• Gene id: 5476

Gene Summary

• Gene Symbol: CTSA   Gene   UCSC   Ensembl
• Aliases: GLB2, GSL, NGBE, PPCA, PPGB
• Gene name: cathepsin A
• Alternate names: lysosomal protective protein, beta-galactosidase 2, beta-galactosidase protective protein, carboxypeptidase C, carboxypeptidase Y-like kininase, carboxypeptidase-L, deamidase, lysosomal carboxypeptidase A, protective protein cathepsin A, urinary kininase,
• Gene location: 20q13.12 (45890143: 45898819)     Exons: 15     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that c
• OMIM: 613111

SNPs

rs397515414

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.71137272T>A
NC_000016.9   g.71171175T>A
NG_033116.2   g.98451A>T
NM_017558.5   c.922A>T
NM_017558.4   c.922A>T
NM_001270974.2   c.922A>T
NM_001270974.1   c.922A>T
NM_001198542.1   c.1003A>T
NM_001198543.1   c.973A>T
XM_006721206.3   c.973A>T
XM_01152314  

rs397515413

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.70988133C>A
NC_000016.9   g.71022036C>A
NG_033116.2   g.247590G>T
NM_001270974.2   c.3985G>T
NM_001270974.1   c.3985G>T
XM_006721206.3   c.4036G>T
XM_011523146.2   c.4168G>T
XM_017023346.2   c.4105G>T
XM_011523151.2   c.4066G>T
XM_011523148.1   c.4087G>

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: P10619  
  • Name: Lysosomal protective protein (EC 3.4.16.5) (Carboxypeptidase C) (Carboxypeptidase L) (Cathepsin A) (Protective protein cathepsin A) (PPCA) (Protective protein for beta galactosidase) [Cleaved into: Lysosomal protective protein 32 kDa chain; Lysosomal prot
  • Length: 480  
  • Mass: 54466
• Sequence:

  MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPEN
  SPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVA
  QSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYH
  GLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQD
  LGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYR
  SMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFL
  TIKGAGHMVPTDKPLAAFTMFSRFLNKQPY

• Structural information:
  • Interpro: IPR029058  IPR001563  IPR033124  IPR018202  
  • Prosite: PS00560 PS00131
  • PDB: 1IVY 3BP4 3BP7 3BXN 4AZ0 4AZ3 4CI9 4CIA 4CIB 4MWS 4MWT
  • PDBsum: 1IVY 3BP4 3BP7 3BXN 4AZ0 4AZ3 4CI9 4CIA 4CIB 4MWS 4MWT
  • STRING: ENSP00000361562
• Other Databases: GeneCards:  CTSA  Malacards:  CTSA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004180	carboxypeptidase activity	TAS	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0006886	intracellular protein transport	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005764	lysosome	NAS	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0004185	serine-type carboxypeptidase activity	IMP	molecular function
GO:1904715	negative regulation of chaperone-mediated autophagy	IGI	biological process
GO:1904714	regulation of chaperone-mediated autophagy	TAS	biological process
GO:0098575	lumenal side of lysosomal membrane	TAS	colocalizes with
GO:0031647	regulation of protein stability	IMP	biological process
GO:0004185	serine-type carboxypeptidase activity	IBA	molecular function
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0004185	serine-type carboxypeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004180	carboxypeptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Glycoproteinoses	KEGG:H00422
Galactosialidosis	KEGG:H00276
Glycoproteinoses	KEGG:H00422
Galactosialidosis	KEGG:H00276
Lysosomal storage disease	PMID:8514852
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)