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CTSA Gene

protein-coding   GIFtS: 64
GCID: GC20P044519

Cathepsin A

(Previous name: protective protein for beta-galactosidase (galactosialidosis))
(Previous symbols: GSL, PPGB)
  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ring chromosome 20, and galactosialidosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   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 Chromatin IP Primers for CTSA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys429
  • Glycosylation2 at Asn145, Asn333
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTSA (P10619) (see all 5)
     TGESYAG  GGPGCSS  YIPTLAV  ESPAGVG 


    See CTSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CTSA Human Recombinant Protein Products:

    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

    CTSA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTSA
    R&D Systems Antibodies for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
    OriGene Antibodies for CTSA
    OriGene Custom Antibody Services for CTSA
    Novus Biologicals CTSA Antibodies
    Search for Antibodies for CTSA at Abcam
    Cloud-Clone Corp. Antibodies for CTSA
    ThermoFisher Antibody for CTSA
    LSBio Antibodies in human, mouse, rat for CTSA

    CTSA Assay Products:

    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body 
     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: Let us create your new Knockout/Knockin mouse model for CTSA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target CTSA:
    hsa-mir-130a-3p (MIRT045850), hsa-mir-503-5p (MIRT041135), hsa-mir-17-5p (MIRT050910), hsa-mir-155-5p (MIRT020678), hsa-mir-20a-5p (MIRT050564), hsa-mir-1296-5p (MIRT036107), hsa-let-7e-5p (MIRT051616)

    Block miRNA regulation of human, mouse, rat CTSA using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for CTSA
    Predesigned siRNA for gene silencing in human, mouse, rat CTSA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTSA

    Clone
    Products:
         
    OriGene clones in human, mouse for CTSA (see all 19)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CTSA
    Browse ESI BIO Cell Lines and PureStem Progenitors for CTSA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PPGB_HUMAN, P10619: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum4
    nucleus4
    extracellular2
    golgi apparatus2
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    cytosol1
    endosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

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

    CTSA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CTSA About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Renin-angiotensin system0.37
    5MHC class II antigen presentation
    MHC class II antigen presentation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for CTSA
        Sialic acid metabolism
    Glycosphingolipid metabolism
    MHC class II antigen presentation


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


    CTSA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTSA: 
              Polycomb & Trithorax Target Genes in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CTSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CTSA (P106193 ENSP000003615624) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    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): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for CTSA (see all 12)     About this table
    CompoundAction CAS #
    CA 074Inhibitor of cathepsin B[134448-10-5]
    CA-074 Meirreversible inhibitor of intracellular cathepsin B[147859-80-1]
    CalpeptinPotent cathepsin L inhibitor[117591-20-5]
    Cathepsin G Inhibitor Ipotent, selective, reversible, competitive, non-peptide inhibitor of cathepsin G[429676-93-7]
    Cathepsin S inhibitorA slow, tight-binding reversible inhibitor of recombinant cathepsin S[1373215-15-6]
    E 64dthiol protease inhibitor1[88321-09-9]
    E-64Irriversible cysteine protease inhibitor[66701-25-5]
    E-64-cinhibits cathepsin B, cathepsin H, and cathepsin L[76684-89-4]
    L 006235Potent, reversible cathepsin K inhibitor[294623-49-7]
    MDL 28170Potent, selective inhibitor of calpain and cathepsin B[88191-84-8]

    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)



    CTSA for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CTSA using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for CTSA
    Predesigned siRNA for gene silencing in human, mouse, rat CTSA
    Clone
    Products:
         
    OriGene clones in human, mouse for CTSA (see all 19)
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CTSA
    OriGene qSTAR qPCR primer pairs in human, mouse for CTSA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTSA
      QuantiTect SYBR Green Assays in human, mouse, rat CTSA
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 913):

    CB306574 H16007 BX334456 CR609128 BE869323 BM852440 BU188062 BF724943 
    BG739910 BQ722761 BM834883 BE315112 AA074536 BQ272469 BM707659 CB125530 
    AA330700 BU167941 AI453597 AL552954 BU183512 AA551806 AA373555 AA360895 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CTSA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Eye (Sensory Organs)
             Lens
    CTSA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTSA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.609336
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTSA: 
              Polycomb & Trithorax Target Genes in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CTSA
    OriGene qSTAR qPCR primer pairs in human, mouse for CTSA
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    QuantiFast Probe-based Assays in human, mouse, rat CTSA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSA

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSA gene from Selected species (see all 24)    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
    87.6(a)1
      2 (85.27 cM)5
    190251  NM_008906.41  NP_032932.21 
     1648328735 
    chicken
    (Gallus gallus)
    Aves CTSA1 cathepsin A 70.04(n)
    67.84(a)
      428163  NM_001031491.1  NP_001026662.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTSA6
    cathepsin A
    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 F13D12.6 50(n)
    44.23(a)
      174802  NM_064106.5  NP_496507.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YBR139W)4
    PRC11
    Putative serine type carboxypeptidase with a role in more4
    PRC11
    47.58(n)1
    37.73(a)1
      2(515664-517190)4
    8553431  NP_014026.11  8524364 
     NP_009697.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons scpl201 scpl20 47.2(n)
    40.92(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)
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    Paralogs for CTSA gene
    CPVL2  
    2 SIMAP similar genes for CTSA using alignment to 7 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTSA (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTSA
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for CTSA (see all 36):    
    About MalaCards
    ring chromosome 20    galactosialidosis    pelvic inflammatory disease    angiokeratoma
    osteoarthritis    primary angle-closure glaucoma    gangliosidosis    retinal detachment
    lysosomal storage disease    fabry disease    atherosclerosis    rheumatoid arthritis
    glaucoma    skeletal dysplasias    arthritis    myoclonus
    laryngeal carcinoma    cataract    laryngitis    abdominal aortic aneurysm

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

    CTSA for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for CTSA gene, integrated from 10 sources (see all 148):
    (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. (J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (J. Biol. Chem. 1990)
    4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (Mol. Cell. Proteomics 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Nat. Biotechnol. 2003)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 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. (Structure 1995)
    10. Protective protein gene mutations in galactosialidosis. (PubMed id 8514852)1, 2 Shimmoto M.... Suzuki Y. (J. Clin. Invest. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5476 HGNC: 9251 AceView: PPGB Ensembl:ENSG00000064601 euGenes: HUgn5476
    ECgene: CTSA Kegg: 5476 H-InvDB: CTSA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CTSA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CTSA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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