Cathepsin A

CTSA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1IVY, 3BP4, 3BP7, 3BXN, 4AZ0, 4AZ3, 4CI9, 4CIA, 4CIB, 4MWS, 4MWT
Identifiers
Aliases	CTSA, GLB2, GSL, NGBE, PPCA, PPGB, cathepsin A
External IDs	OMIM: 613111; MGI: 97748; HomoloGene: 80163; GeneCards: CTSA; OMA:CTSA - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	45,898,949 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	164,682,952 bp
RNA expression pattern
	Top expressed in
	right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; mucosa of transverse colon; ; stromal cell of endometrium; ; monocyte; ; rectum; ; human kidney; ; gallbladder;
	Top expressed in
	stroma of bone marrow; ; decidua; ; calvaria; ; lip; ; right kidney; ; yolk sac; ; vestibular sensory epithelium; ; proximal tubule; ; skin of external ear; ; uterus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptidase activity; carboxypeptidase activity; enzyme activator activity; hydrolase activity; exo-alpha-sialidase activity; serine-type carboxypeptidase activity;
Cellular component	membrane; intracellular membrane-bounded organelle; nucleoplasm; lysosomal lumen; endoplasmic reticulum; lysosome; lumenal side of lysosomal membrane; extracellular exosome; extracellular region; azurophil granule lumen;
Biological process	regulation of protein stability; glycosphingolipid metabolic process; proteolysis; regulation of chaperone-mediated autophagy; proteolysis involved in cellular protein catabolic process; intracellular protein transport; positive regulation of catalytic activity; neutrophil degranulation; negative regulation of chaperone-mediated autophagy;
	Sources:Amigo / QuickGO
Orthologs
	5476
	19025
	ENSG00000064601
	ENSMUSG00000017760
	P10619
	P16675
	NM_001167594; NM_000308; NM_001127695
	NM_001038492; NM_008906
	NP_000299; NP_001121167; NP_001161066
	NP_001033581; NP_032932
	Wikidata
View/Edit Human	View/Edit Mouse

Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.^[5]

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.^[6]

Clinical significance

Deficiencies in this gene are linked to multiple forms of galactosialidosis.^[5]

Interactions

Cathepsin A has been shown to interact with NEU1.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000064601 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017760 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: CTSA cathepsin A".
^ 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 978-1-4160-2973-1.
^ 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. 17 (6). ENGLAND: 1588–97. doi:10.1093/emboj/17.6.1588. ISSN 0261-4189. PMC 1170506. PMID 9501080.

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. doi:10.1016/S0021-9258(19)37135-2. 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. doi:10.1016/S0021-9258(19)38586-2. 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. doi:10.1002/j.1460-2075.1991.tb04980.x. 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. doi:10.1016/S0021-9258(18)98751-X. 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. S2CID 21504892.
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. S2CID 38676707.
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.