CTSC - cathepsin C Gene

中文名称：组织蛋白酶 C

种属: Homo sapiens

同用名: JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1

基因 ID: 1075 | 基因类型: protein coding

关于 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.

功能概要

该基因编码肽酶 C1 家族和溶酶体半胱氨酸蛋白酶的一个成员，后者似乎是激活免疫系统细胞中许多丝氨酸蛋白酶的中央协调员。可变剪接导致多个转录本变体，其中至少一个编码前原蛋白，该前原蛋白经过蛋白水解处理以生成形成二硫键连接的二聚体的重链和轻链。前肽的一部分充当分子内伴侣，用于成熟酶的折叠和稳定。这种酶需要氯离子才能发挥作用，并且可以降解胰高血糖素。编码蛋白的缺陷已被证明是导致 Papillon-Lefevre 综合征的原因，Papillon-Lefevre 综合征是一种以掌跖角化病和牙周炎为特征的常染色体隐性遗传病。[RefSeq 提供，2015 年 11 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cysteine-type peptidase activity	IDA IDA: 通过直接分析推断	1586157	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18256700	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in proteolysis	IDA IDA: 通过直接分析推断	8811434	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CTSC 蛋白结构

CathepsinC_exc

Peptidase_C1

0
100
200
300
400
463 a.a.

蛋白主名

其他名称

dipeptidyl peptidase 1

cathepsin J	dipeptidyl transferase
dipeptidyl-peptidase I

CTSC 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CTSC	P53634	CST7	Homo sapiens	O76096	Anti Tag CoIP	18256700
种属内	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
种属内	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
种属内	CTSC	P53634	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	Phase
HY-112318A	GSK-2793660	Inhibitor	99.91%	Phase 1
HY-112318	GSK-2793660 free base	Inhibitor	/	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-120709	GSK2793660 hydrochloride	Inhibitor	/	否
HY-168591	CTSC-IN-1	Inhibitor	/	否
HY-RS03325	CTSC Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS03326	Ctsc Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS03327	Ctsc Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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