CASP6 Gene

CASP6 (Caspase 6) is a Protein Coding gene. Diseases associated with CASP6 include Huntington Disease and Alzheimer Disease. Among its related pathways are TWEAK Pathway and ERK Signaling. GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CASP1.

UniProtKB/Swiss-Prot for CASP6 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Tocris Summary for CASP6 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP6 Gene

Genomics for CASP6 Gene

Regulatory Elements for CASP6 Gene

Enhancers for CASP6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASP6 Gene

Chromosome:
4
Start:
109,688,622 bp from pter
End:
109,713,904 bp from pter
Size:
25,283 bases
Orientation:
Minus strand

Genomic View for CASP6 Gene

Genes around CASP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP6 Gene

Proteins for CASP6 Gene

  • Protein details for CASP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55212-CASP6_HUMAN
    Recommended name:
    Caspase-6
    Protein Accession:
    P55212
    Secondary Accessions:
    • Q9BQE7

    Protein attributes for CASP6 Gene

    Size:
    293 amino acids
    Molecular mass:
    33310 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 18 kDa (p18) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for CASP6 Gene

    Alternative splice isoforms for CASP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP6 Gene

Proteomics data for CASP6 Gene at MOPED

Post-translational modifications for CASP6 Gene

  • Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASP6 Gene

Domains & Families for CASP6 Gene

Gene Families for CASP6 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for CASP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55212

UniProtKB/Swiss-Prot:

CASP6_HUMAN :
  • Belongs to the peptidase C14A family.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP6: view

Function for CASP6 Gene

Molecular function for CASP6 Gene

GENATLAS Biochemistry:
caspase 6,effector,cysteine containing aspartate-specific protease,CASP3 subfamily,with two isoforms alpha and beta,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Val-Glu-His-Asp- -.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activation is suppressed by phosphorylation at Ser-257.
UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Enzyme Numbers (IUBMB) for CASP6 Gene

Gene Ontology (GO) - Molecular Function for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,TAS --
GO:0042802 identical protein binding IPI 20890311
genes like me logo Genes that share ontologies with CASP6: view
genes like me logo Genes that share phenotypes with CASP6: view

Animal Models for CASP6 Gene

MGI Knock Outs for CASP6:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP6

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CASP6 Gene

Localization for CASP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP6 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP6 Gene COMPARTMENTS Subcellular localization image for CASP6 gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CASP6: view

Pathways & Interactions for CASP6 Gene

genes like me logo Genes that share pathways with CASP6: view

SIGNOR curated interactions for CASP6 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 12888622
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0012501 programmed cell death TAS --
genes like me logo Genes that share ontologies with CASP6: view

Drugs & Compounds for CASP6 Gene

(16) Drugs for CASP6 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Z-VEID-FMK Pharma Inhibition, Inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(11) Additional Compounds for CASP6 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
MG 132
133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
PD 150606
179528-45-1

(5) Tocris Compounds for CASP6 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(1) ApexBio Compounds for CASP6 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
genes like me logo Genes that share compounds with CASP6: view

Drug Products

Transcripts for CASP6 Gene

Unigene Clusters for CASP6 Gene

Caspase 6, apoptosis-related cysteine peptidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASP6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - - - -

Relevant External Links for CASP6 Gene

GeneLoc Exon Structure for
CASP6
ECgene alternative splicing isoforms for
CASP6

Expression for CASP6 Gene

mRNA expression in normal human tissues for CASP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP6 Gene

This gene is overexpressed in Colon - Transverse (x4.6).

Protein differential expression in normal tissues from HIPED for CASP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.7), Lymph node (9.4), and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASP6 Gene



SOURCE GeneReport for Unigene cluster for CASP6 Gene Hs.654616

genes like me logo Genes that share expression patterns with CASP6: view

Protein tissue co-expression partners for CASP6 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CASP6 Gene

Orthologs for CASP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CASP6 35
  • 86.3 (n)
  • 86.3 (a)
CASP6 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASP6 35
  • 88.7 (n)
  • 90.07 (a)
CASP6 36
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casp6 35
  • 84.43 (n)
  • 90.88 (a)
Casp6 16
Casp6 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASP6 35
  • 96.79 (n)
  • 95.93 (a)
rat
(Rattus norvegicus)
Mammalia Casp6 35
  • 84.73 (n)
  • 89.45 (a)
oppossum
(Monodelphis domestica)
Mammalia CASP6 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP6 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP6 35
  • 72.88 (n)
  • 72.4 (a)
CASP6 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASP6 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casp6 35
  • 67.16 (n)
  • 68.13 (a)
Str.15354 35
African clawed frog
(Xenopus laevis)
Amphibia xCaspase-6 35
zebrafish
(Danio rerio)
Actinopterygii casp6 35
  • 67.04 (n)
  • 70.11 (a)
casp6 36
  • 65 (a)
OneToMany
casp6l1 36
  • 33 (a)
OneToMany
casp6l2 36
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.144 35
fruit fly
(Drosophila melanogaster)
Insecta Dcp-1 37
  • 38 (a)
decay 37
  • 34 (a)
Ice 37
  • 40 (a)
Dcp-1 36
  • 31 (a)
ManyToMany
decay 36
  • 30 (a)
ManyToMany
Ice 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7590 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6562 36
  • 34 (a)
OneToOne
Species with no ortholog for CASP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASP6 Gene

ENSEMBL:
Gene Tree for CASP6 (if available)
TreeFam:
Gene Tree for CASP6 (if available)

Paralogs for CASP6 Gene

Paralogs for CASP6 Gene

(4) SIMAP similar genes for CASP6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASP6: view

Variants for CASP6 Gene

Sequence variations from dbSNP and Humsavar for CASP6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs5030674 - 109,694,683(-) GCCAC(A/G)CAGAT reference, missense
rs5030593 - 109,690,949(+) ATCAG(A/T)CAGAG reference, missense
rs11574697 - 109,697,749(-) CGGCA(A/G)AAAAG intron-variant, reference, missense
rs768062 -- 109,698,977(-) cactt(C/T)catga intron-variant
rs768063 -- 109,699,300(-) AGTCC(A/G)TGCTT intron-variant

Variation tolerance for CASP6 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.38% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for CASP6 Gene

Disorders for CASP6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CASP6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search CASP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP6

Genetic Association Database (GAD)
CASP6
Human Genome Epidemiology (HuGE) Navigator
CASP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP6
genes like me logo Genes that share disorders with CASP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP6 Gene

Publications for CASP6 Gene

  1. Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. (PMID: 7796396) Fernandes-Alnemri T. … Alnemri E.S. (Cancer Res. 1995) 2 3 4 23 67
  2. Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. (PMID: 8780721) Tiso N. … Danieli G.A. (Biochem. Biophys. Res. Commun. 1996) 2 3 23
  3. MicroRNA profiling reveals new aspects of HIV neurodegeneration: caspase-6 regulates astrocyte survival. (PMID: 20097875) Noorbakhsh F. … Power C. (FASEB J. 2010) 3 23
  4. Identification of Caspase-6-mediated processing of the valosin containing protein (p97) in Alzheimer's disease: a novel link to dysfunction in ubiquitin proteasome system-mediated protein degradation. (PMID: 20427671) Halawani D. … LeBlanc A.C. (J. Neurosci. 2010) 3 23
  5. Expression analysis of caspase-6, caspase-9 and BNIP3 in prostate cancer. (PMID: 20437871) Yoo N.J. … Lee S.H. (Tumori 2010) 3 23

Products for CASP6 Gene

Sources for CASP6 Gene

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