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CTSC - cathepsin C Gene

Also Known as JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1075

About CTSC

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:88,293,592-88,337,736 (from NCBI)

This gene has 31 transcripts (splice variants), 233 orthologues, 12 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 28.5), lung (RPKM 26.8) and 24 other tissues.

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]

CTSC Products (3)

mRNA	Protein	Name
NM_001814.6	NP_001805.4	dipeptidyl peptidase 1 isoform a preproprotein
NM_148170.5	NP_680475.1	dipeptidyl peptidase 1 isoform b precursor
NM_001114173.3	NP_001107645.1	dipeptidyl peptidase 1 isoform c precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables cysteine-type peptidase activity	IDA IDA: Inferred from direct assay	1586157	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18256700	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proteolysis	IDA IDA: Inferred from direct assay	8811434	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTSC Protein Structure

CathepsinC_exc

Peptidase_C1

0
100
200
300
400
463 a.a.

Protein Preferred Names	Protein Names
dipeptidyl peptidase 1	cathepsin J dipeptidyl transferase dipeptidyl-peptidase I

CTSC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CTSC	P53634	CST7	Homo sapiens	O76096	Anti Tag CoIP	18256700
Intra	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type Xx	OI20 Osteogenesis Imperfecta Type 20 Osteogenesis Imperfecta, Type 20 Osteogenesis Imperfecta Type Xx Osteogenesis Imperfecta 20
Haim-Munk Syndrome	HMS Keratosis Palmoplantaris With Periodontopathia And Onychogryposis Cochin Jewish Disorder Keratosis Palmoplantaris-Periodontopathia-Onychogryposis Syndrome Palmoplantar Hyperkeratosis-Periodontopathia-Onychogryposis Syndrome Palmoplantar Keratoderma-Periodontopathia-Onychogryposis Syndrome
Bubonic Plague	Black Death Plague, Bubonic Plague, Septicemic Pestis Bubonica
Aggressive Periodontitis	Juvenile Periodontitis Periodontitis, Juvenile Prepubertal Periodontitis
Keratosis	Actinic Keratosis Hyperkeratosis
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Periodontitis, Aggressive, 1	Ppp Pustulosis Palmaris Et Plantaris Periodontitis, Juvenile Localized Pustular Psoriasis Jpd Periodontitis 1, Juvenile Lpp Palmoplantar Pustulosis Prepubertal Periodontitis Periodontitis, Aggressive 1 Periodontitis, Prepubertal Periodontititis, Aggressive, 1 AP1 Juvenile Periodontitis Periodontitis Juvenile Pustulosis Of Palms And Soles Generalized Pustular Psoriasis
Hypotrichosis
Deafness, Autosomal Recessive 100	DFNB100 Autosomal Recessive Nonsyndromic Deafness 100 Autosomal Recessive Deafness 100 Deafness, Autosomal Recessive, 100
Septicemic Plague	Plague, Septicemic
Papillon-Lefevre Syndrome	Papillon-Lefevre Disease Papillon-Lefèvre Syndrome PLS Keratosis Palmoplantaris With Periodontopathia PALS Papillon Lefevre Syndrome Keratosis Palmoplantar-Periodontopathy Syndrome Papillon-Lefvre Syndrome Hyperkeratosis Palmoplantaris With Periodontosis Keratoris Palmoplantaris With Periodontopathia Keratosis Palmoplantar - Periodontopathy Palmar-Plantar Hyperkeratosis And Concomitant Periodontal Destruction Palmoplantar Keratoderma With Periodontosis Palsy
Joubert Syndrome 33	JBTS33 Joubert Syndrome, Type 33
Mast Cell Neoplasm	Mastocytoma Mast Cell Proliferative Disease Mast Cell Tumor Benign Mastocytoma
Acroosteolysis	Acro-Osteolysis
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Periodontosis	Periodontitis, Juvenile Parodontosis Paradentosis
Plague	Yersiniosis Yersinia Infections Infection By Yersinia Pestis Pasteurella Pestis Infection Pestilential Fever Yersinia Pestis Infection
Pneumonic Plague	Primary Pneumonic Plague Secondary Pneumonic Plague Plague Plague, Pneumonic Plague Pneumonia Plague Of Lung Pulmonary Plague Pneumonia Due To Yersinia Pestis
Periodontitis	Chronic Pericementitis Chronic Periodontitis
Osteogenesis Imperfecta, Type Xxi	OI21 Osteogenesis Imperfecta Type 21 Osteogenesis Imperfecta, Type 21 Osteogenesis Imperfecta Type Xxi Osteogenesis Imperfecta 21

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-112318A	GSK-2793660	Inhibitor	99.91%	Phase 1
HY-112318	GSK-2793660 free base	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03325	CTSC Human Pre-designed siRNA Set A		/	Unkown
HY-168591	CTSC-IN-1	Inhibitor	/	Unkown
HY-RS03326	Ctsc Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS03327	Ctsc Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CTSC	MGD	MGI:109553
Bos taurus	CTSC	VGNC	VGNC:27814
Rattus norvegicus	CTSC	RGD	RGD:2445
Macaca mulatta	CTSC	VGNC	VGNC:71553
Felis catus	CTSC	VGNC	VGNC:61266
Others	CTSC	NCBI