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FLASH GENE

Symbol

CSTA

contributors: mct - updated : 25-10-2011

HGNC name	cystatin A (stefin A)
HGNC id	2481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EXFI2 exfoliative ichthyosis 2
Location	3q21      Physical location : 122.044.010 - 122.060.813
Synonym name	cystatin A, cysteine proteinase inhibitor, type 2 family
	keratolin
Synonym symbol(s)	STF1, STFA

DNA

TYPE	functioning gene
STRUCTURE	16.81 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_005213 3 - 838 - 98 - 2001 11451947

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Digestive mouth tongue     highly Reproductive male system prostate     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic granulocyte Skin/Tegument cornified cell Skin/Tegument keratinocyte Homo sapiens

cell lineage
cell lines
fluid/secretion	detected in sweat

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two intramolecular disulfide bonds

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

cystatin type I family, superfamily of protease inhibitors

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	one of the precursor proteins of cornified cell envelope in keratinocytes and playing a role in epidermal development and maintenance
	cysteine cathepsin inhibitor, that may be a marker of increased cathepsin activity in metastasesn
	has antiapoptotic properties linked with neoplastic changes in squamous cell epithelium
	role for cystatin A in the normal physiology of the skin within the lower levels of the epidermis
	key role in basal to suprabasal keratinocyte adhesion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L
	component of the cornified cell envelope in the upper layers of the skin

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein

cell & other

REGULATION

inhibited by

inhibited via the ras/Raf - 1/MEKK1/ERK pathway

ASSOCIATED DISORDERS

corresponding disease(s)

EXFI2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in psoriatic plaques

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS