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Aliases for CTSA Gene

Aliases for CTSA Gene

  • Cathepsin A 2 3 4 5
  • Carboxypeptidase C 2 3 4
  • Carboxypeptidase Y-Like Kininase 2 3
  • Protective Protein Cathepsin A 3 4
  • Lysosomal Carboxypeptidase A 2 3
  • Carboxypeptidase-L 2 3
  • Urinary Kininase 2 3
  • EC 3.4.16.5 4 63
  • Deamidase 2 3
  • PPGB 3 4
  • PPCA 3 4
  • Protective Protein For Beta-Galactosidase (Galactosialidosis) 2
  • Protective Protein For Beta-Galactosidase 4
  • Beta-Galactosidase Protective Protein 3
  • Lysosomal Protective Protein 2
  • Beta-Galactosidase 2 3
  • Carboxypeptidase L 4
  • EC 3.4.16 63
  • GLB2 3
  • NGBE 3
  • GSL 3

External Ids for CTSA Gene

Previous HGNC Symbols for CTSA Gene

  • GSL
  • PPGB

Previous GeneCards Identifiers for CTSA Gene

  • GC20P043953
  • GC20P044519
  • GC20P041261

Summaries for CTSA Gene

Entrez Gene Summary for CTSA Gene

  • 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 comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSA Gene

CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include galactosialidosis and glycoproteinosis. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include enzyme activator activity and serine-type carboxypeptidase activity.

UniProtKB/Swiss-Prot for CTSA Gene

  • 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. This protein is also a carboxypeptidase and can deamidate tachykinins.

Tocris Summary for CTSA Gene

  • Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z).

Gene Wiki entry for CTSA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSA Gene

Genomics for CTSA Gene

Regulatory Elements for CTSA Gene

Promoters for CTSA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTSA on UCSC Golden Path with GeneCards custom track

Genomic Location for CTSA Gene

Chromosome:
20
Start:
45,890,144 bp from pter
End:
45,898,820 bp from pter
Size:
8,677 bases
Orientation:
Plus strand

Genomic View for CTSA Gene

Genes around CTSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSA Gene

Proteins for CTSA Gene

  • Protein details for CTSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10619-PPGB_HUMAN
    Recommended name:
    Lysosomal protective protein
    Protein Accession:
    P10619
    Secondary Accessions:
    • B2R798
    • Q561W6
    • Q5JZH1
    • Q96KJ2
    • Q9BR08
    • Q9BW68

    Protein attributes for CTSA Gene

    Size:
    480 amino acids
    Molecular mass:
    54466 Da
    Quaternary structure:
    • Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked.
    SequenceCaution:
    • Sequence=CAI20248.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTSA Gene

    Alternative splice isoforms for CTSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTSA Gene

Proteomics data for CTSA Gene at MOPED

Selected DME Specific Peptides for CTSA Gene

Post-translational modifications for CTSA Gene

  • Ubiquitination at Lys 429
  • Glycosylation at Asn 145 and Asn 333
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)

Domains & Families for CTSA Gene

Gene Families for CTSA Gene

Suggested Antigen Peptide Sequences for CTSA Gene

Graphical View of Domain Structure for InterPro Entry

P10619

UniProtKB/Swiss-Prot:

PPGB_HUMAN :
  • Belongs to the peptidase S10 family.
Family:
  • Belongs to the peptidase S10 family.
genes like me logo Genes that share domains with CTSA: view

Function for CTSA Gene

Molecular function for CTSA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Release of a C-terminal amino acid with broad specificity.
UniProtKB/Swiss-Prot 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. This protein is also a carboxypeptidase and can deamidate tachykinins.

Enzyme Numbers (IUBMB) for CTSA Gene

Gene Ontology (GO) - Molecular Function for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0008047 enzyme activator activity TAS 3107551
genes like me logo Genes that share ontologies with CTSA: view
genes like me logo Genes that share phenotypes with CTSA: view

Human Phenotype Ontology for CTSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSA Gene

MGI Knock Outs for CTSA:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSA

No data available for Transcription Factor Targets and HOMER Transcription for CTSA Gene

Localization for CTSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTSA Gene COMPARTMENTS Subcellular localization image for CTSA gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 5
nucleus 5
vacuole 5
cytosol 2
endosome 2
golgi apparatus 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome NAS 3136930
GO:0070062 extracellular exosome IDA 19056867
GO:0098575 colocalizes_with lumenal side of lysosomal membrane TAS 20176123
genes like me logo Genes that share ontologies with CTSA: view

Pathways & Interactions for CTSA Gene

genes like me logo Genes that share pathways with CTSA: view

Pathways by source for CTSA Gene

Gene Ontology (GO) - Biological Process for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0051603 proteolysis involved in cellular protein catabolic process IBA --
genes like me logo Genes that share ontologies with CTSA: view

No data available for SIGNOR curated interactions for CTSA Gene

Drugs & Compounds for CTSA Gene

(9) Drugs for CTSA Gene - From: Novoseek, ApexBio, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
boceprevir Approved Pharma 0
Telaprevir Approved Pharma 0
E-64-c Pharma Inhibitor of cysteine proteinases 0
Odanacatib (MK-0822) Pharma Cathepsin K,potent and selective 0
COMPOUND 8A (PMID 22861813) Pharma 0

(10) Additional Compounds for CTSA Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
L 006235
294623-49-7
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
SID 26681509
958772-66-2
genes like me logo Genes that share compounds with CTSA: view

Transcripts for CTSA Gene

Unigene Clusters for CTSA Gene

Cathepsin A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTSA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - - - - -
SP2: - - -
SP3:
SP4: - -
SP5: - - - - -
SP6:
SP7:
SP8: -
SP9:
SP10:

Relevant External Links for CTSA Gene

GeneLoc Exon Structure for
CTSA
ECgene alternative splicing isoforms for
CTSA

Expression for CTSA Gene

mRNA expression in normal human tissues for CTSA Gene

mRNA differential expression in normal tissues according to GTEx for CTSA Gene

This gene is overexpressed in Adrenal Gland (x5.5) and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for CTSA Gene

This gene is overexpressed in Fetal gut (9.8), Amniocyte (9.4), Urine (7.5), and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTSA Gene



SOURCE GeneReport for Unigene cluster for CTSA Gene Hs.609336

genes like me logo Genes that share expression patterns with CTSA: view

Protein tissue co-expression partners for CTSA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CTSA Gene

Orthologs for CTSA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTSA 35
  • 98.98 (n)
  • 98.73 (a)
cow
(Bos Taurus)
Mammalia CTSA 36
  • 87 (a)
OneToOne
CTSA 35
  • 87.92 (n)
  • 89.74 (a)
dog
(Canis familiaris)
Mammalia CTSA 35
  • 88.89 (n)
  • 89.76 (a)
CTSA 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctsa 16
Ctsa 36
  • 87 (a)
OneToOne
Ctsa 35
  • 86.18 (n)
  • 87.6 (a)
oppossum
(Monodelphis domestica)
Mammalia CTSA 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTSA 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctsa 35
  • 85.58 (n)
  • 85.58 (a)
chicken
(Gallus gallus)
Aves CTSA 35
  • 70.04 (n)
  • 67.84 (a)
CTSA 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSA 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1827 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsa 35
  • 65.02 (n)
  • 64.13 (a)
Str.6361 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2348 35
zebrafish
(Danio rerio)
Actinopterygii ctsa 35
  • 66.07 (n)
  • 65.62 (a)
zgc65802 35
ctsa 36
  • 60 (a)
OneToMany
CTSA (1 of 2) 36
  • 65 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C08H9.1 36
  • 15 (a)
OneToMany
F13D12.6 36
  • 40 (a)
OneToMany
F32A5.3 36
  • 17 (a)
OneToMany
F41C3.5 36
  • 39 (a)
OneToMany
K10B2.2 36
  • 39 (a)
OneToMany
K10C2.1 36
  • 8 (a)
OneToMany
Y16B4A.2 36
  • 9 (a)
OneToMany
Y40D12A.2 36
  • 30 (a)
OneToMany
F13D12.6 35
  • 50 (n)
  • 44.23 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL328C 35
  • 49.25 (n)
  • 41.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 26 (a)
ManyToMany
PRC1 36
  • 25 (a)
ManyToMany
-- 38
PRC1 35
  • 47.58 (n)
  • 37.73 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09977g 35
  • 46.64 (n)
  • 41.95 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons scpl20 35
  • 47.2 (n)
  • 40.92 (a)
rice
(Oryza sativa)
Liliopsida Os.8411 35
Os04g0321700 35
  • 48.52 (n)
  • 39.95 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00477 35
  • 48.83 (n)
  • 36.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cpy1 35
  • 46.16 (n)
  • 36.65 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4677 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for CTSA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSA Gene

ENSEMBL:
Gene Tree for CTSA (if available)
TreeFam:
Gene Tree for CTSA (if available)

Paralogs for CTSA Gene

(2) SIMAP similar genes for CTSA Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CTSA: view

No data available for Paralogs for CTSA Gene

Variants for CTSA Gene

Sequence variations from dbSNP and Humsavar for CTSA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_001385 Galactosialidosis (GSL)
VAR_001386 Galactosialidosis (GSL)
VAR_001387 Galactosialidosis (GSL)
VAR_001388 Galactosialidosis (GSL)
VAR_001389 Galactosialidosis (GSL)

Structural Variations from Database of Genomic Variants (DGV) for CTSA Gene

Variant ID Type Subtype PubMed ID
nsv833990 CNV Loss 17160897
nsv517296 CNV Loss 19592680
nsv833991 CNV Loss 17160897
nsv482069 CNV Gain 20164927

Variation tolerance for CTSA Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTSA Gene

HapMap Linkage Disequilibrium report
CTSA
Human Gene Mutation Database (HGMD)
CTSA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSA Gene

Disorders for CTSA Gene

MalaCards: The human disease database

(31) MalaCards diseases for CTSA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galactosialidosis
  • cathepsin a
glycoproteinosis
  • mucolipidoses
ring chromosome 20
  • chromosome 20 ring
acute gonococcal salpingitis
  • gonococcal salpingitis, specified as acute
myoclonic cerebellar dyssynergia
  • dyssynergia cerebellaris myoclonica
- elite association - COSMIC cancer census association via MalaCards
Search CTSA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPGB_HUMAN
  • 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, mental retardation, 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 mutations affecting the gene represented in this entry.

Relevant External Links for CTSA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTSA
genes like me logo Genes that share disorders with CTSA: view

No data available for Genatlas for CTSA Gene

Publications for CTSA Gene

  1. Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (PMID: 10944848) Takiguchi K. … Sakuraba H. (J. Hum. Genet. 2000) 3 4 23 67
  2. Cathepsin A is expressed in primary human antigen-presenting cells. (PMID: 19954752) Reich M. … Burster T. (Immunol. Lett. 2010) 3 23
  3. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. (PMID: 19666471) Bonten E.J. … d'Azzo A. (J. Biol. Chem. 2009) 3 23
  4. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. (PMID: 16538002) Tatano Y. … Itoh K. (J. Med. Invest. 2006) 3 23
  5. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. (PMID: 12505983) Cuervo A.M. … Dice J.F. (EMBO J. 2003) 3 23

Products for CTSA Gene

Sources for CTSA Gene

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