CTSC | ENSG00000109861 | NCBI 1075

Details for: CTSC

Gene ID: 1075

Symbol: CTSC

Ensembl ID: ENSG00000109861

Description: cathepsin C

Associated with

Adaptive immune system
(R-HSA-1280218)
Asparagine n-linked glycosylation
(R-HSA-446203)
Cargo concentration in the er
(R-HSA-5694530)
Copii-mediated vesicle transport
(R-HSA-204005)
Er to golgi anterograde transport
(R-HSA-199977)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Membrane trafficking
(R-HSA-199991)
Metabolism of proteins
(R-HSA-392499)
Mhc class ii antigen presentation
(R-HSA-2132295)
Neutrophil degranulation
(R-HSA-6798695)
Post-translational protein modification
(R-HSA-597592)
Transport to the golgi and subsequent modification
(R-HSA-948021)
Vesicle-mediated transport
(R-HSA-5653656)
Apoptotic process
(GO:0006915)
Azurophil granule lumen
(GO:0035578)
Centrosome
(GO:0005813)
Chloride ion binding
(GO:0031404)
Collagen-containing extracellular matrix
(GO:0062023)
Copii-coated er to golgi transport vesicle
(GO:0030134)
Cysteine-type endopeptidase activity
(GO:0004197)
Cysteine-type peptidase activity
(GO:0008234)
Dipeptidyl-peptidase activity
(GO:0008239)
Endoplasmic reticulum-golgi intermediate compartment membrane
(GO:0033116)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Identical protein binding
(GO:0042802)
Immune response
(GO:0006955)
Intracellular membrane-bounded organelle
(GO:0043231)
Lysosome
(GO:0005764)
Membrane
(GO:0016020)
Negative regulation of myelination
(GO:0031642)
Nucleoplasm
(GO:0005654)
Peptidase activator activity involved in apoptotic process
(GO:0016505)
Phosphatase binding
(GO:0019902)
Positive regulation of apoptotic signaling pathway
(GO:2001235)
Positive regulation of microglial cell activation
(GO:1903980)
Positive regulation of proteolysis involved in protein catabolic process
(GO:1903052)
Protein-folding chaperone binding
(GO:0051087)
Protein binding
(GO:0005515)
Protein self-association
(GO:0043621)
Proteolysis
(GO:0006508)
Proteolysis involved in protein catabolic process
(GO:0051603)
Response to organic substance
(GO:0010033)
Serine-type endopeptidase activity
(GO:0004252)
T cell mediated cytotoxicity
(GO:0001913)

Other Information

Proteins

Dipeptidyl peptidase 1

Genular Protein ID: 467141287

Symbol: CATC_HUMAN

Name: Dipeptidyl peptidase 1

UniProtKB Accession Codes:

P53634 A8K7V2 B5MDD5 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99 Q8WYA7 Q8WYA8

Database IDs:

Citations:

PubMed ID: 7649281

Title: Molecular cloning and sequence analysis of human preprocathepsin C.

PubMed ID: 7649281

DOI: 10.1016/0014-5793(95)00777-7

PubMed ID: 9092576

Title: Human dipeptidyl-peptidase I. Gene characterization, localization, and expression.

PubMed ID: 9092576

DOI: 10.1074/jbc.272.15.10260

PubMed ID: 11180601

Title: Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation.

PubMed ID: 11180601

DOI: 10.1002/1098-1004(200102)17:2<152::aid-humu10>3.0.co;2-#

PubMed ID: 12809647

Title: A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome.

PubMed ID: 12809647

DOI: 10.1016/s1096-7192(03)00070-2

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9507095

Title: Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C.

PubMed ID: 9507095

DOI: 10.1016/s0167-4838(97)00173-8

PubMed ID: 7665576

Title: Oligomeric structure and substrate induced inhibition of human cathepsin C.

PubMed ID: 7665576

DOI: 10.1074/jbc.270.37.21626

PubMed ID: 11015218

Title: The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme.

PubMed ID: 11015218

DOI: 10.1021/bi0008837

PubMed ID: 1586157

Title: Purification and characterization of dipeptidyl peptidase I from human spleen.

PubMed ID: 1586157

DOI: 10.1016/0003-9861(92)90519-3

PubMed ID: 8428921

Title: Generation of active myeloid and lymphoid granule serine proteases requires processing by the granule thiol protease dipeptidyl peptidase I.

PubMed ID: 8428921

DOI: 10.1016/s0021-9258(18)53798-4

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 11726493

Title: Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases.

PubMed ID: 11726493

DOI: 10.1093/emboj/20.23.6570

PubMed ID: 10581027

Title: Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

PubMed ID: 10581027

DOI: 10.1038/70525

PubMed ID: 10662807

Title: Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.

PubMed ID: 10662807

DOI: 10.1136/jmg.37.2.88

PubMed ID: 10662808

Title: Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

PubMed ID: 10662808

DOI: 10.1136/jmg.37.2.95

PubMed ID: 11106356

Title: Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients.

PubMed ID: 11106356

DOI: 10.1136/jmg.37.12.927

PubMed ID: 11180012

Title: Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene.

PubMed ID: 11180012

DOI: 10.1046/j.1523-1747.2001.01244.x

PubMed ID: 11886537

Title: Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome.

PubMed ID: 11886537

DOI: 10.1046/j.0022-202x.2001.01595.x

PubMed ID: 11158173

Title: Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients.

PubMed ID: 11158173

DOI: 10.1136/jmg.38.2.96

PubMed ID: 12112662

Title: Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome.

PubMed ID: 12112662

DOI: 10.1002/humu.9040

PubMed ID: 14974080

Title: The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.

PubMed ID: 14974080

DOI: 10.1002/humu.10314

PubMed ID: 15108292

Title: Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs.

PubMed ID: 15108292

DOI: 10.1002/humu.9243

PubMed ID: 15991336

Title: Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.

PubMed ID: 15991336

PubMed ID: 25799584

Title: Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

PubMed ID: 25799584

DOI: 10.1371/journal.pone.0121351

Sequence Information:

Length: 463
Mass: 51854
Checksum: 4C9C7C24D900CEE6
Sequence:

MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR DVNCSVMGPQ 
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKYKEE GSKVTTYCNE 
TMTGWVHDVL GRNWACFTGK KVGTASENVY VNIAHLKNSQ EKYSNRLYKY DHNFVKAINA 
IQKSWTATTY MEYETLTLGD MIRRSGGHSR KIPRPKPAPL TAEIQQKILH LPTSWDWRNV 
HGINFVSPVR NQASCGSCYS FASMGMLEAR IRILTNNSQT PILSPQEVVS CSQYAQGCEG 
GFPYLIAGKY AQDFGLVEEA CFPYTGTDSP CKMKEDCFRY YSSEYHYVGG FYGGCNEALM 
KLELVHHGPM AVAFEVYDDF LHYKKGIYHH TGLRDPFNPF ELTNHAVLLV GYGTDSASGM 
DYWIVKNSWG TGWGENGYFR IRRGTDECAI ESIAVAATPI PKL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CTSC

Associated with

Other Information

Molecular cloning and sequence analysis of human preprocathepsin C. PubMed ID: 7649281

Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. PubMed ID: 9092576

Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation. PubMed ID: 11180601

A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome. PubMed ID: 12809647

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Human chromosome 11 DNA sequence and analysis including novel gene identification. PubMed ID: 16554811

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C. PubMed ID: 9507095

Oligomeric structure and substrate induced inhibition of human cathepsin C. PubMed ID: 7665576

The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme. PubMed ID: 11015218

Purification and characterization of dipeptidyl peptidase I from human spleen. PubMed ID: 1586157

Generation of active myeloid and lymphoid granule serine proteases requires processing by the granule thiol protease dipeptidyl peptidase I. PubMed ID: 8428921

Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. PubMed ID: 19167329

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. PubMed ID: 11726493

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. PubMed ID: 10581027

Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. PubMed ID: 10662807

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. PubMed ID: 10662808

Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. PubMed ID: 11106356

Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene. PubMed ID: 11180012

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. PubMed ID: 11886537

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients. PubMed ID: 11158173

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome. PubMed ID: 12112662

The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. PubMed ID: 14974080

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. PubMed ID: 15108292

Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. PubMed ID: 15991336

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. PubMed ID: 25799584