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FLASH GENE

Symbol

CASP14

contributors: mct - updated : 04-07-2017

HGNC name	caspase 14, apoptosis-related cysteine peptidase
HGNC id	1502

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCI12 congenital ichthyosis, autosomal recessive 12
Location	19p13.12      Physical location : 15.163.014 - 15.166.900
Synonym name	caspase 14
	apoptosis-related cysteine protease
	caspase-14 subunit p10
	caspase-14 subunit p19
Synonym symbol(s)	MICE, MGC119078, MGC119079, CASP-14
EC.number	3.4.22.-

DNA

TYPE	functioning gene
STRUCTURE	8.81 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	potential AP1/JUN and KLF4 interaction sites
	sequence elements in the proximal promoter were bound by the transcription factors AP-1 (JunB, c-Jun, JunD, Fra-1 and Fra-2) and NFkappaB

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012114 7 - 3153 NP_036246 27.5 242 - 2006 16854378

EXPRESSION

Type	restricted

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 Reproductive female system uterus     predominantly Skin/Tegument skin appendages hair follicle       skin appendages skin gland sebaceous gland     Urinary bladder       highly Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis     Homo sapiens Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Nervous astrocyte Homo sapiens skin tegument stratum granulosum Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an 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, that dimerize. Large subunit-mature peptide, 146 aa (1-146), 16.6 kda. Small subunit-mature peptide, 95 aa (147-242), 11.1 kda

HOMOLOGY

interspecies	homolog to rattus Casp14 (73pc)
	homolog to murine Casp14 (75.1pc)

Homologene

FAMILY	caspase family of cysteinyl-aspartate specific proteases
	peptidase C14 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli

basic FUNCTION	involved in the death receptor and granzyme B apoptotic pathways
	may function as a downstream signal transducer of cell death
	being important for the formation of the skin barrier
	non-apoptotic caspase involved in keratinocyte differentiation and cornification
	protease involved in skin barrier formation, and specifically expressed in epidermal keratinocytes
	anti-apoptotic protein targeting apoptosis-inducing factor and increases cisplatin resistance in lung adenocarcinomas cells
	crucial protease in filaggrin (FLG) catabolism
	might play a significant role in the pathogenesis of diabetic retinopathy (DR) by accelerating retinal pericytes (PCs) and endothelial cells (ECs) death
	CASP14 emerged as a marker of human skin differentiation during development, while KRT19 marked the germinative epithelial layers in the fetal epidermis and appendages and possibly the nests of epidermal stem cells
	can suppress placental cell differentiation through down-regulation of GCM1 activity
	epidermal PRSS3 and CASP14 work cooperatively in PSAP processing and they thereby contribute likely to permeability barrier formation
	contributes to RPE cell barrier disruption under hyperglycemic conditions and thus plays a role in the development of diabetic macular edema

CELLULAR PROCESS	cell life, cell death/apoptosis
	protein, degradation

PHYSIOLOGICAL PROCESS

development

text	epidermis development

PATHWAY

metabolism

signaling

signal transduction

a component

may dimerize with large prodomain caspases

INTERACTION

DNA

RNA

small molecule

protein	important role of AP-1 and NFkappaB in the transcriptional control of caspase-14
	caspase 14 is a novel target for the protease inhibitor SPINK5
	interaction with GATA3 (negatively regulates the tumor-initiating capacity of mammary luminal progenitor cells and targets the putative tumor suppressor CASP14)
	regulation of procaspase-14 maturation during keratinocyte terminal differentiation is a unique two-step process involving KLK7 and an activation intermediate of CASP14
	CASP14 proenzyme is a GCM1-interacting protein that suppresses GCM1 activity and syncytiotrophoblast differentiation

cell & other

REGULATION

activated by	processed CASP8, CASP10 in vitro
	anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo

Other	regulated at the transcription level during keratinocytes differentiation in presence of calcium
	is proteolytically activated to mediate filaggrin processing during keratinocyte differentiation

ASSOCIATED DISORDERS

corresponding disease(s)

ARCI12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   during trophoblast differentiation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Caspase-14-deficient mice display reduced epidermal barrier function and increased sensitivity to UVB radiation