Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1513
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin K
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSK
Synonyms (NCBI Gene) Gene synonyms aliases
CTS02, CTSO, CTSO1, CTSO2, PKND, PYCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PKND
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs29001685 A>G Likely-pathogenic Coding sequence variant, missense variant
rs74315301 T>C Pathogenic Terminator codon variant, stop lost
rs74315302 C>G Pathogenic Missense variant, coding sequence variant
rs74315303 G>A,T Likely-pathogenic Stop gained, coding sequence variant, synonymous variant
rs74315304 G>A,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038461 hsa-miR-296-3p CLASH 23622248
MIRT915948 hsa-miR-23a CLIP-seq
MIRT915949 hsa-miR-23b CLIP-seq
MIRT915950 hsa-miR-23c CLIP-seq
MIRT915951 hsa-miR-3154 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
MITF Activation 21602817
SPI1 Unknown 15304486
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000422 Process Autophagy of mitochondrion HMP 24912190
GO:0001968 Function Fibronectin binding IPI 22952693
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004197 Function Cysteine-type endopeptidase activity IDA 22952693
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601105 2536 ENSG00000143387
Protein
UniProt ID P43235
Protein name Cathepsin K (EC 3.4.22.38) (Cathepsin O) (Cathepsin O2) (Cathepsin X)
Protein function Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix deg
PDB 1ATK , 1AU0 , 1AU2 , 1AU3 , 1AU4 , 1AYU , 1AYV , 1AYW , 1BGO , 1BY8 , 1MEM , 1NL6 , 1NLJ , 1Q6K , 1SNK , 1TU6 , 1U9V , 1U9W , 1U9X , 1VSN , 1YK7 , 1YK8 , 1YT7 , 2ATO , 2AUX , 2AUZ , 2BDL , 2R6N , 3C9E , 3H7D , 3KW9 , 3KWB , 3KWZ , 3KX1 , 3O0U , 3O1G , 3OVZ , 4DMX , 4DMY , 4N79 , 4N8W , 4X6H , 4X6I , 4X6J , 4YV8 , 4YVA , 5J94 , 5JA7 , 5JH3 , 5TDI , 5TUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08246 Inhibitor_I29 26 86 Cathepsin propeptide inhibitor domain (I29) Domain
PF00112 Peptidase_C1 115 328 Papain family cysteine protease Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in osteoclasts (bones) (PubMed:7805878). Expressed in thyroid epithelial cells (PubMed:11082042). {ECO:0000269|PubMed:11082042, ECO:0000269|PubMed:7805878}.
Sequence
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysosome
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
Rheumatoid arthritis
  Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Trafficking and processing of endosomal TLR
MHC class II antigen presentation
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 30664745
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 25356585
Unknown
Disease term Disease name Evidence References Source
Osteomyelitis Osteomyelitis ClinVar
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Acro Osteolysis Associate 24767306
Allergic Fungal Sinusitis Associate 33005006
Angiomyolipoma Associate 19060845, 25550868
Aortic Aneurysm Abdominal Associate 17322367, 22804761, 23958260, 24833013
Aortic Aneurysm Familial Abdominal 1 Inhibit 23958260
Arthritis Psoriatic Associate 18975331
Arthritis Rheumatoid Associate 10693863, 11920402, 35896699
Bone Cysts Aneurysmal Associate 22330339
Bone Diseases Associate 12568399, 18302508, 18678577, 25818344, 30199612, 36138018, 36696904, 8938428
Bone Diseases Metabolic Associate 24269275