CTSK - cathepsin K Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1513

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

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

Peptidase_C1

Peptidase_C1: Papain family cysteine protease (116 - 327)

  • 0
  • 100
  • 200
  • 300
  • 329 a.a.
Protein Preferred Names Protein Names

cathepsin K

  • cathepsin O

  • cathepsin O1

  • cathepsin O2

  • cathepsin X

CTSK Antibodies

Cat. No. Product Name Application Reactivity
HY-P81163 Cathepsin K Antibody WB, ELISA, IHC-P, IHC-F, ICC/IF Rat
HY-P82802 Cathepsin L/V/K/H Antibody (YA2547) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

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