Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CTSK (cathepsin K)

Identity

Alias_namesCTSO2
CTSO
PYCD
cathepsin K (pycnodysostosis)
Alias_symbol (synonym)PKND
Other aliasCTS02
CTSO1
HGNC (Hugo) CTSK
LocusID (NCBI) 1513
Atlas_Id 40207
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 150796208 and ends at 150808441 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ANP32E (1q21.2) / CTSK (1q21.3)ARNT (1q21.3) / CTSK (1q21.3)CTSK (1q21.3) / CTSK (1q21.3)
ANP32E 1q21.2 / CTSK 1q21.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  ANP32E/CTSK (1q21)


External links

Nomenclature
HGNC (Hugo)CTSK   2536
Cards
Entrez_Gene (NCBI)CTSK  1513  cathepsin K
AliasesCTS02; CTSO; CTSO1; CTSO2; 
PKND; PYCD
GeneCards (Weizmann)CTSK
Ensembl hg19 (Hinxton)ENSG00000143387 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143387 [Gene_View]  ENSG00000143387 [Sequence]  chr1:150796208-150808441 [Contig_View]  CTSK [Vega]
ICGC DataPortalENSG00000143387
TCGA cBioPortalCTSK
AceView (NCBI)CTSK
Genatlas (Paris)CTSK
WikiGenes1513
SOURCE (Princeton)CTSK
Genetics Home Reference (NIH)CTSK
Genomic and cartography
GoldenPath hg38 (UCSC)CTSK  -     chr1:150796208-150808441 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTSK  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblCTSK - 1q21.3 [CytoView hg19]  CTSK - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBICTSK [Mapview hg19]  CTSK [Mapview hg38]
OMIM265800   601105   
Gene and transcription
Genbank (Entrez)AK130134 AK308229 AK312880 AU118043 AU119985
RefSeq transcript (Entrez)NM_000396
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CTSK
Cluster EST : UnigeneHs.632466 [ NCBI ]
CGAP (NCI)Hs.632466
Alternative Splicing GalleryENSG00000143387
Gene ExpressionCTSK [ NCBI-GEO ]   CTSK [ EBI - ARRAY_EXPRESS ]   CTSK [ SEEK ]   CTSK [ MEM ]
Gene Expression Viewer (FireBrowse)CTSK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1513
GTEX Portal (Tissue expression)CTSK
Human Protein AtlasENSG00000143387-CTSK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43235   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43235  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43235
Splice isoforms : SwissVarP43235
Catalytic activity : Enzyme3.4.22.38 [ Enzyme-Expasy ]   3.4.22.383.4.22.38 [ IntEnz-EBI ]   3.4.22.38 [ BRENDA ]   3.4.22.38 [ KEGG ]   
PhosPhoSitePlusP43235
Domaine pattern : Prosite (Expaxy)THIOL_PROTEASE_ASN (PS00640)    THIOL_PROTEASE_CYS (PS00139)    THIOL_PROTEASE_HIS (PS00639)   
Domains : Interpro (EBI)Pept_asp_AS    Pept_cys_AS    Pept_his_AS    Peptidase_C1A    Peptidase_C1A_C    Peptidase_C1A_cathepsin-K    Prot_inhib_I29   
Domain families : Pfam (Sanger)Inhibitor_I29 (PF08246)    Peptidase_C1 (PF00112)   
Domain families : Pfam (NCBI)pfam08246    pfam00112   
Domain families : Smart (EMBL)Inhibitor_I29 (SM00848)  Pept_C1 (SM00645)  
Conserved Domain (NCBI)CTSK
DMDM Disease mutations1513
Blocks (Seattle)CTSK
PDB (SRS)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    7PCK   
PDB (PDBSum)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    7PCK   
PDB (IMB)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    7PCK   
PDB (RSDB)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    7PCK   
Structural Biology KnowledgeBase1ATK    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    7PCK   
SCOP (Structural Classification of Proteins)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    7PCK   
CATH (Classification of proteins structures)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    7PCK   
SuperfamilyP43235
Human Protein Atlas [tissue]ENSG00000143387-CTSK [tissue]
Peptide AtlasP43235
HPRD03064
IPIIPI00300599   IPI00930391   IPI00514633   
Protein Interaction databases
DIP (DOE-UCLA)P43235
IntAct (EBI)P43235
FunCoupENSG00000143387
BioGRIDCTSK
STRING (EMBL)CTSK
ZODIACCTSK
Ontologies - Pathways
QuickGOP43235
Ontology : AmiGOautophagy of mitochondrion  intramembranous ossification  fibronectin binding  cysteine-type endopeptidase activity  cysteine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  collagen binding  extracellular region  extracellular space  extracellular space  nucleoplasm  lysosome  proteolysis  cysteine-type peptidase activity  extracellular matrix disassembly  collagen catabolic process  collagen catabolic process  endolysosome lumen  lysosomal lumen  intracellular membrane-bounded organelle  proteoglycan binding  bone resorption  regulation of keratinocyte differentiation  proteolysis involved in cellular protein catabolic process  proteolysis involved in cellular protein catabolic process  negative regulation of cartilage development  
Ontology : EGO-EBIautophagy of mitochondrion  intramembranous ossification  fibronectin binding  cysteine-type endopeptidase activity  cysteine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  collagen binding  extracellular region  extracellular space  extracellular space  nucleoplasm  lysosome  proteolysis  cysteine-type peptidase activity  extracellular matrix disassembly  collagen catabolic process  collagen catabolic process  endolysosome lumen  lysosomal lumen  intracellular membrane-bounded organelle  proteoglycan binding  bone resorption  regulation of keratinocyte differentiation  proteolysis involved in cellular protein catabolic process  proteolysis involved in cellular protein catabolic process  negative regulation of cartilage development  
Pathways : KEGGLysosome    Osteoclast differentiation    Toll-like receptor signaling pathway    Rheumatoid arthritis   
NDEx NetworkCTSK
Atlas of Cancer Signalling NetworkCTSK
Wikipedia pathwaysCTSK
Orthology - Evolution
OrthoDB1513
GeneTree (enSembl)ENSG00000143387
Phylogenetic Trees/Animal Genes : TreeFamCTSK
HOVERGENP43235
HOGENOMP43235
Homologs : HomoloGeneCTSK
Homology/Alignments : Family Browser (UCSC)CTSK
Gene fusions - Rearrangements
Fusion : MitelmanANP32E/CTSK [1q21.2/1q21.3]  [t(1;1)(q21;q21)]  
Fusion PortalANP32E 1q21.2 CTSK 1q21.3 OV
Fusion : QuiverCTSK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTSK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTSK
dbVarCTSK
ClinVarCTSK
1000_GenomesCTSK 
Exome Variant ServerCTSK
ExAC (Exome Aggregation Consortium)ENSG00000143387
GNOMAD BrowserENSG00000143387
Varsome BrowserCTSK
Genetic variants : HAPMAP1513
Genomic Variants (DGV)CTSK [DGVbeta]
DECIPHERCTSK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCTSK 
Mutations
ICGC Data PortalCTSK 
TCGA Data PortalCTSK 
Broad Tumor PortalCTSK
OASIS PortalCTSK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTSK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTSK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CTSK
DgiDB (Drug Gene Interaction Database)CTSK
DoCM (Curated mutations)CTSK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTSK (select a term)
intoGenCTSK
Cancer3DCTSK(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM265800    601105   
Orphanet571   
DisGeNETCTSK
MedgenCTSK
Genetic Testing Registry CTSK
NextProtP43235 [Medical]
TSGene1513
GENETestsCTSK
Target ValidationCTSK
Huge Navigator CTSK [HugePedia]
snp3D : Map Gene to Disease1513
BioCentury BCIQCTSK
ClinGenCTSK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1513
Chemical/Pharm GKB GenePA27034
Clinical trialCTSK
Miscellaneous
canSAR (ICR)CTSK (select the gene name)
Probes
Litterature
PubMed168 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTSK
EVEXCTSK
GoPubMedCTSK
iHOPCTSK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:00:54 CET 2018

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