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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTSK Gene

protein-coding GIFtS: 71
GCID: GC01M150768

cathepsin K

(Previous name: cathepsin K (pycnodysostosis) )
(Previous symbols: CTSO2, CTSO, PYCD)

Explore 65 diseases affiliated with
CTSK via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cathepsin K¹ ²		Cathepsin X² ³
CTSO¹ ² ³		EC 3.4.22.38³ ⁸
CTSO2¹ ² ³		Cathepsin K (Pycnodysostosis)¹
PKND¹ ²		CTS02²
PYCD¹ ²		CTSO1²
Cathepsin O² ³		Cathepsin O1²
Cathepsin O2² ³		EC 3.4.22⁸

External Ids:	HGNC: 2536¹	Entrez Gene: 1513²	Ensembl: ENSG00000143387⁷	OMIM: 601105⁵	UniProtKB: P43235³

Export aliases for CTSK gene to outside databases

Previous GC identifers: GC01M148610 GC01M146515 GC01M147543 GC01M147985 GC01M147581 GC01M149035 GC01M122146

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CTSK:

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. This gene may be subject to RNA editing. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: CATK_HUMAN, P43235

Function: Closely 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 degradation

summary for CTSK:

Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term

cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as

the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z). Most cathepsins are endopeptidases,

with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated

post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate

receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen

processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH.

The main function of cathepsins is protein recycling within the lysosome but they are also known to be

involved in a range of other physiological, as well as pathological processes, including maturation of the

MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis,

rheumatoid arthritis, osteoarthritis and atherosclerosis.

Gene Wiki entry for CTSK (Cathepsin K)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CTSK gene promoter:
Nkx3-1 Pax-5 AP-1 ATF-2 Nkx3-1 v1 GATA-1 Nkx3-1 v2 Nkx3-1 v3 c-Jun ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CTSK promoter sequence

Search SABiosciences Chromatin IP Primers for CTSK

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSK

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21

CTSK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTSK gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M150768: view genomic region (about GC identifiers)

Start:	150,768,684 bp from pter	End:	150,780,812 bp from pter
Size:	12,129 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CATK_HUMAN, P43235 (See protein sequence)

Recommended Name: Cathepsin K precursor

Size: 329 amino acids; 36966 Da

Subcellular location: Lysosome

6/40 PDB 3D structures from and Proteopedia for CTSK (see all 40):

1ATK (3D)

1AU0 (3D)

1AU2 (3D)

1AU3 (3D)

1AU4 (3D)

1AYU (3D)

Secondary accessions: Q6FHS6

Explore the universe of human proteins at neXtProt for CTSK: NX_P43235

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43235

4/21 DME Specific Peptides for CTSK (P43235) (see all 21)

PVSVAID

WELWKKT

LSPQNLV

QGQCGSC

CTSK Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000387.1

ENSEMBL proteins:

ENSP00000271651 ENSP00000405083

Reactome Protein details: P43235
Human Recombinant Protein Products for CTSK:

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	Novus Biologicals CTSK Proteins Novus Biologicals CTSK Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CTSK

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005764	lysosome	--	--
GO:0036021	endolysosome lumen	TAS	--

CTSK for ontologies About GeneDecksing

CTSK Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CTSK
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	Novus Biologicals CTSK Antibodies
	Abcam antibodies for CTSK
	Uscn Antibodies for CTSK
	ThermoFisher Antibodies for CTSK

Assay Products for CTSK:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript CTSK-Activity-based Protease Assay for Compound Screening
	Enzo Life Sciences assays for CTSK
	Uscn ELISAs and CLIAs for CTSK

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CTSK for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR013128 Peptidase_C1A

IPR025661 Pept_asp_AS

IPR015644 Peptidase_C1A_cathepsin-K

IPR000169 Pept_cys_AS

IPR013201 Prot_inhib_I29

Graphical View of Domain Structure for InterPro Entry P43235

ProtoNet protein and cluster: P43235

2 Blocks protein families:

IPB000668 Papain cysteine protease (C1) family signature

IPB013201 Proteinase inhibitor I29

UniProtKB/Swiss-Prot: CATK_HUMAN, P43235

Similarity: Belongs to the peptidase C1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CATK_HUMAN, P43235

Function: Closely 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 degradation

Catalytic activity: Broad proteolytic activity. With small-molecule substrates and inhibitors, the major determinant of

specificity is P2, which is preferably Leu, Met > Phe, and not Arg

Genatlas biochemistry entry for CTSK:

cathepsin K,lysosomal P cysteine proteinase,expressed in osteoclats and multinucleated and chondroclasts at the

osteochondral junction and the surfaces bone spicules,likely major protein in bone matrix resorption

Enzyme Numbers (IUBMB): EC 3.4.22.38¹ ² EC 3.4.22²

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	TAS	9143502
GO:0008234	cysteine-type peptidase activity	TAS	7818555

CTSK for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CTSK:

Increased cell number in G1, a

10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Ctsk):

craniofacial	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	limbs/digits/tail	other	respiratory system	skeleton

CTSK for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CTSK: Ctsk^tm1Vuo Ctsk^tm1Ypl Ctsk^tm1Psa Ctsk^tm1Mbs

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CTSK

miRNA Products:		OriGene 3'-UTR Clone: CTSK Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSK
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSK:
		hsa-miR-96* hsa-miR-9* hsa-miR-185 hsa-miR-4306 hsa-miR-767-5p hsa-miR-3652
		SwitchGear 3'UTR luciferase reporter plasmid: CTSK 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSK (see all 7) OriGene shRNA RFP: CTSK OriGene siRNA: CTSK
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSK
		Sirion Biotech Custom design and validation of potent shRNA sequences against CTSK

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CTSK
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSK (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSK (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CTSK (NM_000396)
		Sino Biological Human cDNA Clone for CTSK
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSK

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CTSK
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		Sirion Biotech Customized stable knockdown cell line services for CTSK Sirion Biotech Customized inducible knockdown cell line services for CTSK Sirion Biotech Customized stable overexpressing cell line services for CTSK Sirion Biotech Customized inducible overexpressing cell line services for CTSK

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSK

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune System

	Immune System	1.00			Innate Immune System	0.46
	Adaptive Immune System	0.59

Degradation of the extracellular matrix

	Degradation of the extracellular matrix	1.00			Activation of Matrix Metalloproteinases	0.40
	Degradation of collagen	0.79

Endostatin degradation by cathepsins

Endostatin degradation by cathepsins

1.00

MHC class II antigen presentation

MHC class II antigen presentation

1.00

Osteoclast Signaling

Osteoclast Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for CTSK

	RANKL/RANK Signaling Pathway
	Osteoclast Signaling

5/11 Reactome Pathways for CTSK (see all 11)

	Endostatin degradation by cathepsins
	Toll-Like Receptors Cascades
	Adaptive Immune System
	Degradation of collagen
	Activation of Matrix Metalloproteinases

4 Kegg Pathways (Kegg details for CTSK):

	Lysosome
	Osteoclast differentiation
	Toll-like receptor signaling pathway
	Rheumatoid arthritis

CTSK for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CTSK

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/25 Interacting proteins for CTSK (P43235³ ENSP00000271651⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SERPINB3	P29508³, ENSP00000283752⁴	I2D: score=2 STRING: ENSP00000283752
SPARC	P09486³, ENSP00000231061⁴	I2D: score=2 STRING: ENSP00000231061
KNG1	P01042³, ENSP00000265023⁴	I2D: score=1 STRING: ENSP00000265023
SERPINB13	Q9UIV8³, ENSP00000341584⁴	I2D: score=1 STRING: ENSP00000341584
FGFR3	P22607³	I2D: score=4

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001957	intramembranous ossification	IEA	--
GO:0006508	proteolysis	IEA	--
GO:0045087	innate immune response	TAS	--
GO:0045453	bone resorption	IEA	--

CTSK for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CTSK for compounds About GeneDecksing

EMD Millipore small molecules for CTSK:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for CTSK available from Tocris Bioscience About this table

Compound	Action	CAS #
MDL 28170	Potent, selective calpain and cathepsin B inhibitor	[88191-84-8]
L 006235	Potent cathepsin K inhibitor	[294623-49-7]

10/17 DrugBank Compounds for CTSK (see all 17) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
1,5-Bis(N-Benzyloxycarbonyl-L-Leucinyl)Carbohydrazide	--	--	target	--	17139284 17016423 10592235
1-[2-(3-Biphenyl)-4-Methylvaleryl)]Amino-3-(2-Pyridylsulfonyl)Amino-2-Propanone	--	--	target	--	17139284 17016423 10592235
1-[N[(Phenylmethoxy)Carbonyl]-L-Leucyl-4-[[N/N-[(Phenylmethoxy)Carbonyl]-/Nl-Leucyl]Amino]-3-Pyrrolidinone/N	--	--	target	--	17139284 17016423 10592235
Benzofuran-2-Carboxylic Acid {(S)-3-Methyl-1-[3-Oxo-1-(Pyridin-2-Ylsulfonyl)Azepan-4-Ylcarbamoyl]Butyl}Amide	--	--	target	--	17139284 17016423 10592235
(1R)-2-METHYL-1-(PHENYLMETHYL)PROPYL[(1S)-1-FORMYLPENTYL]CARBAMATE	--	--	target	--	10592235
(1R,2R)-N-(2-AMINOETHYL)-2-{[(4-METHOXYPHENYL)SULFONYL]METHYL}CYCLOHEXANECARBOXAMIDE	--	--	target	--	10592235
1-(PHENYLMETHYL)CYCLOPENTYL[(1S)-1-FORMYLPENTYL]CARBAMATE	--	--	target	--	10592235
1-{7-cyclohexyl-6-[4-(4-methylpiperazin-1-yl)benzyl]-7H-pyrrolo[2,3-d]pyrimidin-2-yl}methanamine	--	--	target	--	10592235
3-Amino-5-Phenylpentane	--	--	target	--	10592235
6-(CYCLOHEXYLAMINO)-9-[2-(4-METHYLPIPERAZIN-1-YL)-ETHYL]-9H-PURINE-2-CARBONITRILE	--	--	target	--	10592235

10/32 Novoseek chemical compound relationships for CTSK gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine	83	138	9143502 (3), 8567669 (2), 15906014 (2), 7818555 (2) (see all 99)
trifluoroethylamine	73.6	1	16921579 (1)
scca1	63.2	3	9548757 (1), 14630915 (1), 11863458 (1)
zoledronic acid	60.4	5	12538482 (1), 18379023 (1), 17728092 (1)
n-(2-hydroxypropyl)methacrylamide	56.6	6	17092842 (1), 19381291 (1), 17018400 (1), 18401866 (1)
teriparatide	56.5	1	18310826 (1)
strontium ranelate	55.7	1	18310826 (1)
actinidin	54.9	1	10380357 (1)
nitrile	46.4	8	19117756 (3), 17157022 (2), 17544269 (1), 12904076 (1) (see all 5)
tartrate	45.5	5	20186669 (1), 19144471 (1)

Search CenterWatch for drugs/clinical trials and news about CTSK / CATK

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CTSK gene:

NM_000396.3

Unigene Cluster for CTSK:

Cathepsin K

Hs.632466 [show with all ESTs]

Unigene Representative Sequence: NM_000396

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000271651(uc001evp.2 uc009wma.2) ENST00000480670 ENST00000443913

miRNA Products:		OriGene 3'-UTR Clone: CTSK Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-96* hsa-miR-9* hsa-miR-185 hsa-miR-4306 hsa-miR-767-5p hsa-miR-3652
		SwitchGear 3'UTR luciferase reporter plasmid: CTSK 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: CTSK (NM_000396)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSK
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSK

Additional cDNA sequence:

AK130134.1 AK312880.1 AY429530.1 BC016058.1 CR541675.1 CR541719.1 S79895.1 U13665.1

U20280.1

16 DOTS entries:

DT.100789242 DT.446983 DT.40248783 DT.100789233 DT.100789245 DT.121411815 DT.95370668 DT.95370669

DT.121411805 DT.121411818 DT.121411824 DT.121411826 DT.91750964 DT.91750980 DT.121411810 DT.92042269

24/688 AceView cDNA sequences (see all 688):

CA441899 BM680457 BQ581494 CR598542 CA449182 CR626559 NM_001668 BQ019537

AI299433 AI161330 CR601270 BG760260 BI010164 BM955676 BQ004726 W56808

AI631276 BE502224 BM669029 AI074954 AU099408 CA421538 BU618271 BM894519

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CTSK (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9	^	10
SP1:									-
SP2:									-
SP3:									-						-		-		-
SP4:									-
SP5:

ECgene alternative splicing isoforms for CTSK

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CTSK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATAAAAAGAA

About this image

CTSK expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

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HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

See CTSK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CTSK

SOURCE GeneReport for Unigene cluster: Hs.632466

UniProtKB/Swiss-Prot: CATK_HUMAN, P43235

Tissue specificity: Predominantly expressed in osteoclasts (bones)

SABiosciences Expression via Pathway-Focused PCR Arrays including CTSK (see all 6):

Osteogenesis in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Wound Healing in human mouse rat

Tumor Metastasis in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSK gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CTSK¹	cathepsin K	66.67(n) 72.36(a)		395818 NM_204971.1 NP_990302.1
lizard (Anolis carolinensis)	Reptilia	CTSK⁶	--	85(a)	1 ↔ 1	GL343862.1(1635-8701)
zebrafish (Danio rerio)	Actinopterygii	wufb08b05²	Transcribed sequence with weak similarity to protein more	72.85(n)		57037394
fruit fly (Drosophila melanogaster)	Insecta	Cp1³	protein catabolism cathepsin L	47(a) (best of 4)		--
worm (Caenorhabditis elegans)	Secernentea	cpl-1³	cathepsin-like protease	46(a) (best of 3)		V(16595339-16597937) --
thale cress (Arabidopsis thaliana)	eudicotyledons	XCP2¹	Xylem cysteine proteinase 2	50.66(n) 45.36(a)		838677 NM_101938.4 NP_564126.1
rice (Oryza sativa)	Liliopsida	Os01g0971400¹	hypothetical protein	51.67(n) 46.6(a)		4323845 NM_001052068.1 NP_001045533.2

ENSEMBL Gene Tree for CTSK (if available)
TreeFam Gene Tree for CTSK (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CTSK gene

TINAG² CTSL1² CTSF² CTSO² CTSW² CTSB² CTSS² CTSL2²

CTSH² CTSC² TINAGL1² CTSZ²

8 SIMAP similar genes for CTSK using alignment to 5 protein entries: CATK_HUMAN (see all proteins):

CTSL CTSS DKFZp686B24257 CTSL1 CTSL2 CTSH

CTSO CTSF

CTSK for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315301^1,2	C	pathogenic	122146900(-)	`ATGTGA/GCTCCA`	2	* W	--		0	--	--	--	--
rs29001685^1,2	C	pathogenic	122146964(-)	`TATCCC/TCATGG`	2	P L	mis¹		0	--	--	--	--
rs74315304^1,2	C	pathogenic	122149329(-)	`CCATGC/TGGTTT`	2	A V	mis¹		0	--	--	--	--
rs74315303^1,2	C	pathogenic	122149708(-)	`TGGCCA/C/TGAGTG`	3	R *	syn¹ stg¹		1		NA	4552
rs74315302^1,2	C	pathogenic	122154315(-)	`CTGTGC/GGTGCC`	2	R G	mis¹		0	--	--	--	--
rs74315305^1,2	C	pathogenic	122156221(-)	`CCTGGA/GGGACA`	2	E G	mis¹		0	--	--	--	--
rs74315306^1,2	C	pathogenic	122156303(-)	`GGGAAA/TAAAAC`	2	K *	stg¹		0	--	--	--	--
rs12137357^1,2	C	--	122145869(+)	`ACTTAG/AGAGAC`	1	--	ds500¹		2		NA	4
rs74650872^1,2	C	--	122145970(+)	`CTGACG/AAAAGA`	1	--	ds500¹		2		NA	122
rs113705060^1,2		--	122146017(+)	`AATAAC/ACTTAA`	1	--	ds500¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for CTSK (150768684 - 150780812 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CTSK
2 CNVs: 1336 5522
Human Gene Mutation Database (HGMD): CTSK

Locus Specific Mutation Databases (LSDB): CTSK

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CTSK for disorders           About GeneDecksing

OMIM gene information: 601105
OMIM disorders: 265800
UniProtKB/Swiss-Prot: CATK_HUMAN, P43235

Defects in CTSK are the cause of pycnodysostosis (PKND) [MIM:265800]. PKND is an autosomal recessive

osteochondrodysplasia characterized by osteosclerosis and short stature

20/65 diseases for CTSK (see all 65): About MalaCards

pycnodysostosis short stature rheumatoid arthritis osteosclerosis

autosomal recessive disease osteoarthritis breast cancer arthritis

atherosclerosis osteoporosis, postmenopausal root resorption dermatofibrosarcoma protuberans

giant cell tumor osteochondrodysplasia al amyloidosis squamous cell carcinoma

dermatofibrosarcoma ankylosing spondylitis bronchopulmonary dysplasia osteomyelitis

6 diseases from the University of Copenhagen DISEASES database for CTSK:

Pycnodysostosis Osteoporosis Osteopetrosis Arthritis

Root resorption Giant cell tumor

10/43 Novoseek disease relationships for CTSK gene (see all 43) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pycnodysostosis	94.3	57	20305575 (4), 11331755 (3), 12874701 (3), 19674475 (3) (see all 26)
k deficiency	79.8	12	12874701 (2), 17891524 (1), 10571690 (1), 18239112 (1) (see all 11)
osteoporosis	74.4	46	19943223 (2), 15456248 (2), 16699068 (2), 16375747 (2) (see all 37)
osteopetrosis	72	10	11331755 (2), 10491212 (1), 11699297 (1), 17210673 (1) (see all 7)
bone destruction	70.1	8	18240253 (3), 12568399 (1), 17321485 (1), 15801030 (1) (see all 5)
osteoclastoma	68.8	5	7576232 (3), 8647859 (1)
osteolytic	65.3	5	12538482 (1), 15642144 (1), 17942921 (1), 18685424 (1) (see all 5)
osteosclerosis	64.8	2	14753734 (1), 18302508 (1)
osteolysis	63	8	15277232 (2), 17942921 (1), 17729302 (1), 18685424 (1) (see all 6)
skeletal dysplasia	60.3	5	10571690 (1), 20305575 (1), 9529353 (1), 17397052 (1)

Genetic Association Database (GAD): CTSK
Human Genome Epidemiology (HuGE) Navigator: CTSK (9 documents)

Export disorders for CTSK gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CTSK gene, integrated from 9 sources (see all 425):
(articles sorted by number of sources associating them with CTSK)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. (PubMed id 7818555)^{1, 2, 3, 9} Inaoka T.... Kokubo T. (1995)
Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland. (PubMed id 14753734)^{1, 4, 9} Giraudeau F.S....Wood J. (2004)
Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution. (PubMed id 7576232)^{1, 2, 9} Broemme D. and Okamoto K. (1995)
The crystal structure of human procathepsin K. (PubMed id 9893980)^{1, 2, 9} LaLonde J.M.... Smith W.W. (1999)
Crystal structure of wild-type human procathepsin K. (PubMed id 10048321)^{1, 2, 9} Sivaraman J.... Cygler M. (1999)
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. (PubMed id 9529353)^{1, 2, 9} Gelb B.D.... Desnick R.J. (1998)
Design of potent and selective human cathepsin K inhibitors that span the active site. (PubMed id 9405598)^{1, 2, 9} Thompson S.K.... Veber D.F. (1997)
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. (PubMed id 8703060)^{1, 2, 9} Gelb B.D.... Desnick R.J. (1996)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. (PubMed id 10878663)^{1, 2} Haagerup A.... Kruse T.A. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1513	HGNC: 2536	AceView: CTSKandARNT	Ensembl:ENSG00000143387	euGenes: HUgn1513
ECgene: CTSK	Kegg: 1513	H-InvDB: CTSK

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CTSK	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CTSK	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSK

Intellectual Property for CTSK gene
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Patent Information for CTSK gene:
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GeneCards and IP:
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cathepsin K

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