CTSA (cathepsin A)

2007-02-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
GLB2,GSL,NGBE,PPCA,PPGB
FUSION GENES

Other Information

Locus ID:

NCBI: 5476
MIM: 613111
HGNC: 9251
Ensembl: ENSG00000064601

Variants:

dbSNP: 5476
ClinVar: 5476
TCGA: ENSG00000064601
COSMIC: CTSA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064601ENST00000191018P10619
ENSG00000064601ENST00000354880X6R5C5
ENSG00000064601ENST00000372459P10619
ENSG00000064601ENST00000372484X6R8A1
ENSG00000064601ENST00000419493Q5JZH0
ENSG00000064601ENST00000606394U3KQF1
ENSG00000064601ENST00000606788U3KQU6
ENSG00000064601ENST00000607482U3KQ41
ENSG00000064601ENST00000646241P10619

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
Renin-angiotensin systemKEGGko04614
Renin-angiotensin systemKEGGhsa04614
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
196664712009Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.15
239155612013Galactosialidosis: review and analysis of CTSA gene mutations.11
247691972014Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.10
262595532016Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.5
157859342005Increased activity of lysosomal enzymes in the peritoneal fluid of patients with gynecologic cancers and pelvic inflammatory disease.4
126490682003New mutations in two Dutch patients with early infantile galactosialidosis.3
165380022006Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.3
199547522010Cathepsin A is expressed in primary human antigen-presenting cells.3
234956882013Inhibition of CatA: an emerging strategy for the treatment of heart failure.3
250757482014A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.3

Citation

Dessen P

CTSA (cathepsin A)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43911/ctsa