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    CTSC cathepsin C [ Homo sapiens (human) ]

    Gene ID: 1075, updated on 8-Jul-2021

    Summary

    Official Symbol
    CTSCprovided by HGNC
    Official Full Name
    cathepsin Cprovided by HGNC
    Primary source
    HGNC:HGNC:2528
    See related
    Ensembl:ENSG00000109861 MIM:602365
    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]
    Expression
    Broad expression in placenta (RPKM 28.5), lung (RPKM 26.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See CTSC in Genome Data Viewer
    Location:
    11q14.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (88293592..88337736, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88026760..88070904, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984361 Neighboring gene MT-CYB pseudogene 41 Neighboring gene RAB38, member RAS oncogene family Neighboring gene microRNA 3166 Neighboring gene uncharacterized LOC101929174 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4755 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 70

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with CTSC; predicted interaction to be within the endoplasmic reticulum PubMed
    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables chloride ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dipeptidyl-peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activator activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of microglial cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of proteolysis involved in cellular protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis involved in cellular protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dipeptidyl peptidase 1
    Names
    cathepsin J
    dipeptidyl transferase
    dipeptidyl-peptidase I
    NP_001107645.1
    NP_001805.4
    NP_680475.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001114173.3NP_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, BX537913, CN368896
      Consensus CDS
      CCDS44693.1
      UniProtKB/Swiss-Prot
      P53634
      Related
      ENSP00000433539.1, ENST00000529974.2
      Conserved Domains (1) summary
      pfam08773
      Location:26106
      CathepsinC_exc; Cathepsin C exclusion domain
    2. NM_001814.6NP_001805.4  dipeptidyl peptidase 1 isoform a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC011088
      Consensus CDS
      CCDS8282.1
      Related
      ENSP00000227266.4, ENST00000227266.10
      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_148170.5NP_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, BX537913
      Consensus CDS
      CCDS31654.1
      UniProtKB/Swiss-Prot
      P53634
      Related
      ENSP00000432541.1, ENST00000524463.6
      Conserved Domains (1) summary
      pfam08773
      Location:26106
      CathepsinC_exc; Cathepsin C exclusion domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      88293592..88337736 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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