1. Gene
  2. CTSK - cathepsin K Gene

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

CTSK Protein Structure

Inhibitor_I29

Inhibitor_I29: Cathepsin propeptide inhibitor domain (I29) (26 - 85)

Peptidase_C1

Peptidase_C1: Papain family cysteine protease (116 - 327)

  • 0
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  • 200
  • 300
  • 329 a.a.
Protein Preferred Names Protein Names

cathepsin K

cathepsin O

cathepsin O1

cathepsin O2

cathepsin X

Recombinant CTSK Proteins

Cat. No. Product Name Accession Purity
HY-P72156 Cathepsin K Protein, Human (His) P43235 (A115-M329) ≥95%

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

MC

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
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

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