InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CSTB

Summary

InnateDB Protein

IDBP-4890.5

Last Modified

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

Gene Symbol

CSTB

Protein Name

cystatin B (stefin B)

Synonyms

CST6; EPM1; EPM1A; PME; STFB; ULD;

Species

Homo sapiens

Ensembl Protein

ENSP00000291568

InnateDB Gene

IDBG-4888 (CSTB)

Protein Structure

UniProt Annotation

Function

This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:11139332}. Nucleus {ECO:0000269PubMed:11139332}.

Disease Associations

Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. {ECO:0000269PubMed:9012407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0004866	endopeptidase inhibitor activity
GO:0004869	cysteine-type endopeptidase inhibitor activity
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0008344	adult locomotory behavior
GO:0010466	negative regulation of peptidase activity
GO:0010951	negative regulation of endopeptidase activity
GO:0042981	regulation of apoptotic process
GO:0045861	negative regulation of proteolysis