Cathepsin A

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Cathepsin A
PDB rendering based on 1ivy.
Available structures: 1ivy
Identifiers
Symbol(s) CTSA; GLB2; GSL; NGBE; PPCA; PPGB
External IDs OMIM: 256540 MGI: 97748 HomoloGene: 80163
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5476 19025
Ensembl ENSG00000064601 ENSMUSG00000017760
Uniprot P10619 Q544R6
Refseq NM_000308 (mRNA)
NP_000299 (protein)		 NM_001038492 (mRNA)
NP_001033581 (protein)
Location Chr 20: 43.95 - 43.96 Mb Chr 2: 164.52 - 164.53 Mb
Pubmed search [1] [2]

Cathepsin A, also known as CTSA, is a human gene.[1]

This gene encodes a glycoprotein which 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. Deficiencies in this gene are linked to multiple forms of galactosialidosis.[1]

Cathepsin A is a enzyme which is classified both as a cathepsin and a carboxypeptidase.

[edit] References

  1. ^ a b Entrez Gene: CTSA cathepsin A.

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 8198123. 

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Hydrolase: proteases (EC 3.4)
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