InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CTSA

Summary

InnateDB Protein

IDBP-78427.6

Last Modified

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

Gene Symbol

CTSA

Protein Name

cathepsin A

Synonyms

GLB2; GSL; NGBE; PPCA; PPGB;

Species

Homo sapiens

Ensembl Protein

ENSP00000191018

InnateDB Gene

IDBG-78417 (CTSA)

Protein Structure

UniProt Annotation

Function

Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins. {ECO:0000269PubMed:1907282}.

Subcellular Localization

Lysosome.

Disease Associations

Galactosialidosis (GSL) [MIM:256540]: A lysosomal storage disease associated with a combined deficiency of beta- galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. {ECO:0000269PubMed:10944848, ECO:0000269PubMed:1756715, ECO:0000269PubMed:8514852, ECO:0000269PubMed:8968752}. 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.
They are also associated with 1 interaction(s) predicted by orthology.

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

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004180	carboxypeptidase activity
GO:0004185	serine-type carboxypeptidase activity
GO:0008047	enzyme activator activity

Biological Process

GO:0006508	proteolysis
GO:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0006886	intracellular protein transport
GO:0043085	positive regulation of catalytic activity
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005634	nucleus
GO:0005764	lysosome
GO:0005783	endoplasmic reticulum
GO:0016020	membrane
GO:0043202	lysosomal lumen
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome