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    CTSC cathepsin C [ Homo sapiens (human) ]

    Gene ID: 1075, updated on 23-Aug-2016
    Official Symbol
    CTSCprovided by HGNC
    Official Full Name
    cathepsin Cprovided by HGNC
    Primary source
    HGNC:HGNC:2528
    See related
    Ensembl:ENSG00000109861 HPRD:03841; MIM:602365; Vega:OTTHUMG00000167290
    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
    JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1
    Summary
    This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]
    Orthologs
    Location:
    11q14.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (88293592..88337787, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88026760..88070941, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984361 Neighboring gene RAB38, member RAS oncogene family Neighboring gene microRNA 3166 Neighboring gene uncharacterized LOC101929174 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 Neighboring gene GRM5 antisense RNA 1 Neighboring gene glutamate metabotropic receptor 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of cathepsin C (CTSC) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of cathepsin C (CTSC) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • 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...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    chloride ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activator activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of proteolysis involved in cellular protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis involved in cellular protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle TAS
    Traceable Author Statement
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    dipeptidyl peptidase 1
    Names
    cathepsin J
    dipeptidyl peptidase I
    dipeptidyl transferase
    dipeptidyl-peptidase I
    NP_001107645.1
    NP_001805.3
    NP_680475.1

    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.

    Genomic

    1. NG_007952.1 RefSeqGene

      Range
      5001..49182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_50

    mRNA and Protein(s)

    1. NM_001114173.2NP_001107645.1  dipeptidyl peptidase 1 isoform c precursor

      See identical proteins and their annotated locations for NP_001107645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the coding sequence and 3' UTR compared to variant 1. This results in an isoform (c) that is much shorter and contains a different C-terminus than isoform a.
      Source sequence(s)
      AC011088, BC113850, BX380095, BX537913, CN368896
      Consensus CDS
      CCDS44693.1
      UniProtKB/Swiss-Prot
      P53634
      Related
      ENSP00000433539, OTTHUMP00000235627, ENST00000529974, OTTHUMT00000394025
      Conserved Domains (1) summary
      pfam08773
      Location:25106
      CathepsinC_exc; Cathepsin C exclusion domain
    2. NM_001814.5NP_001805.3  dipeptidyl peptidase 1 isoform a preproprotein

      See identical proteins and their annotated locations for NP_001805.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK292117, BM997817, BX380095, CN368896
      Consensus CDS
      CCDS8282.1
      UniProtKB/Swiss-Prot
      P53634
      Related
      ENSP00000227266, OTTHUMP00000235623, ENST00000227266, OTTHUMT00000394019
      Conserved Domains (2) summary
      cd02621
      Location:231460
      Peptidase_C1A_CathepsinC; Cathepsin C; also known as Dipeptidyl Peptidase I (DPPI), an atypical papain-like cysteine peptidase with chloride dependency and dipeptidyl aminopeptidase activity, resulting from its tetrameric structure which limits substrate access. Each subunit of ...
      pfam08773
      Location:26138
      CathepsinC_exc; Cathepsin C exclusion domain
    3. NM_148170.4NP_680475.1  dipeptidyl peptidase 1 isoform b precursor

      See identical proteins and their annotated locations for NP_680475.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the coding sequence and 3' UTR compared to variant 1. This results in an isoform (b) that is much shorter and contains a different C-terminus than isoform a. Isoform b may act as a negative regulator of a stable mature enzyme.
      Source sequence(s)
      AC011088, BX380095, BX537913, CN368896
      Consensus CDS
      CCDS31654.1
      UniProtKB/Swiss-Prot
      P53634
      Related
      ENSP00000432541, OTTHUMP00000235625, ENST00000524463, OTTHUMT00000394023
      Conserved Domains (1) summary
      pfam08773
      Location:26106
      CathepsinC_exc; Cathepsin C exclusion domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      88293592..88337787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      87909527..87953714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)