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    CTSL2 cathepsin L2 [ Homo sapiens ]

    Gene ID: 1515, updated on 11-May-2012
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    Summary

    Official Symbol
    CTSL2provided by HGNC
    Official Full Name
    cathepsin L2provided by HGNC
    Primary source
    HGNC:2538
    Locus tag
    UNQ268/PRO305
    See related
    Ensembl:ENSG00000136943; HPRD:04495; MIM:603308; Vega:OTTHUMG00000020314
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CTSU; CTSV; CATL2; MGC125957
    Summary
    The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]
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    Genomic context

    Location :
    9q22.2
    Sequence :
    Chromosome: 9; NC_000009.11 (99791959..99801925, complement)
    See CTSL2 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 22, member G Neighboring gene hippocampus abundant transcript-like 2 Neighboring gene yrdC domain containing (E. coli) pseudogene 2 Neighboring gene transcription elongation factor A (SII), 1 pseudogene 1 Neighboring gene growth arrest-specific 2 like 1 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    2. Nuclear cysteine cathepsin variants in thyroid carcinoma cells. Tedelind S, et al. Biol Chem, 2010 Aug. PMID 20536394.
    3. Expression of human cathepsin L or human cathepsin V in mouse thymus mediates positive selection of T helper cells in cathepsin L knock-out mice. Sevenich L, et al. Biochimie, 2010 Nov. PMID 20347002.
    4. Cathepsin V, but not cathepsins L, B and K, may release angiostatin-like fragments from plasminogen. Puzer L, et al. Biol Chem, 2008 Feb. PMID 18163891.
    5. An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury. Luke CJ, et al. Cell, 2007 Sep 21. PMID 17889653.

    See all (20) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. functions of CTSL and CTSV in the positive selection of CD4+ T cells
      Title: Expression of human cathepsin L or human cathepsin V in mouse thymus mediates positive selection of T helper cells in cathepsin L knock-out mice.
    2. A proteolytically active variant of cathepsin V is localized to cell nucleus (in peri-nucleolar pattern) in thyroid carcinoma cells.
      Title: Nuclear cysteine cathepsin variants in thyroid carcinoma cells.
    3. angiogenesis inhibition activity on endothelial cells caused by plasminogen processing by cathepsin V
      Title: Cathepsin V, but not cathepsins L, B and K, may release angiostatin-like fragments from plasminogen.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis.
    5. Associated with type 1 diabetes and early-onset myasthenia gravis.
      Title: Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis.
    6. Identification of CTSV & CTSL as targets for cystatin M/E, their (co)-expression in the stratum granulosum of skin, and activity of CTSL toward transglutaminase 3 strongly imply an important role for them in the differentiation process of human epidermis.
      Title: Cystatin M/E is a high affinity inhibitor of cathepsin V and cathepsin L by a reactive site that is distinct from the legumain-binding site. A novel clue for the role of cystatin M/E in epidermal cornification.
    7. Cathepsin V is involved in the degradation of invariant chain in human thymus
      Title: Cathepsin V is involved in the degradation of invariant chain in human thymus and is overexpressed in myasthenia gravis.
    8. Human cathepsin V compensates for murine cathepsin L in mouse epidermis and hair follicles.
      Title: The human cysteine protease cathepsin V can compensate for murine cathepsin L in mouse epidermis and hair follicles.
    9. propeptide was found to behave as a tight-binding inhibitor against CatV
      Title: Inhibition of cathepsin L-like proteases by cathepsin V propeptide.
    10. stratum corneum thiol protease is identical with the recently described cathepsin L2 protease.
      Title: Analysis of proteins with caseinolytic activity in a human stratum corneum extract revealed a yet unidentified cysteine protease and identified the so-called "stratum corneum thiol protease" as cathepsin l2.
    Submit: New GeneRIF Correction See all (11)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:107895 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the CTSL2 gene: The CTSL2 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystem
      Endochondral Ossification
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    kininogen binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    Sertoli cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    autophagic cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
    		  
    decidualization IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal aging IEA
    Inferred from Electronic Annotation
    more info
    		  
    nerve development IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to gonadotropin stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    secretory granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    vacuole IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cathepsin L2
    Names
    cathepsin L2
    cathepsin U
    cathepsin V
    cathepsin L2, preproprotein
    NP_001188504.1
    NP_001324.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001201575.1 → NP_001188504.1  cathepsin L2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK312806, AL445670, AW444458
      Consensus CDS
      CCDS6723.1
      UniProtKB/TrEMBL
      B2R717
      UniProtKB/Swiss-Prot
      O60911
      Related
      ENSP00000445052, ENST00000538255
      Conserved Domains (2) summary
      cd02248
      Location:115 – 332
      Blast Score: 793
      Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
      cl07031
      Location:29 – 87
      Blast Score: 177
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    2. NM_001333.3 → NP_001324.2  cathepsin L2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL445670, AW444458, AY358641
      Consensus CDS
      CCDS6723.1
      UniProtKB/Swiss-Prot
      O60911
      Related
      ENSP00000259470, OTTHUMP00000021738, ENST00000259470, OTTHUMT00000053301
      Conserved Domains (2) summary
      cd02248
      Location:115 – 332
      Blast Score: 793
      Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
      cl07031
      Location:29 – 87
      Blast Score: 177
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      99791959..99801925, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      69392607..69402573, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB019534.1 BAA34365.1
    genomic AL445670.19 CAI15053.1
    genomic CH471105.1 EAW58831.1
      EAW58832.1
    genomic CS265690.1 CAJ78377.1
    mRNA AB001928.1 BAA25909.1
    mRNA AF070448.1 AAC23598.1
    mRNA AK310645.1 None
    mRNA AK310740.1 None
    mRNA AK312806.1 BAG35664.1
    mRNA AW444458.1 None
    mRNA AY358641.1 AAQ89004.1
    mRNA BC023504.2 AAH23504.1
    mRNA BC110512.1 AAI10513.1
    mRNA Y14734.1 CAA75029.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60911.2 GenPept UniProtKB/Swiss-Prot:O60911
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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