CTSK | ENSG00000143387 | NCBI 1513

Details for: CTSK

Gene ID: 1513

Symbol: CTSK

Ensembl ID: ENSG00000143387

Description: cathepsin K

Associated with

Activation of matrix metalloproteinases
(R-HSA-1592389)
Adaptive immune system
(R-HSA-1280218)
Collagen degradation
(R-HSA-1442490)
Degradation of the extracellular matrix
(R-HSA-1474228)
Extracellular matrix organization
(R-HSA-1474244)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Mhc class ii antigen presentation
(R-HSA-2132295)
Rna polymerase ii transcription
(R-HSA-73857)
Runx1 regulates transcription of genes involved in differentiation of keratinocytes
(R-HSA-8939242)
Toll-like receptor cascades
(R-HSA-168898)
Trafficking and processing of endosomal tlr
(R-HSA-1679131)
Transcriptional regulation by runx1
(R-HSA-8878171)
Apical plasma membrane
(GO:0016324)
Apoptotic process
(GO:0006915)
Bone resorption
(GO:0045453)
Cellular response to transforming growth factor beta stimulus
(GO:0071560)
Cellular response to tumor necrosis factor
(GO:0071356)
Cellular response to zinc ion starvation
(GO:0034224)
Collagen binding
(GO:0005518)
Collagen catabolic process
(GO:0030574)
Cysteine-type endopeptidase activator activity involved in apoptotic process
(GO:0008656)
Cysteine-type endopeptidase activity
(GO:0004197)
Cysteine-type peptidase activity
(GO:0008234)
Endolysosome lumen
(GO:0036021)
External side of plasma membrane
(GO:0009897)
Extracellular matrix disassembly
(GO:0022617)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Fibronectin binding
(GO:0001968)
Immune response
(GO:0006955)
Intracellular membrane-bounded organelle
(GO:0043231)
Intramembranous ossification
(GO:0001957)
Lysosomal lumen
(GO:0043202)
Lysosome
(GO:0005764)
Mitophagy
(GO:0000423)
Mononuclear cell differentiation
(GO:1903131)
Negative regulation of cartilage development
(GO:0061037)
Nucleoplasm
(GO:0005654)
Positive regulation of apoptotic signaling pathway
(GO:2001235)
Positive regulation of peptidase activity
(GO:0010952)
Protein binding
(GO:0005515)
Proteoglycan binding
(GO:0043394)
Proteolysis
(GO:0006508)
Proteolysis involved in protein catabolic process
(GO:0051603)
Response to ethanol
(GO:0045471)
Response to insulin
(GO:0032868)
Response to organic cyclic compound
(GO:0014070)
Serine-type endopeptidase activity
(GO:0004252)
Thyroid hormone generation
(GO:0006590)

Other Information

Proteins

Cathepsin K

Genular Protein ID: 503677176

Symbol: CATK_HUMAN

Name: Cathepsin K

UniProtKB Accession Codes:

P43235 Q6FHS6

Database IDs:

Citations:

PubMed ID: 7805878

Title: Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2.

PubMed ID: 7805878

DOI: 10.1016/0014-5793(94)01349-6

PubMed ID: 7818555

Title: Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone.

PubMed ID: 7818555

DOI: 10.1006/bbrc.1995.1013

PubMed ID: 8585423

Title: Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas.

PubMed ID: 8585423

DOI: 10.1002/jbmr.5650100809

PubMed ID: 7576232

Title: Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution.

PubMed ID: 7576232

DOI: 10.1515/bchm3.1995.376.6.379

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11082042

Title: Cathepsin K in thyroid epithelial cells: sequence, localization and possible function in extracellular proteolysis of thyroglobulin.

PubMed ID: 11082042

DOI: 10.1242/jcs.113.24.4487

PubMed ID: 9033587

Title: Crystal structure of human cathepsin K complexed with a potent inhibitor.

PubMed ID: 9033587

DOI: 10.1038/nsb0297-105

PubMed ID: 9405598

Title: Design of potent and selective human cathepsin K inhibitors that span the active site.

PubMed ID: 9405598

DOI: 10.1073/pnas.94.26.14249

PubMed ID: 9893980

Title: The crystal structure of human procathepsin K.

PubMed ID: 9893980

DOI: 10.1021/bi9822271

PubMed ID: 10048321

Title: Crystal structure of wild-type human procathepsin K.

PubMed ID: 10048321

DOI: 10.1110/ps.8.2.283

PubMed ID: 8703060

Title: Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

PubMed ID: 8703060

DOI: 10.1126/science.273.5279.1236

PubMed ID: 9529353

Title: Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

PubMed ID: 9529353

DOI: 10.1086/301795

PubMed ID: 10491211

Title: Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.

PubMed ID: 10491211

DOI: 10.1359/jbmr.1999.14.10.1649

PubMed ID: 10878663

Title: Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.

PubMed ID: 10878663

DOI: 10.1038/sj.ejhg.5200481

PubMed ID: 22822386

Title: Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.

PubMed ID: 22822386

DOI: 10.1159/000336581

PubMed ID: 25731711

Title: Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

PubMed ID: 25731711

DOI: 10.1177/0022034515573964

Sequence Information:

Length: 329
Mass: 36966
Checksum: 4677C3C89FF4CE85
Sequence:

MWGLKVLLLP VVSFALYPEE ILDTHWELWK KTHRKQYNNK VDEISRRLIW EKNLKYISIH 
NLEASLGVHT YELAMNHLGD MTSEEVVQKM TGLKVPLSHS RSNDTLYIPE WEGRAPDSVD 
YRKKGYVTPV KNQGQCGSCW AFSSVGALEG QLKKKTGKLL NLSPQNLVDC VSENDGCGGG 
YMTNAFQYVQ KNRGIDSEDA YPYVGQEESC MYNPTGKAAK CRGYREIPEG NEKALKRAVA 
RVGPVSVAID ASLTSFQFYS KGVYYDESCN SDNLNHAVLA VGYGIQKGNK HWIIKNSWGE 
NWGNKGYILM ARNKNNACGI ANLASFPKM

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CTSK

Associated with

Other Information

Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2. PubMed ID: 7805878

Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. PubMed ID: 7818555

Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas. PubMed ID: 8585423

Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution. PubMed ID: 7576232

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Cathepsin K in thyroid epithelial cells: sequence, localization and possible function in extracellular proteolysis of thyroglobulin. PubMed ID: 11082042

Crystal structure of human cathepsin K complexed with a potent inhibitor. PubMed ID: 9033587

Design of potent and selective human cathepsin K inhibitors that span the active site. PubMed ID: 9405598

The crystal structure of human procathepsin K. PubMed ID: 9893980

Crystal structure of wild-type human procathepsin K. PubMed ID: 10048321

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. PubMed ID: 8703060

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. PubMed ID: 9529353

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. PubMed ID: 10491211

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. PubMed ID: 10878663

Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. PubMed ID: 22822386

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations. PubMed ID: 25731711