Cathepsin A

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Cathepsin A
Protein CTSA PDB 1ivy.png
PDB rendering based on 1ivy.
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM613111 MGI97748 HomoloGene80163 IUPHAR: 1581 ChEMBL: 6115 GeneCards: CTSA Gene
EC number
RNA expression pattern
PBB GE CTSA 200661 at tn.png
More reference expression data
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:
44.52 – 44.53 Mb
Chr 2:
164.83 – 164.84 Mb
PubMed search [1] [2]

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]


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[edit]

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


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


  1. ^ a b "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[edit]

  • 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[edit]