CTSC - cathepsin C Gene

Homo sapiens

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

Gene ID: 1075 | Gene type: protein coding

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-112318A	GSK-2793660	Inhibitor	99.66%	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-120709	GSK2793660 hydrochloride	Inhibitor	/	Unkown
HY-RS03325	CTSC Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.