CTSA
entrez
5476
canonical
uniprot
P10619
canonical
ensembl
ENSG00000064601
resolver
ensp
ENSP00000191018
resolver
ensp
ENSP00000346952
resolver
ensp
ENSP00000361562
resolver
ensp
ENSP00000493613
resolver
ensp
ENSP00000504790
resolver
enst
ENST00000354880
resolver
enst
ENST00000372484
resolver
enst
ENST00000677394
resolver
genesymbol
CTSA
resolver
genesymbol_syn
PPGB
resolver
hgnc
HGNC:9251
resolver
uniprot
B2R798
resolver
uniprot
B4E324
resolver
uniprot
Q561W6
resolver
uniprot
Q5JZH1
resolver
uniprot
Q96KJ2
resolver
uniprot
Q9BR08
resolver
uniprot
Q9BW68
resolver
uniprot
X6R5C5
resolver
uniprot
X6R8A1
resolver
uniprot_entry
B4E324_HUMAN
resolver
uniprot_entry
PPGB_HUMAN
resolver
uniprot_entry
X6R5C5_HUMAN
resolver
uniprot_entry
X6R8A1_HUMAN
resolver
uniprot_sec
B2R798
resolver
uniprot_sec
Q561W6
resolver
uniprot_sec
Q5JZH1
resolver
uniprot_sec
Q96KJ2
resolver
uniprot_sec
Q9BR08
resolver
uniprot_sec
Q9BW68
resolver
amino_acid_sequence
MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY
uniprot
proteins
disease_involvement
DISEASE: Galactosialidosis (GSL) [MIM:256540]: A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual disability, neurologic deterioration, absence of visceromegaly, and long survival. {ECO:0000269|PubMed:10944848, ECO:0000269|PubMed:1756715, ECO:0000269|PubMed:8514852, ECO:0000269|PubMed:8968752}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brain small vessel disease 6 with leukoencephalopathy (BSVD6) [MIM:621394]: An autosomal dominant form of brain small vessel disease, a cerebrovascular disorder with variable features reflecting the location and severity of the vascular defect. BSVD6 features include neurologic manifestations such as migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline. Additional features may include hypertension, vertigo, sensorineural hearing loss, facial palsy, dysphagia, and depression. A hallmark of the disease is leukoencephalopathy, which commonly involves the brainstem and subcortical white matter. {ECO:0000269|PubMed:27664989, ECO:0000269|PubMed:35904593}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.16.5
uniprot
proteins
function
FUNCTION: Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity (PubMed:1907282). Also functions as an activator of the sialidase NEU1 (PubMed:37205763). This protein is also a carboxypeptidase and can deamidate tachykinins (PubMed:1694176, PubMed:1756715, PubMed:1907282). {ECO:0000269|PubMed:1694176, ECO:0000269|PubMed:1756715, ECO:0000269|PubMed:1907282, ECO:0000269|PubMed:37205763}.
uniprot
proteins
mass_dalton
54466
uniprot
proteins
mutagenesis
MUTAGEN 178; /note="S->A: Loss of carboxypeptidase activity."; /evidence="ECO:0000269|PubMed:1907282"; MUTAGEN 224; /note="Y->C: No effect on homodimerization but the formation of an artifactual disulfide bond does not allow the dissociation of the homodimer. No effect on interaction with NEU1. No effect on activation of NEU1."; /evidence="ECO:0000269|PubMed:37205763"; MUTAGEN 457; /note="H->Q: Loss of carboxypeptidase activity."; /evidence="ECO:0000269|PubMed:1907282
uniprot
proteins
protein_family
Peptidase S10 family
uniprot
proteins
pubmed
10944848
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
1694176
uniprot
proteins
pubmed
1756715
uniprot
proteins
pubmed
1907282
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27664989
uniprot
proteins
pubmed
3136930
uniprot
proteins
pubmed
35904593
uniprot
proteins
pubmed
37205763
uniprot
proteins
pubmed
8514852
uniprot
proteins
pubmed
8591035
uniprot
proteins
pubmed
8968752
uniprot
proteins
sequence_length
480
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:1756715}.
uniprot
proteins