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CTSC cathepsin C [ Homo sapiens (human) ]

Gene ID: 1075, updated on 17-Apr-2020

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

Genomic context

See CTSC in Genome Data Viewer
Location:
11q14.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (88293592..88337736, 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 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
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
PubMed 
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 
negative regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of microglial cell activation 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
PubMed 
response to organic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lysosome TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
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)

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, ENST00000529974.1
    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, ENST00000524463.5
    Conserved Domains (1) summary
    pfam08773
    Location:26106
    CathepsinC_exc; Cathepsin C exclusion domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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