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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001226 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 NM_032992 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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx       highly   salivary gland       highly Endocrine parathyroid       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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurology neurodegenerative alzheimer pro-Casp6b is a potential inhibitor of pro-Casp6a activation and is a novel therapeutic target against neurodegeneration

ANIMAL & CELL MODELS