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FLASH GENE
Symbol CASP6 contributors: mct - updated : 30-03-2011
HGNC name caspase 6, apoptosis-related cysteine protease
HGNC id 1507
Location 4q25      Physical location : 110.609.784 - 110.624.629
Synonym name apoptotic protease MCH-2
Synonym symbol(s) MCH2
EC.number 3.4.22.36
DNA
TYPE functioning gene
STRUCTURE 14.84 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D4S1564 - D4S1571 - D4S406 - CASP6 - D4S1611 - D4S130 - qter
Authors Bullrich (96), Tiso (96)
Physical map
LOC391680 4 similar to ras-related C3 botulinum toxin substrate 1 isoform Rac1; rho family, small GTP binding protein Rac1 PAPSS1 4q24 3'-phosphoadenosine 5'-phosphosulfate synthase 1 MGC26963 4q25 hypothetical protein MGC26963 LOC113612 HADHSC 4q22-q26 L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain LEF1 4q23-q25 lymphoid enhancer-binding factor 1 LOC389215 4 LOC389215 LOC339979 4q25 similar to ligand-gated ion channel subunit LOC391681 4 similar to rexo70 FLJ37673 4q25 hypothetical protein FLJ37673 RPL34 4q24 ribosomal protein L34 DC2 4q25 DC2 protein AGXT2L1 4q25 alanine-glyoxylate aminotransferase 2-like 1 LOC391682 4 similar to RCC1-like COL25A1 4q25 collagen, type XXV, alpha 1 LOC389216 4 similar to heterogeneous nuclear ribonucleoprotein G - human SEC24B 4q24 SEC24 related gene family, member B (S. cerevisiae) LOC389217 4 similar to template acyivating factor-I alpha FLJ20647 4q25 hypothetical protein FLJ20647 CASP6 4q25 caspase 6, apoptosis-related cysteine protease PLA2G12 4q25 phospholipase A2, group XII IF 4q25 I factor (complement) NOLA1 4q28-q31.1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs) RRH 4q retinal pigment epithelium-derived rhodopsin homolog FLJ44691 4q25 FLJ44691 protein LOC391683 4 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene EGF 4q25 epidermal growth factor (beta-urogastrone) ELOVL6 4q25 ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC132706 4q25 similar to heat shock factor binding protein 1 LOC132707 4q25 similar to Ac-like transposable element; putative Ac-like transposon; zinc finger, BED domain containing 1 LOC391684 4 similar to ribosomal protein L7-like 1 LOC391685 4 similar to KIAA2033 protein ENPEP 4q25 glutamyl aminopeptidase (aminopeptidase A) PITX2 4q25-q27 paired-like homeodomain transcription factor 2 LOC391686 4 similar to lysophospholipase I; lysophospholipase 1; lysophospholipid-specific lysophospholipase; acyl-protein thioesterase-1 LOC132719 4q25-q26 similar to beta-tubulin 4Q LOC391687 4 similar to ribosomal protein S12
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1661 33 293 - 2010 20682790
  • MCH2-alpha, pro-CASP6a
  • its activity is abundant in the neuropil threads, neuritic plaques, and neurofibrillary tangles of sporadic and familial forms of Alzheimer disease brains and in the neurites and nuclei of apoptotic neurons in human fetal and adult ischemic brains
  • active CASP6a may be predominantly responsible for neurodegeneration rather than cell death
  • 4 - 1432 - 204 - 2010 20682790
  • MCH2-beta , pro-CASP6b
  • lacking protease activity
  • contains a catalytic site
  • inhibitor of pro-CASP6a
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
     salivary gland   highly
    Endocrineparathyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal (Fas-associating protein with DEATH domain) FADD-like death effector domain
  • a conserved QACXG pentapeptide active site motif
  • mono polymer heteromer , dimer
    isoforms Precursor precursor producing two subunits, large (18kDa) and small (16kDa) that dimerize
    HOMOLOGY
    Homologene
    FAMILY caspase family of cysteinyl-aspartate specific proteases
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli
    basic FUNCTION
  • cleaves poly(ADP-ribose) polymerase, as well as lamins
  • involved in the activation cascade of caspases responsible for apoptosis execution
  • could be an early instigator of neuronal dysfunction
  • regulates B cell activation and differentiation into plasma cells by modifying cell cycle entry
  • playing a role in N-terminal truncation of tau during neurofibrillary tangle evolution and the progression of Alzheimer's disease
  • its activity may be involved in the clinical manifestation of Huntington and Parkinson diseases
  • can be activated and regulated through intramolecular self-cleavage
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer of a 18 kDa (p18) and a 11 kDa (p11) subunit
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CASP3
  • CASP8
  • CASP10
  • IRAK3 is an important target for CASP6 (neutrophils activate alveolar macrophages by producing caspase-6-mediated cleavage of IRAK3)
  • BCL2L2 interacts with BAX and suppresses the CASP6 apoptotic cascade that fosters axonal degeneration
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    in familial forms of AD, as previously observed in sporadic forms
    tumoral     --low  
    might contribute to the pathogenesis of gastric cancers
    Susceptibility to Alzheimer disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    pro-Casp6b is a potential inhibitor of pro-Casp6a activation and is a novel therapeutic target against neurodegeneration
    ANIMAL & CELL MODELS