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FLASH GENE

Symbol

CSTB

contributors: mct - updated : 10-09-2010

HGNC name	cystatin B (stefin B)
HGNC id	2482

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two intramolecular disulfide bonds
	a cystatin domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Cstb

Homologene

FAMILY

cystatin type 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	interaction between cystatin B and nucleosomes, specifically with histones H2A.Z, H2B, and H3 (Ceru 2010)

basic FUNCTION	cysteine proteinase inhibitor playing a role in protecting against the proteases leaking from lysosomes
	anti-protease, that aggregates within cells, aggregation increasing upon protein overexpression or proteasome inhibition (Ceru 2010)
	could play an important role in regulating the proteolytic activity of cathepsin L in the nucleus, protecting substrates such as transcription factors from its proteolytic processing (Ceru 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	tightly binding and inhibitor of cathepsins H, L, B
	APP/Abeta-binding protein in vitro and likely in cells (Skerget 2010)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPM1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in lung tumors

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be useful as a novel predictive biomarker in transitional cell carcinoma of the bladder (Feldman 2009)
Therapy target

ANIMAL & CELL MODELS

mice lacking cystatin B develop myoclonic seizures and ataxia