Cathepsin A

Cathepsin A
PDB rendering based on 1ivy.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1IVY​, 3BP4​, 3BP7​, 3BXN​, 4AZ0​, 4AZ3​, 4CI9​, 4CIA​, 4CIB​, 4MWS​, 4MWT​
Identifiers
Symbols	CTSA ; GLB2; GSL; NGBE; PPCA; PPGB
External IDs	OMIM: 613111 MGI: 97748 HomoloGene: 80163 ChEMBL: 6115 GeneCards: CTSA Gene
EC number	3.4.16.5
Gene ontology Molecular function • carboxypeptidase activity • serine-type carboxypeptidase activity • enzyme activator activity Cellular component • nucleoplasm • lysosome • endoplasmic reticulum • membrane • lysosomal lumen • intracellular membrane-bounded organelle • extracellular exosome Biological process • dolichol-linked oligosaccharide biosynthetic process • proteolysis • sphingolipid metabolic process • glycosphingolipid metabolic process • intracellular protein transport • protein N-linked glycosylation via asparagine • positive regulation of catalytic activity • post-translational protein modification • cellular protein metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5476	19025
Ensembl	ENSG00000064601	ENSMUSG00000017760
UniProt	P10619	P16675
RefSeq (mRNA)	NM_000308	NM_001038492
RefSeq (protein)	NP_000299	NP_001033581
Location (UCSC)	Chr 20: 45.89 – 45.9 Mb	Chr 2: 164.83 – 164.84 Mb
PubMed search

Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.^[1]

Function

This gene encodes a glycoprotein that associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high-molecular-weight multimers. The formation of this complex provides a protective role for stability and activity. It is protective for β-galactosidase and neuraminidase.^[2]

Clinical significance

Deficiencies in this gene are linked to multiple forms of galactosialidosis.^[1]

Interactions

Cathepsin A has been shown to interact with NEU1.^[3]

References

1. "Entrez Gene: CTSA cathepsin A".
2. Mitchell, Richard Sheppard; Kumar, Vinay; Robbins, Stanley L.; Abbas, Abul K.; Fausto, Nelson (2007). "Table 7-6". Robbins basic pathology (8th ed.). Saunders/Elsevier. ISBN 1-4160-2973-7.
3. van der Spoel, A; Bonten E; d'Azzo A (Mar 1998). "Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A". EMBO J. (ENGLAND) 17 (6): 1588–97. doi:10.1093/emboj/17.6.1588. ISSN 0261-4189. PMC 1170506. PMID 9501080.

Further reading

• Morreau H, Galjart NJ, Willemsen R; et al. (1992). "Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum.". J. Biol. Chem. 267 (25): 17949–56. PMID 1387645.
• Halal F, Chitayat D, Parikh H; et al. (1992). "Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.". Am. J. Med. Genet. 43 (3): 576–9. doi:10.1002/ajmg.1320430314. PMID 1605251.
• Jackman HL, Tan FL, Tamei H; et al. (1990). "A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal "protective protein".". J. Biol. Chem. 265 (19): 11265–72. PMID 1694176.
• Zhou XY, Galjart NJ, Willemsen R; et al. (1992). "A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.". EMBO J. 10 (13): 4041–8. PMC 453152. PMID 1756715.
• Galjart NJ, Morreau H, Willemsen R; et al. (1991). "Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.". J. Biol. Chem. 266 (22): 14754–62. PMID 1907282.
• Yoshida K, Oshima A, Shimmoto M; et al. (1991). "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.". Am. J. Hum. Genet. 49 (2): 435–42. PMC 1683306. PMID 1907800.
• Wiegant J, Galjart NJ, Raap AK, d'Azzo A (1991). "The gene encoding human protective protein (PPGB) is on chromosome 20.". Genomics 10 (2): 345–9. doi:10.1016/0888-7543(91)90318-9. PMID 2071143.
• Strisciuglio P, Sly WS, Dodson WE; et al. (1991). "Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.". Am. J. Med. Genet. 37 (4): 573–7. doi:10.1002/ajmg.1320370431. PMID 2148053.
• Kase R, Itoh K, Takiyama N; et al. (1990). "Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.". Biochem. Biophys. Res. Commun. 172 (3): 1175–9. doi:10.1016/0006-291X(90)91572-A. PMID 2244901.
• Willemsen R, Hoogeveen AT, Sips HJ; et al. (1986). "Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.". Eur. J. Cell Biol. 40 (1): 9–15. PMID 3084261.
• Verheijen FW, Palmeri S, Galjaard H (1987). "Purification and partial characterization of lysosomal neuraminidase from human placenta.". Eur. J. Biochem. 162 (1): 63–7. doi:10.1111/j.1432-1033.1987.tb10542.x. PMID 3102233.
• Nanba E, Tsuji A, Omura K, Suzuki Y (1987). "Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts.". Biochem. Biophys. Res. Commun. 144 (1): 138–42. doi:10.1016/S0006-291X(87)80486-2. PMID 3107551.
• Galjart NJ, Gillemans N, Harris A; et al. (1988). "Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.". Cell 54 (6): 755–64. doi:10.1016/S0092-8674(88)90999-3. PMID 3136930.
• Chitayat D, Applegarth DA, Lewis J; et al. (1989). "Juvenile galactosialidosis in a white male: a new variant.". Am. J. Med. Genet. 31 (4): 887–901. doi:10.1002/ajmg.1320310423. PMID 3149149.
• Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985). "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.". Eur. J. Biochem. 149 (2): 315–21. doi:10.1111/j.1432-1033.1985.tb08928.x. PMID 3922758.
• van der Horst GT, Kleijer WJ, Hoogeveen AT; et al. (1984). "Morquio B syndrome: a primary defect in beta-galactosidase.". Am. J. Med. Genet. 16 (2): 261–75. doi:10.1002/ajmg.1320160215. PMID 6418007.
• Maire I, Nivelon-Chevallier AR (1982). "Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.". J. Inherit. Metab. Dis. 4 (4): 221–3. doi:10.1007/BF02263656. PMID 6796775.
• Pshezhetsky AV, Potier M (1994). "Direct affinity purification and supramolecular organization of human lysosomal cathepsin A.". Arch. Biochem. Biophys. 313 (1): 64–70. doi:10.1006/abbi.1994.1359. PMID 8053688.
• Ishii N, Oshima A, Sakuraba H; et al. (1994). "Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.". Pediatr. Neurol. 10 (4): 317–9. doi:10.1016/0887-8994(94)90129-5. PMID 8068159.
• Chakraborty S, Rafi MA, Wenger DA (1994). "Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.". Am. J. Hum. Genet. 54 (6): 1004–13. PMC 1918177. PMID 8198123.

External links

• Cathepsin A at the US National Library of Medicine Medical Subject Headings (MeSH)