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

CTSL Gene

protein-coding   GIFtS: 57
GCID: GC09P090352

Cathepsin L

(Previous name: cathepsin L1)
(Previous symbol: CTSL1)
  Search for CTSL
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 L1 2     MEP2 3
CTSL11 2     EC 3.4.22.153 8
Cathepsin L11 2     CATL2
Major Excreted Protein2 3     EC 3.4.228

External Ids:    HGNC: 25371   Entrez Gene: 15142   Ensembl: ENSG000001350477   OMIM: 1168805   UniProtKB: P077113   

Export aliases for CTSL gene to outside databases

Previous GC identifers: GC09P081384 GC09P082193 GC09P083896 GC09P085798 GC09P087570 GC09P089530


(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 CTSL Gene:
The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular
protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major
controlling element of neutrophil elastase activity. The encoded protein has been implicated in several
pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal
tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed
of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively
spliced transcript variants have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for CTSL Gene: 
CTSL (cathepsin L) is a protein-coding gene. Among its related super-pathways are Immune response Bacterial infections in normal airways and Immune response Antigen presentation by MHC class II. An important paralog of this gene is TINAG.

UniProtKB/Swiss-Prot: CATL1_HUMAN, P07711
Function: Important for the overall degradation of proteins in lysosomes

summary for CTSL 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 CTSL (Cathepsin L1) 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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CTSL
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSL promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSL

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


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

Entrez Gene cytogenetic band: 9q21.33   Ensembl cytogenetic band:  9q21.33   HGNC cytogenetic band: 9q21.33

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P090352:  view genomic region     (about GC identifiers)

Start:
90,340,434 bp from pter      End:
90,346,384 bp from pter
Size:
5,951 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: CATL1_HUMAN, P07711 (See protein sequence)
Recommended Name: Cathepsin L1 precursor  
Size: 333 amino acids; 37564 Da
Subunit: Dimer of a heavy and a light chain linked by disulfide bonds
Subcellular location: Lysosome
6/28 PDB 3D structures from and Proteopedia for CTSL (see all 28):
1CJL (3D)        1CS8 (3D)        1ICF (3D)        1MHW (3D)        2NQD (3D)        2VHS (3D)    
Secondary accessions: Q6IAV1 Q96QJ0

Explore the universe of human proteins at neXtProt for CTSL: NX_P07711

Explore proteomics data for CTSL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07711

  • 4/19 DME Specific Peptides for CTSL (P07711) (see all 19)
     QNLVDCS  GCNGGLM  VDWREKG  QGQCGSC 

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

    CTSL Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001244900.1  NP_001244901.1  NP_001244902.1  NP_001903.1  NP_666023.1  

    ENSEMBL proteins: 
     ENSP00000345344   ENSP00000365061   ENSP00000340470  
    Reactome Protein details: P07711
    Human Recombinant Protein Products for CTSL: 
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    Novus Biologicals CTSL Proteins
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for CTSL 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005634nucleus TAS--
    GO:0005764lysosome NAS--
    GO:0036021endolysosome lumen TAS--
    GO:0043202lysosomal lumen TAS--

    CTSL for ontologies           About GeneDecksing



    CTSL Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CTSL


    (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

    5/6 InterPro protein domains (see all 6):
     IPR013128 Peptidase_C1A
     IPR025661 Pept_asp_AS
     IPR000169 Pept_cys_AS
     IPR013201 Prot_inhib_I29
     IPR025660 Pept_his_AS

    Graphical View of Domain Structure for InterPro Entry P07711

    ProtoNet protein and cluster: P07711

    2 Blocks protein domains:
    IPB000668 Papain cysteine protease (C1) family signature
    IPB013201 Proteinase inhibitor I29


    UniProtKB/Swiss-Prot: CATL1_HUMAN, P07711
    Similarity: Belongs to the peptidase C1 family


    CTSL 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: CATL1_HUMAN, P07711
    Function: Important for the overall degradation of proteins in lysosomes
    Catalytic activity: Specificity close to that of papain. As compared to cathepsin B, cathepsin L exhibits higher
    activity toward protein substrates, but has little activity on Z-Arg-Arg-NHMec, and no peptidyl-dipeptidase
    activity

         Genatlas biochemistry entry for CTSL:
    cathepsin L,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation
    during endochondral ossification

         Enzyme Numbers (IUBMB): EC 3.4.22.151 2 EC 3.4.222

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IDA14511383
    GO:0005515protein binding IPI17889653
    GO:0008234cysteine-type peptidase activity IDA8811434
    GO:0042393histone binding IDA--
         
    CTSL for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CTSL:
     Decreased focal adhesion (FA)   Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         15/19 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ctsl) (see all 19):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  other 

    CTSL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CTSL: Ctsltm1Alpk Ctsltm1Cptr

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

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

    miRNA
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    miRTarBase miRNAs that target CTSL:
    hsa-mir-30a (MIRT005214)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSL
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    SwitchGear 3'UTR luciferase reporter plasmidCTSL 3' UTR sequence
    Inhib. RNA
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    (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 CTSL About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    2Immune response Antigen presentation by MHC class II
    Immune response Antigen presentation by MHC class II0.76
    3Allograft rejection
    Antigen processing and presentation0.37
    4Rheumatoid arthritis
    Rheumatoid arthritis
    5Proteoglycans in cancer
    Proteoglycans in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CTSL
        Immune response Antigen presentation by MHC class II


    2 GeneGo (Thomson Reuters) Pathways for CTSL
        Immune response Antigen presentation by MHC class II
    Bacterial infections in CF airways

    5/11        Reactome Pathways for CTSL (see all 11)
        Assembly of collagen fibrils and other multimeric structures
    Toll-Like Receptors Cascades
    Adaptive Immune System
    Collagen formation
    Degradation of collagen


    5         Kegg Pathways  (Kegg details for CTSL):
        Lysosome
    Phagosome
    Antigen processing and presentation
    Proteoglycans in cancer
    Rheumatoid arthritis


    CTSL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CTSL

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

    5/48 Interacting proteins for CTSL (P077111, 2, 3 ENSP000003453444) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEDO755302, 3, ENSP000002633604MINT-8253935 I2D: score=2 STRING: ENSP00000263360
    CRELD2Q6UXH12, 3MINT-8253924 I2D: score=1 
    BAG6P463793I2D: score=1 
    ENSG00000096155P463793I2D: score=1 
    ENSG00000227761P463793I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002250adaptive immune response IEP15196205
    GO:0006508proteolysis IDA--
    GO:0019882antigen processing and presentation TAS15196205
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    CTSL 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

    CTSL for compounds           About GeneDecksing

    EMD Millipore small molecules for CTSL:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CTSL 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]

    10/62 Novoseek inferred chemical compound relationships for CTSL gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 89.7 188 1898042 (3), 9563472 (3), 9816040 (2), 10993910 (2) (see all 99)
    n-(2,4-dinitrophenyl)ethylenediamine 81.6 3 9163334 (1), 10727410 (1), 20302511 (1)
    scca1 70.3 6 10653592 (1), 12743426 (1), 9817977 (1)
    actinidin 66.8 4 8654398 (3), 10380357 (1)
    ca 074 60 2 10600517 (1)
    leupeptin 58.1 7 20355055 (2), 7487106 (1), 2297706 (1), 7840205 (1) (see all 5)
    serine 55.6 21 1551416 (2), 9006092 (1), 10653592 (1), 17631863 (1) (see all 19)
    kininogen 55.3 9 12492488 (3), 8654398 (2), 1466282 (1), 8467916 (1) (see all 6)
    anthranilate 53.9 2 9163334 (1), 10727410 (1)
    matrigel 52.7 3 15621884 (1), 8521613 (1), 12715895 (1)

    Search CenterWatch for drugs/clinical trials and news about CTSL / CATL1

    (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 CTSL gene (5 alternative transcripts): 
    NM_001257971.1  NM_001257972.1  NM_001257973.1  NM_001912.4  NM_145918.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343150(uc004api.3 uc004aph.3 uc010mqh.3 uc004apl.3 uc004apk.3)
    ENST00000340342 ENST00000375894 ENST00000495822 ENST00000342020 ENST00000482054

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    24/688 AceView cDNA sequences (see all 688):

    CR611865 AA969937 CR613528 BF516350 CR620611 CR616495 BX647435 CR620702 
    CR609955 CR601598 CR607586 CA309140 CA309453 CR610633 CA309196 BU170094 
    CR608495 BQ003991 BF726814 BM694686 CA418416 BU678332 CA309460 BQ778383 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CTSL (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a ·
    SP1:                                            -     -     -                       -                                                     -                     
    SP2:                                -     -     -     -     -                       -                                                     -                     
    SP3:                                -     -     -     -     -                       -                                                     -                     
    SP4:                                      -     -     -     -                       -                                                     -                     
    SP5:                                -     -     -     -     -     -     -     -     -     -                                               -                     

    ExUns: 9b ^ 10
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CTSL

    (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

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


    CTSL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Adipose (Muscoskeletal System)
             omental adipose tissue   
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus
     
     Liver (Hepatobiliary System)

    See CTSL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTSL
        SABiosciences Custom PCR Arrays for CTSL
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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 CTSL gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsl5 cathepsin L   --   13 (33.26 cM) 64363214 
    chicken
    (Gallus gallus)
    Aves CTSL26
    cathepsin L1 precursor
    66(a)
    1 → many
    Z(41267479-41272899)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    58(a)
    1 → many
    2(40926589-40945236)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL879746.12   -- 75(n)    AL879746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.265552 Danio rerio cathepsin mRNA, partial cds 76.38(n)    AF498292.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cp13 protein catabolism cathepsin L 54(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea cpl-13 cathepsin-like protease 50(a)
    (best of 2)
      V(16595339-16597937)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G502601 putative cysteine proteinase 54.7(n)
    51.68(a)
      835091  NM_124405.2  NP_568722.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05569001 hypothetical protein 49.73(n)
    44.73(a)
      4346292  NM_001069014.1  NP_001062479.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSL gene
    TINAG2  CTSF2  CTSO2  CTSW2  CTSV2  CTSK2  CTSB2  CTSS2  
    CTSH2  CTSC2  TINAGL12  CTSZ2  
    8 SIMAP similar genes for CTSL using alignment to 1 protein entry:     Q9HBQ7_HUMAN:
    CTSL1    CTSL2    CTSK    CTSS    DKFZp686B24257    CTSH
    CTSF    CTSW

    CTSL for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for CTSL (see all 9)
    PGOHUM00000251240 PGOHUM00000251242 PGOHUM00000251245 PGOHUM00000238490 PGOHUM00000238554


    (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

    10/212 SNPs in CTSL are shown (see all 212)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129367271,2
    C,F--90339051(+) CTCTCG/ACCCTG 5 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1497717971,2
    C--90339069(+) CTACAA/CCACCT 5 -- us2k10--------
    rs1447022861,2
    C--90339132(+) TCCTGA/GACCTC 5 -- us2k10--------
    rs1906937351,2
    --90339194(+) ACACAA/GTTCCA 5 -- us2k10--------
    rs1395271011,2
    C--90339201(+) TCCAGA/GTATTC 5 -- us2k10--------
    rs1444587021,2
    --90339284(+) CTCCAC/GAGAAG 5 -- us2k10--------
    rs789850721,2
    C,F--90339318(+) CGGCCG/AGGCAC 5 -- us2k11Minor allele frequency- A:0.10EA 120
    rs1466424891,2
    --90339338(+) CACCTG/TTAATT 5 -- us2k10--------
    rs1413313001,2
    --90339455(+) CAGGCA/GTGGTG 5 -- us2k10--------
    rs1424218331,2
    C--90339464(+) TGGTGC/TGCGCC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for CTSL (90340434 - 90346384 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CTSL: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CTSL
    DNA2.0 Custom Variant and Variant Library Synthesis for CTSL

    (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

    CTSL for disorders           About MalaCards
    OMIM gene information: 116880    OMIM disorders: --


    CTSL for disorders           About GeneDecksing

    10/61 Novoseek inferred disease relationships for CTSL gene (see all 61)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 41.7 39 16918298 (2), 19550400 (2), 11869092 (2), 8835762 (2) (see all 27)
    benign meningioma 41.1 1 11270551 (1)
    pulmonary emphysema 36.4 1 2365815 (1)
    tumors 34.2 104 9816040 (5), 9703780 (4), 16261157 (3), 19915865 (3) (see all 46)
    gingival overgrowth 33.5 3 12466121 (1), 15324353 (1)
    carcinoma squamous cell 31 8 12392065 (2), 19959474 (1), 7612192 (1), 12907202 (1) (see all 5)
    oral cancer 23.4 6 12907202 (2), 8985100 (1), 10987253 (1)
    glioblastoma 21.9 12 17094453 (3), 8521613 (3), 17574778 (3), 19137551 (1) (see all 5)
    cancer 21.7 42 16918298 (4), 19958782 (4), 17855659 (2), 15621884 (2) (see all 23)
    primary tumor 20.9 5 9816040 (1), 19550400 (1), 9508185 (1)

    Tumor Gene Database (TGDB): CTSL

    Export disorders for CTSL 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 CTSL gene, integrated from 9 sources (see all 535):
    (articles sorted by number of sources associating them with CTSL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete nucleotide and deduced amino acid sequences of human and murine preprocathepsin L. An abundant transcript induced by transformation of fibroblasts. (PubMed id 2835398)1, 2, 3 Joseph L.J.... Sukhatme V.P. (1988)
    2. The crystal structure of human cathepsin L complexed with E-64. (PubMed id 9141479)1, 2, 9 Fujishima A....Sugarawa T. (1997)
    3. Structure of human procathepsin L reveals the molecular basis of inhibition by the prosegment. (PubMed id 8896443)1, 2, 9 Coulombe R....Cygler M. (1996)
    4. Cloning, genomic organization, and chromosomal localization of human cathepsin L. (PubMed id 8419312)1, 3, 9 Chauhan S.S....Troen B.R. (1993)
    5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    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. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)
    8. Isolation and sequence of a cDNA for human pro-(cathepsin L). (PubMed id 3421948)1, 2 Gal S. and Gottesman M.M. (1988)
    9. Amino acid sequences of the human kidney cathepsins H and L. (PubMed id 3342889)1, 2 Ritonja A.... Turk V. (1988)
    10. The major ras induced protein in NIH3T3 cells is cathepsin L. (PubMed id 3550705)1, 2 Joseph L.J.... Sukhatme V.P. (1987)

    (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: 1514 HGNC: 2537 AceView: CTSL Ensembl:ENSG00000135047 euGenes: HUgn1514
    ECgene: CTSL Kegg: 1514 H-InvDB: CTSL

    (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 CTSL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTSL Genetics and Cytogenetics in Oncology and Haematology

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

    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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