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Aliases for CTSC Gene

Aliases for CTSC Gene

  • Cathepsin C 2 3 4
  • CPPI 3 4 6
  • Dipeptidyl Peptidase 1 2 3
  • Dipeptidyl Peptidase I 3 4
  • Dipeptidyl Transferase 3 4
  • Cathepsin J 3 4
  • EC 3.4.14.1 4 63
  • PDON1 3 6
  • DPP-I 3 4
  • PALS 3 6
  • DPPI 3 4
  • HMS 3 6
  • JPD 3 6
  • PLS 3 6
  • Dipeptidyl-Peptidase I 3
  • DPP1 3
  • JP 3

External Ids for CTSC Gene

Previous Symbols for CTSC Gene

  • PLS
  • PALS

Summaries for CTSC Gene

Entrez Gene Summary for CTSC Gene

  • The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CTSC Gene

CTSC (Cathepsin C) is a Protein Coding gene. Diseases associated with CTSC include papillon-lefevre syndrome and haim-munk syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Lysosome. GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CTSW.

UniProtKB/Swiss-Prot for CTSC Gene

  • Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.

Gene Wiki entry for CTSC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSC Gene

Genomics for CTSC Gene

Genomic Location for CTSC Gene

Start:
88,293,592 bp from pter
End:
88,337,787 bp from pter
Size:
44,196 bases
Orientation:
Minus strand

Genomic View for CTSC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTSC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSC Gene

Regulatory Elements for CTSC Gene

Proteins for CTSC Gene

  • Protein details for CTSC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53634-CATC_HUMAN
    Recommended name:
    Dipeptidyl peptidase 1
    Protein Accession:
    P53634
    Secondary Accessions:
    • A8K7V2
    • B5MDD5
    • Q2HIY8
    • Q53G93
    • Q71E75
    • Q71E76
    • Q7M4N9
    • Q7Z3G7
    • Q7Z5U7
    • Q8WY99
    • Q8WYA7
    • Q8WYA8

    Protein attributes for CTSC Gene

    Size:
    463 amino acids
    Molecular mass:
    51854 Da
    Cofactor:
    Name=chloride; Xref=ChEBI:CHEBI:17996; Note=Binds 1 Cl(-) ion per heavy chain.;
    Quaternary structure:
    • Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains.
    SequenceCaution:
    • Sequence=CAD97897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTSC Gene

    Alternative splice isoforms for CTSC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTSC Gene

Proteomics data for CTSC Gene at MOPED

Post-translational modifications for CTSC Gene

  • In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond
  • N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn29, Asn53, Asn119, and Asn276

Other Protein References for CTSC Gene

Domains for CTSC Gene

Gene Families for CTSC Gene

HGNC:
  • CTS :Cathepsins

Suggested Antigen Peptide Sequences for CTSC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53634

UniProtKB/Swiss-Prot:

CATC_HUMAN
Family:
  • Belongs to the peptidase C1 family.:
    • P53634
genes like me logo Genes that share domains with CTSC: view

Function for CTSC Gene

Molecular function for CTSC Gene

GENATLAS Biochemistry: cathepsin C,lysosomal cysteine protease,papain superfamily,mainly expressed in lung,kidney,placenta,polynuclear leukocytes,alveolar macrophages,activated by chloride ion,potentially involved with chloride in the regulation of proleolysis in the lysosome
UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: High activity at pH 4.5-6.8. {ECO:0000269 PubMed:1586157};
UniProtKB/Swiss-Prot CatalyticActivity: Release of an N-terminal dipeptide, Xaa-Yaa- -Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro
UniProtKB/Swiss-Prot EnzymeRegulation: Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine. Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion chelators.
UniProtKB/Swiss-Prot Function: Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.
UniProtKB/Swiss-Prot Induction: Up-regulated in lymphocytes by IL2/interleukin-2.

Enzyme Numbers (IUBMB) for CTSC Gene

Gene Ontology (GO) - Molecular Function for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 18256700
GO:0008234 cysteine-type peptidase activity IDA 8811434
GO:0016505 peptidase activator activity involved in apoptotic process IEA --
GO:0019902 phosphatase binding ISS 18307834
genes like me logo Genes that share ontologies with CTSC: view
genes like me logo Genes that share phenotypes with CTSC: view

Animal Models for CTSC Gene

MGI Knock Outs for CTSC:

miRNA for CTSC Gene

No data available for Transcription Factor Targeting and HOMER Transcription for CTSC Gene

Localization for CTSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSC Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTSC Gene COMPARTMENTS Subcellular localization image for CTSC gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 2
extracellular 2
golgi apparatus 2
nucleus 2
plasma membrane 2
cytoskeleton 1
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005764 lysosome TAS 7665576
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CTSC: view

Pathways for CTSC Gene

genes like me logo Genes that share pathways with CTSC: view

Pathways by source for CTSC Gene

2 Reactome pathways for CTSC Gene
1 KEGG pathway for CTSC Gene

Gene Ontology (GO) - Biological Process for CTSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001913 T cell mediated cytotoxicity IEA --
GO:0006508 proteolysis IDA 8811434
GO:0006915 apoptotic process IEA --
GO:0006955 immune response TAS 9092576
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with CTSC: view

Compounds for CTSC Gene

(1) HMDB Compounds for CTSC Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6

(18) Novoseek inferred chemical compound relationships for CTSC Gene

Compound -log(P) Hits PubMed IDs
leu-leu-ome 93 4
7-amino-4-methylcoumarin 73.5 6
actinidin 66.9 1
cysteine 63.4 22
serine 48.9 20
genes like me logo Genes that share compounds with CTSC: view

Transcripts for CTSC Gene

Unigene Clusters for CTSC Gene

Cathepsin C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTSC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3:
SP4: -
SP5: - -
SP6: - - - - - -
SP7: - - - - - -

Relevant External Links for CTSC Gene

GeneLoc Exon Structure for
CTSC
ECgene alternative splicing isoforms for
CTSC

Expression for CTSC Gene

mRNA expression in normal human tissues for CTSC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTSC Gene

This gene is overexpressed in Whole Blood (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTSC Gene

SOURCE GeneReport for Unigene cluster for CTSC Gene Hs.128065

mRNA Expression by UniProt/SwissProt for CTSC Gene

P53634-CATC_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas.
genes like me logo Genes that share expressions with CTSC: view

Orthologs for CTSC Gene

This gene was present in the common ancestor of animals.

Orthologs for CTSC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTSC 35
  • 99.5 (n)
  • 99.14 (a)
CTSC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTSC 35
  • 86.61 (n)
  • 87.47 (a)
CTSC 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
CTSC 35
  • 86.56 (n)
  • 83.88 (a)
CTSC 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ctsc 35
  • 82.32 (n)
  • 79.1 (a)
Ctsc 16
Ctsc 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CTSC 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctsc 35
  • 83 (n)
  • 79.78 (a)
chicken
(Gallus gallus)
Aves CTSC 35
  • 71.66 (n)
  • 70.75 (a)
CTSC 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSC 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ctsc-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsc 35
  • 63.12 (n)
  • 62.6 (a)
Str.7386 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8253 35
zebrafish
(Danio rerio)
Actinopterygii ctsc 35
ctsc 35
  • 65.29 (n)
  • 66.44 (a)
ctsc 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cpz-2 36
  • 24 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4069 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3714 36
  • 49 (a)
OneToOne
Species with no ortholog for CTSC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSC Gene

ENSEMBL:
Gene Tree for CTSC (if available)
TreeFam:
Gene Tree for CTSC (if available)

Paralogs for CTSC Gene

Paralogs for CTSC Gene

genes like me logo Genes that share paralogs with CTSC: view

Variants for CTSC Gene

Sequence variations from dbSNP and Humsavar for CTSC Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs6506 -- 88,335,072(-) CAAGA(A/G)AAAAA reference, synonymous-codon
rs17594 -- 88,294,225(-) CACAC(G/T)GGTCT synonymous-codon, reference
rs170082 -- 88,330,780(+) TCTCC(A/G)TCCCT intron-variant
rs170083 -- 88,296,989(+) GAAGG(A/T)CCTGT intron-variant
rs184266 -- 88,315,168(+) TCCTT(C/G)GTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTSC Gene

Variant ID Type Subtype PubMed ID
nsv898082 CNV Gain 21882294

Relevant External Links for CTSC Gene

HapMap Linkage Disequilibrium report
CTSC
Human Gene Mutation Database (HGMD)
CTSC
Locus Specific Mutation Databases (LSDB)
CTSC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSC Gene

Disorders for CTSC Gene

(3) OMIM Diseases for CTSC Gene (602365)

UniProtKB/Swiss-Prot

CATC_HUMAN
  • Papillon-Lefevre syndrome (PLS) [MIM:245000]: An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. {ECO:0000269 PubMed:10581027, ECO:0000269 PubMed:10662808, ECO:0000269 PubMed:11106356, ECO:0000269 PubMed:11158173, ECO:0000269 PubMed:11180012, ECO:0000269 PubMed:11180601, ECO:0000269 PubMed:11886537, ECO:0000269 PubMed:12112662, ECO:0000269 PubMed:12809647, ECO:0000269 PubMed:14974080, ECO:0000269 PubMed:15108292, ECO:0000269 PubMed:15991336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Haim-Munk syndrome (HMS) [MIM:245010]: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. {ECO:0000269 PubMed:10662807}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Periodontititis, aggressive, 1 (AP1) [MIM:170650]: A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. {ECO:0000269 PubMed:10662808, ECO:0000269 PubMed:14974080}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(13) Novoseek inferred disease relationships for CTSC Gene

Disease -log(P) Hits PubMed IDs
papillon-lefevre syndrome 95.9 18
haim-munk syndrome 90 2
keratoderma palmoplantar 80.3 4
hyperkeratosis 77.7 2
prepubertal periodontitis 68.4 5

Relevant External Links for CTSC

Genetic Association Database (GAD)
CTSC
Human Genome Epidemiology (HuGE) Navigator
CTSC
genes like me logo Genes that share disorders with CTSC: view

Publications for CTSC Gene

  1. Molecular cloning and sequence analysis of human preprocathepsin C. (PMID: 7649281) Paris A. … Turk V. (FEBS Lett. 1995) 2 3 4 23
  2. Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. (PMID: 9092576) Rao N.V. … Hoidal J.R. (J. Biol. Chem. 1997) 2 3 4 23
  3. Oligomeric structure and substrate induced inhibition of human cathepsin C. (PMID: 7665576) Dolenc I. … Turk V. (J. Biol. Chem. 1995) 3 4 23
  4. Purification and characterization of dipeptidyl peptidase I from human spleen. (PMID: 1586157) McGuire M.J. … Thiele D.L. (Arch. Biochem. Biophys. 1992) 3 4 23
  5. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (PMID: 10581027) Toomes C. … Thakker N.S. (Nat. Genet. 1999) 3 4 23

Products for CTSC Gene

Sources for CTSC Gene

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