InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CSTA

Summary

InnateDB Protein

IDBP-52478.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CSTA

Protein Name

cystatin A (stefin A)

Synonyms

AREI; STF1; STFA;

Species

Homo sapiens

Ensembl Protein

ENSP00000264474

InnateDB Gene

IDBG-52476 (CSTA)

Protein Structure

UniProt Annotation

Function

This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis. {ECO:0000269PubMed:21944047}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:21944047}.

Disease Associations

Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like (AREI) [MIM:607936]: A form of congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. AREI presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes. {ECO:0000269PubMed:21944047}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the skin throughout the epidermis. {ECO:0000269PubMed:21944047}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0004869	cysteine-type endopeptidase inhibitor activity
GO:0005198	structural molecule activity
GO:0030674	protein binding, bridging

Biological Process

GO:0010466	negative regulation of peptidase activity
GO:0010951	negative regulation of endopeptidase activity
GO:0016337	single organismal cell-cell adhesion
GO:0018149	peptide cross-linking
GO:0030216	keratinocyte differentiation
GO:0045861	negative regulation of proteolysis