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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTSA Gene

protein-coding   GIFtS: 64
GCID: GC20P044519

Cathepsin A

(Previous name: protective protein for beta-galactosidase (galactosialidosis))
(Previous symbols: GSL, PPGB)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cathepsin A1 2 3     Protective Protein Cathepsin A2 3
PPGB1 2 3 5     PPCA2 3
Carboxypeptidase C1 2 3     EC 3.4.16.53 8
GSL1 2 5     GLB22 5
Carboxypeptidase Y-Like Kininase1 2     NGBE2 5
carboxypeptidase-L1 2     Protective Protein For Beta-Galactosidase (Galactosialidosis)1
deamidase1 2     Beta-Galactosidase 22
Lysosomal Carboxypeptidase A1 2     Beta-Galactosidase Protective Protein2
Lysosomal Protective Protein1 2     Protective Protein For Beta-Galactosidase3
Urinary Kininase1 2     EC 3.4.168
Carboxypeptidase L2 3     

External Ids:    HGNC: 92511   Entrez Gene: 54762   Ensembl: ENSG000000646017   OMIM: 6131115   UniProtKB: P106193   

Export aliases for CTSA gene to outside databases

Previous GC identifers: GC20P043953 GC20P041261


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Sphingolipid metabolism and Immune System. 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: PPGB_HUMAN, P10619
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

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 (Cathepsin A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTSA gene promoter:
         PPAR-alpha   TBP   Pax-5   Nkx2-5   Tal-1beta   GATA-2   YY1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSA promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.1   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

CTSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTSA gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044519:  view genomic region     (about GC identifiers)

Start:
44,518,783 bp from pter      End:
44,527,459 bp from pter
Size:
8,677 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619 (See protein sequence)
Recommended Name: Lysosomal protective protein precursor  
Size: 480 amino acids; 54466 Da
Subunit: Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked
Subcellular location: Lysosome
Sequence caution: Sequence=CAI20248.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for CTSA:
1IVY (3D)        3BP4 (3D)        3BP7 (3D)        3BXN (3D)        4AZ0 (3D)        4AZ3 (3D)    
Secondary accessions: B2R798 Q561W6 Q5JZH1 Q96KJ2 Q9BR08 Q9BW68

Explore the universe of human proteins at neXtProt for CTSA: NX_P10619

Explore proteomics data for CTSA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10619

  • 4/5 DME Specific Peptides for CTSA (P10619) (see all 5)
     TGESYAG  GGPGCSS  YIPTLAV  ESPAGVG 

    CTSA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CTSA Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000299.2  NP_001121167.1  NP_001161066.1  

    ENSEMBL proteins: 
     ENSP00000476235   ENSP00000361562   ENSP00000475827   ENSP00000346952   ENSP00000191018  
     ENSP00000475524   ENSP00000361537   ENSP00000408533  
    Reactome Protein details: P10619
    Human Recombinant Protein Products for CTSA: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CTSA
    OriGene Protein Over-expression Lysate for CTSA
    OriGene MassSpec for CTSA 
    OriGene Custom Protein Services for CTSA
    GenScript Custom Purified and Recombinant Proteins Services for CTSA
    Novus Biologicals CTSA Protein
    Novus Biologicals CTSA Lysates
    Sino Biological Recombinant Protein for CTSA
    Sino Biological Cell Lysate for CTSA 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTSA 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome NAS3136930
    GO:0005783endoplasmic reticulum TAS1387645

    CTSA for ontologies           About GeneDecksing



    CTSA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
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    GenScript Custom Superior Antibodies Services for CTSA
    Novus Biologicals CTSA Antibodies
    Abcam antibodies for CTSA
    Cloud-Clone Corp. Antibodies for CTSA 
    ThermoFisher Antibody for CTSA
    LSBio Antibodies in human, mouse, rat for CTSA 

    Assay Products for CTSA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CTSA
    R&D Systems Proteome Profiler Antibody Arrays for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
    GenScript Custom Assay Services for CTSA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CTSA 
    Cloud-Clone Corp. CLIAs for CTSA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CTS: Cathepsins

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cathepsin A 
    Serine-type carboxypeptidases

    2 InterPro protein domains:
     IPR018202 Peptidase_S10_AS
     IPR001563 Peptidase_S10

    Graphical View of Domain Structure for InterPro Entry P10619

    ProtoNet protein and cluster: P10619

    1 Blocks protein domain: IPB001563 Serine carboxypeptidase (S10)

    UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619
    Similarity: Belongs to the peptidase S10 family


    CTSA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPGB_HUMAN, P10619
    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
    Catalytic activity: Release of a C-terminal amino acid with broad specificity

         Enzyme Numbers (IUBMB): EC 3.4.16.51 2 EC 3.4.162

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity TAS2244901
    GO:0004185serine-type carboxypeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0008047enzyme activator activity TAS3107551
         
    CTSA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CTSA:
     Increased G1 DNA content  Synthetic lethal with c-Myc af 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ctsa):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  renal/urinary system  reproductive system  respiratory system 

    CTSA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ctsatm1Adz for CTSA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CTSA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CTSA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTSA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTSA 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSA
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSA (see all 31):
    hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-185* hsa-miR-148b hsa-miR-106a hsa-miR-302e hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidCTSA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CTSA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTSA
    Sirion Biotech Customized adenovirus for overexpression of CTSA

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CTSA (see all 17)
    OriGene ORF clones in mouse, rat for CTSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTSA (NM_000308)
    Sino Biological Human cDNA Clone for CTSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSA
    Sirion Biotech Customized lentivirus for stable overexpression of CTSA 
                         Customized lentivirus expression plasmids for stable overexpression of CTSA 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CTSA
    Search LifeMap BioReagents cell lines for CTSA
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CTSA About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Renin-angiotensin system
    Renin-angiotensin system0.43
    5MHC class II antigen presentation
    MHC class II antigen presentation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/7        Reactome Pathways for CTSA (see all 7)
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Adaptive Immune System
    Immune System


    2         Kegg Pathways  (Kegg details for CTSA):
        Lysosome
    Renin-angiotensin system


    CTSA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/40 Interacting proteins for CTSA (P106193 ENSP000003615624) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227129Q995193, ENSP000004089574I2D: score=4 STRING: ENSP00000408957
    NEU1Q995193, ENSP000003647824I2D: score=4 STRING: ENSP00000364782
    ENSG00000184494Q995193I2D: score=4 
    ENSG00000223957Q995193I2D: score=4 
    ENSG00000227315Q995193I2D: score=4 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006886intracellular protein transport TAS1387645
    GO:0043085positive regulation of catalytic activity TAS3107551

    CTSA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CTSA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CTSA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CalpeptinCalpain and cathepsin L inhibitor[117591-20-5]
    N-Acetyl-L-leucyl-L-leucyl-L-methionalCathepsin inhibitor[136632-32-1]
    E 64dCathepsin inhibitor; interferes with autolysosomal digestion[88321-09-9]
    L 006235Potent cathepsin K inhibitor[294623-49-7]
    SID 26681509Cathepsin L inhibitor[958772-66-2]

    8 Novoseek inferred chemical compound relationships for CTSA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ppca 96.3 96 10982818 (8), 9501080 (7), 19666471 (6), 9736781 (5) (see all 15)
    ebelactone b 86.8 4 14737963 (4)
    ninhydrin 73.3 3 9379666 (1), 10526437 (1), 10526436 (1)
    clasto-lactacystinbeta-lactone 70.5 1 16870514 (1)
    chymostatin 70.2 1 16995740 (1)
    lactacystin 64 7 10856705 (2), 9175783 (1)
    serine 56.5 24 18430788 (2), 8312369 (1), 12505983 (1), 9425240 (1) (see all 16)
    mannose 6-phosphate 45.4 2 14687610 (1)

    Search CenterWatch for drugs/clinical trials and news about CTSA / PPGB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CTSA gene (3 alternative transcripts): 
    NM_000308.2  NM_001127695.1  NM_001167594.1  

    Unigene Cluster for CTSA:

    Cathepsin A
    Hs.609336  [show with all ESTs]
    Unigene Representative Sequence: AK172808
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000606788 ENST00000372484 ENST00000606394 ENST00000354880(uc002xqh.3 uc002xqj.4 uc010zxi.2 uc002xqi.3)
    ENST00000607841 ENST00000606066 ENST00000191018 ENST00000607814 ENST00000607212
    ENST00000607482 ENST00000372459 ENST00000485627 ENST00000606782 ENST00000419493
    ENST00000493522 ENST00000480961 ENST00000484855 ENST00000607187
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSA
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSA (see all 31):
    hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-185* hsa-miR-148b hsa-miR-106a hsa-miR-302e hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidCTSA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CTSA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSA
    Clone
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    OriGene clones in human, mouse for CTSA (see all 17)
    OriGene ORF clones in mouse, rat for CTSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTSA (NM_000308)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSA
    Sirion Biotech Customized lentivirus for stable overexpression of CTSA 
                         Customized lentivirus expression plasmids for stable overexpression of CTSA 
    Primer
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    OriGene qPCR primer pairs and template standards for CTSA
    OriGene qSTAR qPCR primer pairs in human, mouse for CTSA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTSA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSA

    Additional mRNA sequence: 

    AB209705.2 AF086236.1 AJ295985.1 AK054821.1 AK097786.1 AK172808.1 AK304536.1 AK307701.1 
    AK312898.1 BC000597.2 BC074737.2 BC093009.1 BC105935.1 BC107485.1 M22960.1 NR_074073.1 

    24/67 DOTS entries (see all 67):

    DT.95269605  DT.91961729  DT.92466615  DT.100691619  DT.100691662  DT.95132974  DT.100039502  DT.92466574 
    DT.120817194  DT.100691691  DT.100841836  DT.95351001  DT.40212852  DT.120817249  DT.100691652  DT.100691689 
    DT.100691624  DT.120817704  DT.95089035  DT.120817900  DT.102842129  DT.120817781  DT.100039501  DT.120817333 

    24/913 AceView cDNA sequences (see all 913):

    BQ711219 CA429525 CR596957 AI300100 CF527810 BE304641 BM789935 AL522271 
    CB150370 BQ186462 AI589920 AA534375 BE676715 AI752716 CB216521 CR618673 
    AA360895 BF724943 CB160994 BI012582 BM834883 BM759247 H39955 AA330700 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CTSA (see all 10)    About this scheme

    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:              -     -     -     -                             -                                                                                             


    ECgene alternative splicing isoforms for CTSA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTSA expression in normal human tissues (normalized intensities)      CTSA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CTSA Expression
    About this image


    CTSA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/39 selected tissues (see all 39) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   

    See CTSA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTSA

    SOURCE GeneReport for Unigene cluster: Hs.609336
        SABiosciences Expression via Pathway-Focused PCR Arrays including CTSA: 
              Polycomb & Trithorax Target Genes in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSA gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsa1 , 5 cathepsin A1, 5 86.18(n)1
    87.8(a)1
      2 (85.27 cM)5
    190251  NM_008906.31  NP_032932.21 
     1648328735 
    chicken
    (Gallus gallus)
    Aves CTSA1 cathepsin A 69.44(n)
    66.67(a)
      428163  NM_001031491.1  NP_001026662.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTSA6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL344146.1(2027-19145)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.18272 Xenopus laevis transcribed sequence with weak similarity more 80.31(n)    CF282647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658022 hypothetical protein MGC65802 74.52(n)   393522  BC052133.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F13D12.61 Protein F13D12.6 49.5(n)
    44.11(a)
      174802  NM_064106.4  NP_496507.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YBR139W)4
    YBR139W1
    Putative serine type carboxypeptidase with a role in more4
    hypothetical protein1
    43.7(n)1
    38.07(a)1
      2(515664-517190)4
    8524361, 4  NP_009697.31  NP_009697.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons scpl201 carboxypeptidase C 46.56(n)
    40.58(a)
      826903  NM_117360.7  NP_193027.5 
    rice
    (Oryza sativa)
    Liliopsida Os.84112 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.98(n)    AK068732.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSA gene
    CPVL2  
    2 SIMAP similar genes for CTSA using alignment to 4 protein entries:     PPGB_HUMAN (see all proteins):
    PPGB    CPVL

    CTSA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/367 SNPs in CTSA are shown (see all 367)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630214
    Galactosialidosis (GSL)4--see VAR_0630212 M T mis40--------
    VAR_0013884
    Galactosialidosis (GSL)4--see VAR_0013882 Y N mis40--------
    VAR_0013904
    Galactosialidosis (GSL)4--see VAR_0013902 F V mis40--------
    VAR_0013894
    Galactosialidosis (GSL)4--see VAR_0013892 Y C mis40--------
    VAR_0630224
    Galactosialidosis (GSL)4--see VAR_0630222 G S mis40--------
    VAR_0630234
    Galactosialidosis (GSL)4--see VAR_0630232 K E mis40--------
    VAR_0013874
    Galactosialidosis (GSL)4--see VAR_0013872 S L mis40--------
    VAR_0630184
    Galactosialidosis (GSL)4--see VAR_0630182 S Y mis40--------
    VAR_0630204
    Galactosialidosis (GSL)4--see VAR_0630202 L P mis40--------
    VAR_0013854
    Galactosialidosis (GSL)4--see VAR_0013852 Q R mis40--------

    HapMap Linkage Disequilibrium report for CTSA (44518783 - 44527459 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CTSA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833991CNV Loss17160897
    nsv833990CNV Loss17160897
    nsv517296CNV Loss19592680
    nsv482069CNV Gain20164927


    Human Gene Mutation Database (HGMD): CTSA
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CTSA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613111   
    OMIM disorders: 256540  
    UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for CTSA (see all 32):    About MalaCards
    galactosialidosis    ring chromosome 20    ring chromosomes    pelvic inflammatory disease
    angiokeratoma    primary angle-closure glaucoma    osteoarthritis    gangliosidosis
    lysosomal storage disease    retinal detachment    fabry disease    rheumatoid arthritis
    atherosclerosis    glaucoma    skeletal dysplasias    myoclonus
    laryngeal carcinoma    arthritis    metabolic disorders    cataract

    2 diseases from the University of Copenhagen DISEASES database for CTSA:
    Lysosomal storage disease     Primary angle-closure glaucoma

    CTSA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred disease relationships for CTSA gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sialidosis 93.9 9 9501080 (1), 11550799 (1), 16538002 (1), 10571006 (1) (see all 6)
    glaucoma absolute 81.8 7 10526437 (4), 10526436 (3)
    lysosomal storage diseases 76.8 10 18396002 (1), 19097920 (1), 19666471 (1), 12649068 (1) (see all 7)
    morquios syndrome 70.5 2 11550799 (1)
    enzyme deficiency 39.1 1 10571006 (1)
    metabolic disorder 33.9 2 11550799 (1), 11076198 (1)
    aqueous humor 23.9 7 10526436 (5), 9104505 (2)
    neurodegenerative diseases 5.76 2 9843984 (1)
    genetic disorder 4.32 3 8985184 (1)
    glaucoma 0 2 9104505 (2)


    Export disorders for CTSA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CTSA gene, integrated from 9 sources (see all 145):
    (articles sorted by number of sources associating them with CTSA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (PubMed id 10944848)1, 2, 9 Takiguchi K....Sakuraba H. (2000)
    2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PubMed id 8968752)1, 2, 9 Zhou X.Y....d'Azzo A. (1996)
    3. A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'. (PubMed id 1694176)1, 2, 9 Jackman H.L.... Erdoes E.G. (1990)
    4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism. (PubMed id 8591035)1, 2 Rudenko G.... Hol W.G.J. (1995)
    10. Protective protein gene mutations in galactosialidosis. (PubMed id 8514852)1, 2 Shimmoto M.... Suzuki Y. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5476 HGNC: 9251 AceView: PPGB Ensembl:ENSG00000064601 euGenes: HUgn5476
    ECgene: CTSA Kegg: 5476 H-InvDB: CTSA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTSA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CTSA gene:
    Search GeneIP for patents involving CTSA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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