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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 Protective Protein 2 3
  • Lysosomal Carboxypeptidase A 2 3
  • Carboxypeptidase-L 2 3
  • Urinary Kininase 2 3
  • EC 4 56
  • 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
  • Beta-Galactosidase 2 3
  • Carboxypeptidase L 4
  • EC 3.4.16 56
  • 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 of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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

Additional gene information for CTSA Gene

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

Genomics for CTSA Gene

GeneHancer (GH) Regulatory Elements for CTSA Gene

Promoters and enhancers for CTSA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I045889 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.9 1872 4.5 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NEURL2 CTSA ENSG00000271984 NCOA5 WFDC3 CD40 RPS2P7 TP53RK PLTP
GH20I045933 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.6 +46.2 46186 6.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PCIF1 SNX21 NCOA5 TP53RK SPATA25 ZNF335 PLTP SLC35C2 WFDC3 ENSG00000271984
GH20I045817 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 -72.2 -72223 1.5 HDAC1 KLF17 ZEB1 ZNF335 TCF12 ZNF121 GLIS2 ZNF213 ZNF366 SCRT2 WFDC3 PLTP NCOA5 ACOT8 ZSWIM3 DNTTIP1 ZSWIM1 NEURL2 CTSA SPATA25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTSA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTSA gene promoter:

Genomic Locations for CTSA Gene

Genomic Locations for CTSA Gene
8,677 bases
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:
    Recommended name:
    Lysosomal protective protein
    Protein Accession:
    Secondary Accessions:
    • B2R798
    • Q561W6
    • Q5JZH1
    • Q96KJ2
    • Q9BR08
    • Q9BW68

    Protein attributes for CTSA Gene

    480 amino acids
    Molecular mass:
    54466 Da
    Quaternary structure:
    • Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked.
    • 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


neXtProt entry for CTSA Gene

Selected DME Specific Peptides for CTSA Gene


Post-translational modifications for CTSA Gene

  • Ubiquitination at Lys429
  • Glycosylation at Asn145 and Asn333
  • 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S10 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

Phenotypes From GWAS Catalog 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 IMP,IEA 12505983
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0008047 enzyme activator activity TAS 3107551
GO:0008233 peptidase activity IEA --
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

CRISPR Products

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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSA gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
lysosome 5
plasma membrane 2
cytosol 2
golgi apparatus 2
endosome 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome NAS 3136930
GO:0005765 lysosomal membrane IEA --
GO:0005783 endoplasmic reticulum TAS 1387645
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

Gene Ontology (GO) - Biological Process for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 12505983
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006886 intracellular protein transport TAS 1387645
GO:0031647 regulation of protein stability IMP 12505983
GO:0043085 positive regulation of catalytic activity IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sofosbuvir Approved Pharma Enzyme, substrate 290
boceprevir Approved, Withdrawn Pharma 0
Telaprevir Approved, Withdrawn Pharma 0
E-64-c Pharma Inhibitor of cysteine proteinases 0
Odanacatib (MK-0822) Pharma Cathepsin K,potent and selective 0

(5) Additional Compounds for CTSA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CTSA Gene

Compound Action Cas Number
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

(2) ApexBio Compounds for CTSA Gene

Compound Action Cas Number
E-64-c Inhibitor of cysteine proteinases 76684-89-4
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
genes like me logo Genes that share compounds with CTSA: view

Drug Products

Transcripts for CTSA Gene

Unigene Clusters for CTSA Gene

Cathepsin A:
Representative Sequences:

CRISPR Products

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: - - -
SP4: - -
SP5: - - - - -
SP8: -

Relevant External Links for CTSA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTSA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CTSA Gene

Protein tissue co-expression partners for CTSA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTSA Gene:


SOURCE GeneReport for Unigene cluster for CTSA Gene:


Evidence on tissue expression from TISSUES for CTSA Gene

  • Nervous system(5)
  • Skin(4.9)
  • Blood(4.7)
  • Liver(4.7)
  • Intestine(4.5)
  • Kidney(4.2)
  • Lung(4.1)
  • Pancreas(3.3)
  • Stomach(3.3)
  • Heart(2.9)
  • Muscle(2.8)
  • Spleen(2.7)
  • Eye(2.4)
  • Gall bladder(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSA Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CTSA: view

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
(Pan troglodytes)
Mammalia CTSA 33
  • 98.98 (n)
(Canis familiaris)
Mammalia CTSA 33 34
  • 88.89 (n)
(Bos Taurus)
Mammalia CTSA 33 34
  • 87.92 (n)
(Mus musculus)
Mammalia Ctsa 33 16 34
  • 86.18 (n)
(Rattus norvegicus)
Mammalia Ctsa 33
  • 85.58 (n)
(Monodelphis domestica)
Mammalia CTSA 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia CTSA 34
  • 43 (a)
(Gallus gallus)
Aves CTSA 33 34
  • 70.04 (n)
(Anolis carolinensis)
Reptilia CTSA 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsa 33
  • 65.02 (n)
Str.6361 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1827 33
(Danio rerio)
Actinopterygii ctsa 33 34
  • 66.07 (n)
CTSA (1 of 2) 34
  • 65 (a)
zgc65802 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2348 33
(Caenorhabditis elegans)
Secernentea F13D12.6 33 34
  • 50 (n)
F41C3.5 34
  • 39 (a)
K10B2.2 34
  • 39 (a)
Y40D12A.2 34
  • 30 (a)
F32A5.3 34
  • 17 (a)
C08H9.1 34
  • 15 (a)
Y16B4A.2 34
  • 9 (a)
K10C2.1 34
  • 8 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL328C 33
  • 49.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRC1 33 34
  • 47.58 (n)
-- 34
  • 26 (a)
-- 36
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09977g 33
  • 46.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons scpl20 33
  • 47.2 (n)
(Oryza sativa)
Liliopsida Os04g0321700 33
  • 48.52 (n)
Os.8411 33
bread mold
(Neurospora crassa)
Ascomycetes NCU00477 33
  • 48.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cpy1 33
  • 46.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4677 33
Species where no ortholog for CTSA was found in the sources mined by GeneCards:
  • 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

Gene Tree for CTSA (if available)
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 Variation AA Info Type
rs116893852 likely-benign, Combined deficiency of sialidase AND beta galactosidase 45,891,283(+) G/A/T 5_prime_UTR_variant, non_coding_transcript_variant
rs117529875 likely-benign, Combined deficiency of sialidase AND beta galactosidase 45,891,103(+) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs137854540 pathogenic, Galactosialidosis, late infantile, Galactosialidosis (GSL) [MIM:256540] 45,898,068(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137854541 pathogenic, Combined deficiency of sialidase AND beta galactosidase, Galactosialidosis (GSL) [MIM:256540] 45,891,714(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137854542 pathogenic, Combined deficiency of sialidase AND beta galactosidase, Galactosialidosis (GSL) [MIM:256540] 45,891,990(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv482069 CNV gain 20164927
nsv517296 CNV loss 19592680
nsv833990 CNV loss 17160897
nsv833991 CNV loss 17160897

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)

Additional Variant Information for CTSA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTSA Gene

MalaCards: The human disease database

(29) MalaCards diseases for CTSA Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • gsl
  • mucolipidosis i
ring chromosome 20
  • chromosome 20 ring
acute gonococcal salpingitis
  • gonococcal salpingitis, specified as acute
mucopolysaccharidosis iv
  • chondroosteodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search CTSA in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for 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 (Journal of human genetics 2000) 3 4 22 58
  2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PMID: 8968752) Zhou XY … d'Azzo A (Human molecular genetics 1996) 3 4 22 58
  3. A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal "protective protein". (PMID: 1694176) Jackman HL … Erdös EG (The Journal of biological chemistry 1990) 3 4 22 58
  4. Cathepsin A is expressed in primary human antigen-presenting cells. (PMID: 19954752) Reich M … Burster T (Immunology letters 2010) 3 22 58
  5. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. (PMID: 19666471) Bonten EJ … d'Azzo A (The Journal of biological chemistry 2009) 3 22 58

Products for CTSA Gene

Sources for CTSA Gene

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