InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CST3

Summary

InnateDB Protein

IDBP-233125.6

Last Modified

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

Gene Symbol

CST3

Protein Name

cystatin C

Synonyms

ARMD11;

Species

Homo sapiens

Ensembl Protein

ENSP00000381446

InnateDB Gene

IDBG-60095 (CST3)

Protein Structure

UniProt Annotation

Function

As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.

Subcellular Localization

Secreted {ECO:0000269PubMed:20189825}.

Disease Associations

Amyloidosis 6 (AMYL6) [MIM:105150]: A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. {ECO:0000269PubMed:1352269, ECO:0000269PubMed:2541223}. Note=The disease is caused by mutations affecting the gene represented in this entry.Macular degeneration, age-related, 11 (ARMD11) [MIM:611953]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:11815350}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, brain, thymus, and ovary and the lowest in the submandibular gland. {ECO:0000269PubMed:15274116, ECO:0000269PubMed:20189825}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001540	beta-amyloid binding
GO:0002020	protease binding
GO:0004866	endopeptidase inhibitor activity
GO:0004869	cysteine-type endopeptidase inhibitor activity
GO:0005515	protein binding

Biological Process

GO:0006952	defense response
GO:0010466	negative regulation of peptidase activity
GO:0010711	negative regulation of collagen catabolic process
GO:0010716	negative regulation of extracellular matrix disassembly
GO:0010951	negative regulation of endopeptidase activity
GO:0034103	regulation of tissue remodeling
GO:0043206	extracellular fibril organization
GO:0045861	negative regulation of proteolysis
GO:0060311	negative regulation of elastin catabolic process
GO:0060313	negative regulation of blood vessel remodeling