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Aliases for CTSA Gene

Aliases for CTSA Gene

  • Cathepsin A 2 3 4
  • Carboxypeptidase C 2 3 4
  • PPGB 3 4 6
  • Carboxypeptidase Y-Like Kininase 2 3
  • Protective Protein Cathepsin A 3 4
  • Lysosomal Protective Protein 2 3
  • Lysosomal Carboxypeptidase A 2 3
  • Carboxypeptidase-L 2 3
  • Carboxypeptidase L 3 4
  • Urinary Kininase 2 3
  • EC 3.4.16.5 4 63
  • Deamidase 2 3
  • GLB2 3 6
  • NGBE 3 6
  • PPCA 3 4
  • GSL 3 6
  • Protective Protein For Beta-Galactosidase (Galactosialidosis) 2
  • Protective Protein For Beta-Galactosidase 4
  • Beta-Galactosidase Protective Protein 3
  • Beta-Galactosidase 2 3
  • EC 3.4.16 63

External Ids for CTSA Gene

Previous Symbols for CTSA Gene

  • GSL
  • PPGB

Summaries for CTSA Gene

Entrez Gene Summary for CTSA Gene

  • This gene encodes a glycoprotein which 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. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CTSA Gene

CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include galactosialidosis and ring chromosome 20. Among its related pathways are Class I MHC mediated antigen processing and presentation and Sphingolipid metabolism. GO annotations related to this gene include enzyme activator activity and serine-type carboxypeptidase activity. An important paralog of this gene is CPVL.

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). Most cathepsins are endopeptidases, with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH. The main function of cathepsins is protein recycling within the lysosome but they are also known to be involved in a range of other physiological, as well as pathological processes, including maturation of the MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis, rheumatoid arthritis, osteoarthritis and atherosclerosis.

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

Genomic Location for CTSA Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSA Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys429
  • Glycosylation at Asn145 and Asn333

Other Protein References for CTSA Gene

Domains for CTSA Gene

Gene Families for CTSA Gene

HGNC:
  • CTS :Cathepsins
IUPHAR :

Protein Domains for CTSA Gene

Suggested Antigen Peptide Sequences for CTSA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10619

UniProtKB/Swiss-Prot:

PPGB_HUMAN
Family:
  • Belongs to the peptidase S10 family.:
    • P10619
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:0004180 carboxypeptidase activity TAS 2244901
GO:0004185 serine-type carboxypeptidase activity IEA --
GO:0005515 protein binding --
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

Animal Models for CTSA Gene

MGI Knock Outs for CTSA:

No data available for Transcription Factor Targeting 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
lysosome 5
vacuole 5
endoplasmic reticulum 4
nucleus 4
extracellular 2
golgi apparatus 2
mitochondrion 2
plasma membrane 2
cytoskeleton 1
cytosol 1
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion --
GO:0005764 lysosome NAS 3136930
GO:0005783 endoplasmic reticulum TAS 1387645
genes like me logo Genes that share ontologies with CTSA: view

Pathways 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:0006508 proteolysis IEA --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006886 intracellular protein transport TAS 1387645
genes like me logo Genes that share ontologies with CTSA: view

Compounds for CTSA Gene

(12) ApexBio Compounds for CTSA Gene

Compound Action Cas Number
CA 074 Inhibitor of cathepsin B. [134448-10-5]
CA-074 Me irreversible inhibitor of intracellular cathepsin B. [147859-80-1]
Calpeptin Potent cathepsin L inhibitor [117591-20-5]
Cathepsin G Inhibitor I potent, selective, reversible, competitive, non-peptide inhibitor of cathepsin G. [429676-93-7]
Cathepsin S inhibitor A slow, tight-binding reversible inhibitor of recombinant cathepsin S. [1373215-15-6]
E 64d thiol protease inhibitor1 [88321-09-9]
E-64 Irriversible cysteine protease inhibitor [66701-25-5]
E-64-c inhibits cathepsin B, cathepsin H, and cathepsin L [76684-89-4]
L 006235 Potent, reversible cathepsin K inhibitor. [294623-49-7]
MDL 28170 Potent, selective inhibitor of calpain and cathepsin B. [88191-84-8]
Odanacatib (MK-0822) inhibitor of cathepsin K. [603139-19-1]
SID 26681509 Potent and reversible human cathepsin L inhibitor. [958772-66-2]

(5) Tocris Compounds for CTSA Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor [117591-20-5]
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion [88321-09-9]
L 006235 Potent cathepsin K inhibitor [294623-49-7]
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor [136632-32-1]
SID 26681509 Cathepsin L inhibitor [958772-66-2]

(8) Novoseek inferred chemical compound relationships for CTSA Gene

Compound -log(P) Hits PubMed IDs
ppca 96.3 58
ebelactone b 86.8 4
ninhydrin 73.3 3
clasto-lactacystinbeta-lactone 70.5 1
chymostatin 70.2 1
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (5.5) and Whole Blood (4.5).

Integrated Proteomics: protein expression 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 expressions with CTSA: view

No data available for 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 35
  • 87.92 (n)
  • 89.74 (a)
CTSA 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTSA 35
  • 88.89 (n)
  • 89.76 (a)
CTSA 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctsa 35
  • 86.18 (n)
  • 87.6 (a)
Ctsa 16
Ctsa 36
  • 87 (a)
OneToOne
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)
ctsa 36
  • 60 (a)
OneToMany
CTSA (1 of 2) 36
  • 65 (a)
OneToMany
zgc65802 35
worm
(Caenorhabditis elegans)
Secernentea C08H9.1 36
  • 15 (a)
OneToMany
F13D12.6 35
  • 50 (n)
  • 44.23 (a)
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
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
-- 38
PRC1 35
  • 47.58 (n)
  • 37.73 (a)
PRC1 36
  • 25 (a)
ManyToMany
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

Paralogs for CTSA Gene

Selected SIMAP similar genes for CTSA Gene using alignment to 7 proteins:

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

Variants for CTSA Gene

Sequence variations from dbSNP and Humsavar for CTSA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs25649 -- 45,898,103(+) CTCAC(A/G)ATCAA synonymous-codon, reference
rs396980 -- 45,897,847(+) GCTGT(A/G)GAGGA intron-variant
rs742034 -- 45,893,366(-) AGACC(C/T)GAGAT intron-variant
rs1804212 -- 45,898,088(+) TCCCA(A/C)ATCGC missense, reference
rs2075961 -- 45,894,908(-) GCCCT(C/T)GCACA intron-variant

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

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

(1) OMIM Diseases for CTSA Gene (613111)

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.

(2) University of Copenhagen DISEASES for CTSA Gene

(14) Novoseek inferred disease relationships for CTSA Gene

Disease -log(P) Hits PubMed IDs
sialidosis 93.9 6
glaucoma absolute 81.8 7
lysosomal storage diseases 76.8 7
morquios syndrome 70.5 1
enzyme deficiency 39.1 1
genes like me logo Genes that share disorders with CTSA: view

Publications for CTSA Gene

  1. A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'. (PMID: 1694176) Jackman H.L. … Erdoes E.G. (J. Biol. Chem. 1990) 3 4 23
  2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PMID: 8968752) Zhou X.Y. … d'Azzo A. (Hum. Mol. Genet. 1996) 3 4 23
  3. 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
  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. Direct affinity purification and supramolecular organization of human lysosomal cathepsin A. (PMID: 8053688) Pshezhetsky A.V. … Potier M. (Arch. Biochem. Biophys. 1994) 3 23

Products for CTSA Gene

Sources for CTSA Gene

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