CTSK - cathepsin K Gene

Homo sapiens

Also known as CTSO; PKND; PYCD; CTS02; CTSO1; CTSO2

Gene ID: 1513 | Gene type: protein coding

About CTSK

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,796,208-150,808,260 (from NCBI)

This gene has 20 transcripts (splice variants), 240 orthologues, 12 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 190.4), urinary bladder (RPKM 132.0) and 15 other tissues.

Summary

The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]

CTSK Products(1)

mRNA	Protein	Name
NM_000396.4	NP_000387.1	cathepsin K preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables collagen binding	IDA IDA: Inferred from direct assay	22952693	GOA
enables cysteine-type endopeptidase activity	IDA IDA: Inferred from direct assay	22952693	GOA
enables cysteine-type peptidase activity	IDA IDA: Inferred from direct assay	19834056	GOA
enables fibronectin binding	IPI IPI: Inferred from physical interaction	22952693	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12504904	GOA
enables proteoglycan binding	IPI IPI: Inferred from physical interaction	22952693	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within collagen catabolic process	IDA IDA: Inferred from direct assay	19834056	GOA
involved in collagen catabolic process	IDA IDA: Inferred from direct assay	22952693	GOA
involved in proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	11082042	GOA
involved in thyroid hormone generation	IDA IDA: Inferred from direct assay	11082042	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular space	IDA IDA: Inferred from direct assay	11082042	GOA
located in lysosome	IDA IDA: Inferred from direct assay	11082042	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

CTSK Protein Structure

Inhibitor_I29

Peptidase_C1

0
100
200
300
329 a.a.

Protein Preferred Names

Protein Names

cathepsin K

cathepsin O	cathepsin O1
cathepsin O2	cathepsin X

Related Diseases

Diseases

Alias

Osteopetrosis

Albers-Schonberg Disease	Marble Bone Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Chondrodystrophy	Skeletal Dysplasia
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Bone Benign Neoplasm

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Ischemic Bone Disease

Hypercementosis

Cementation Hyperplasia

Localized Scleroderma

Morphea	Localised Scleroderma
Localized Fibrosing Scleroderma	Circumscribed Scleroderma
Localised Morphea	Localised Morphoea
Localized Morphea	Scleroderma, Circumscribed Or Localised
Scleroderma, Circumscribed Or Localized	Scleroderma, Localized

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Metachondromatosis

METCDS

Van Buchem Disease

Hyperostosis Corticalis Generalisata	Hyperphosphatasemia Tarda
VBCH	Sost-Related Sclerosing Bone Dysplasia
Endosteal Hyperostosis Autosomal Recessive	Sclerosteosis
Endosteal Hyperostosis, Autosomal Recessive	Hyperotosis Corticalis Generalisata Familiaris
Sost Sclerosing Bone Dysplasia	Smith-Lemli-Opitz Syndrome

Uterus Perivascular Epithelioid Cell Tumor

Uterine Corpus Pecoma

Osteopetrosis, Autosomal Dominant 2

OPTA2	Autosomal Dominant Osteopetrosis 2
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis, Autosomal Dominant, Type Ii
Albers-Schonberg Osteopetrosis	Autosomal Dominant Albers-Schonberg Disease
Osteopetrosis	Marble Bones, Autosomal Dominant
Osteosclerosis Fragilis Generalisata	Albers-Schonberg Disease, Autosomal Dominant
Autosomal Dominant Osteopetrosis Type Ii	Albers-Schönberg Osteopetrosis
Autosomal Dominant Osteopetrosis Type 2	Marble Disease Autosomal Dominant
Osteopetrosis, Autosomal Dominant, Type 2

Perivascular Tumor

Malignant Perivascular Cancer

Glucocorticoid-Induced Osteoporosis

Steroid-Induced Osteoporosis

Scoliosis

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Primary Bone Dysplasia

Primary Osteodysplasia

Primary Skeletal Dysplasia

Monckeberg Arteriosclerosis

Monckeberg Medial Calcific Sclerosis

Bone Development Disease

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Periapical Periodontitis

Apical Periodontitis

Periodontitis Apical

Mammary Paget'S Disease

Paget'S Disease	Mammary Paget Disease
Paget'S Disease Of The Breast	Paget Disease Of The Breast
Paget'S Disease Of The Nipple	Paget'S Disease, Mammary
Paget Cell Neoplasm	Paget Disease Of The Nipple
Pagets Disease Mammary	Osteitis Deformans

Nail Disorder, Nonsyndromic Congenital, 9

Nail Dysplasia	NDNC9
Anonychia-Onycholysis, Isolated	Onychodystrophy
Nonsyndromic Congenital Nail Disorder 9	Dystrophia Unguium

Lymphangioleiomyomatosis

Lymphangiomyomatosis	LAM
Lung Lymphangioleiomyomatosis	Pulmonary Lymphangioleiomyomatosis
Lymphangioleiomyomatosis, Somatic	Lymphangio-Myomatosis

Autosomal Recessive Disease

Autosomal Recessive Disorder

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis	Worth Syndrome
Osteosclerosis, Autosomal Dominant	Hyperostosis, Endosteal
Endosteal Hyperostosis, Worth Type	Worth Disease
Autosomal Dominant Osteosclerosis, Worth Type	Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus
Autosomal Dominant Endosteal Hyperostosis	Autosomal Dominant Osteosclerosis
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus	Worth'S Syndrome
Worth Type Autosomal Dominant Osteosclerosis	Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
Osteosclerosis, Autosomal Dominant, Worth Type	WENHY
Endosteal Hyperostosis Autosomal Dominant	Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
Osteosclerosis Autosomal Dominant	Acquired Osteosclerosis

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
BMIQ11	Obesity Bmiq11
Obesity, Early-Onset	Obesity , Susceptibility To
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Gum Cancer

Malignant Neoplasm Of Gum	Malignant Tumor Of Gum
Malignant Gingival Tumor	Malignant Neoplasm Of Other Sites Of Gum
Malignant Tumour Of Gingiva

Bone Resorption Disease

Bone Resorption

Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Pycnodysostosis

Pyknodysostosis	PKND
Pycd	Toulouse-Lautrec Syndrome

Bone Remodeling Disease

Osteomyelitis

Sclerosteosis

Cortical Hyperostosis With Syndactyly	Sost
Cortical Hyperostosis-Syndactyly Syndrome

Perivascular Epithelioid Cell Tumor

Pecoma	Perivascular Epithelioid Cell Neoplasms
Neoplasm With Perivascular Epithelioid Cell Differentiation

Bone Giant Cell Tumor

Giant Cell Tumor Of Bone	Osteoclastoma
Gct Of Bone	Bone Giant Cell Tumour
Giant Cell Myeloma	Giant Cell Neoplasm Of Bone
Giant Cell Tumour Of Bone

Benign Giant Cell Tumor

Giant Cell Tumors

Paget'S Disease Of Bone

Osteitis Deformans	Paget Disease Of Bone
Osseous Paget'S Disease	Paget Disease Of Bone, Familial
Bone Paget Disease	Familial Paget'S Disease Of Bone
Paget'S Bone Disease	Familial Paget Disease Of Bone
Paget Disease, Bone	Pdb
Pagets Bone Disease

Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis	Idiopathic Osteoporosis
Juvenile Osteoporosis	Ijo

Periodontitis

Chronic Pericementitis

Chronic Periodontitis

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Osteopetrosis, Autosomal Recessive 2

OPTB2	Autosomal Recessive Osteopetrosis 2
Osteopetrosis, Mild Autosomal Recessive Form	Osteoclast-Poor Osteopetrosis
Osteopetrosis, Osteoclast-Poor	Mild Autosomal Recessive Form Osteopetrosis
Osteopetrosis Autosomal Recessive 2	Autosomal Recessive Osteopetrosis Type 2
Osteopetrosis Osteoclast-Poor	Osteopetrosis, Autosomal Recessive, Type 2

Spondylolysis

Acquired Spondylolysis

Familial Expansile Osteolysis

FEO	Mccabe Disease
Osteolysis, Familial Expansile	Polyostotic Osteolytic Dysplasia, Hereditary Expansile
Hepod	Expansile Osteolysis, Familial
Eof	Hereditary Expansile Polyostotic Osteolytic Dysplasia

Cleidocranial Dysplasia

Cleidocranial Dysostosis	CLCD
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only	Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
CCD	Marie-Sainton Disease
Dysplasia Cleidocranial	Dento-Osseous Dysplasia
Marie-Sainton Syndrome	Dysplasia, Cleidocranial

Tooth Resorption

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-143714	Cathepsin K inhibitor 2	Inhibitor	/	Unkown
HY-155960	SH491		/	Unkown
HY-RS03337	CTSK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03338	Ctsk Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03339	Ctsk Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CTSK	VGNC	VGNC:39714
Bos taurus	CTSK	VGNC	VGNC:27817
Mus musculus	CTSK	MGD	MGI:107823
Rattus norvegicus	CTSK	RGD	RGD:61810
Felis catus	CTSK	VGNC	VGNC:61269
Macaca mulatta	CTSK	VGNC	VGNC:71559
Others	CTSK	NCBI