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FLASH GENE

Symbol

CTSE

contributors: mct - updated : 01-06-2007

HGNC name	cathepsin E
HGNC id	2530

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

isoforms

Precursor

HOMOLOGY

intraspecies	paralog to cathepsins
	homolog to highly homologous to the lysosomal aspartic protease cathepsin D

Homologene

FAMILY	eukaryotic aspartyl protease family
	pepsin superfamily

CATEGORY

enzyme , immunity/defense

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	endolysosomal aspartic proteinase predominantly expressed in cells of the immune system, having an important role in immune responses
	major intracellular aspartic protease which is predominantly present in the cells of immune system and is frequently implicated in antigen processing via the MHC class II pathway
	may play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain
	playing an important role for preventing the accumulation of the lysosomal membrane sialoglycoproteins
	playing an important role for exogenous antigen processing via the major histocompatibility complex class II presenting system
	specifically induces tumor growth arrest and apoptosis in prostate carcinoma cell lines without affecting normal cells (Zaidi 2008)
	important in the processing of tetanus toxin C-fragment in primary B cells

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

digestion

PATHWAY

metabolism

signaling

a component

homodimer, disulfide-linked

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

cell-specific transcription factors GATA1 and PU1

inhibited by

YY1 factor

Other

catalytic activity, propeptides, and N-glycosylation of this protein are all essential for its processing, maturation, and trafficking

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function inducing a lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins (LAMP1, LAMP2, SCARB2) and the elevation of lysosomal pH in macrophages tumoral     --over   in gastric and cervical adenocarcinomas, in lung adenocarcinomas and squamous cell carcinomas, and in pancreatic ductal adenocarcinomas (Zaidi 2008)

Susceptibility

Variant & Polymorphism

Candidate gene	potential marker for the inception and progression of intestinal cancers
Marker
Therapy target

ANIMAL & CELL MODELS