Ctsk MGI Mouse Gene Detail - MGI:107823 - cathepsin K

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Ctsk Gene Detail

Symbol

Ctsk
Name

cathepsin K
Synonyms

catK, Cat K

Feature Type

protein coding gene
IDs

MGI:107823
NCBI Gene: 13038
Alliance

gene page
Transcription Start Sites

8 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr3:95406567-95416673 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 40.74 cM
Mapping Data

6 experiments

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SNPs within 2kb

341 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_107823	protein coding gene	Chr3:95406521-95416698 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027585	protein coding gene	Chr3:96232169-96249997 (+)
A/J	MGP_AJ_G0027544	protein coding gene	Chr3:93247452-93257436 (+)
AKR/J	MGP_AKRJ_G0027511	protein coding gene	Chr3:95418288-95428287 (+)
BALB/cJ	MGP_BALBcJ_G0027556	protein coding gene	Chr3:93027826-93037856 (+)
C3H/HeJ	MGP_C3HHeJ_G0027289	protein coding gene	Chr3:95706142-95717437 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028004	protein coding gene	Chr3:99797787-99809616 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025344	protein coding gene	Chr3:89580750-89591354 (+)
CAST/EiJ	MGP_CASTEiJ_G0026739	protein coding gene	Chr3:94968595-94984816 (+)
CBA/J	MGP_CBAJ_G0027266	protein coding gene	Chr3:103447190-103459288 (+)
DBA/2J	MGP_DBA2J_G0027405	protein coding gene	Chr3:92534601-92544603 (+)
FVB/NJ	MGP_FVBNJ_G0027376	protein coding gene	Chr3:90613058-90623291 (+)
LP/J	MGP_LPJ_G0027514	protein coding gene	Chr3:97548307-97558172 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027403	protein coding gene	Chr3:109550181-109562193 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028058	protein coding gene	Chr3:95056345-95066343 (+)
PWK/PhJ	MGP_PWKPhJ_G0026467	protein coding gene	Chr3:92419087-92429583 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026288	protein coding gene	Chr3:93341236-93353025 (+)
WSB/EiJ	MGP_WSBEiJ_G0026821	protein coding gene	Chr3:95446188-95456694 (+)

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Human Ortholog

CTSK, cathepsin K

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CTSK, cathepsin K
Synonyms

CTS02, CTSO, CTSO1, CTSO2, PKND, PYCD
Links

HGNC:2536

NCBI Gene ID: 1513

neXtProt AC: NX_P43235

UniProt: P43235
Chr Location

1q21.3; chr1:150794880-150809577 (-) GRCh38

MGI Vertebrate Homology

Ctsk stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CTSK
Gene Tree

Ctsk

more

Diseases

1 with human CTSK associations

				Human Disease	Mouse Models
				pycnodysostosis IDs pycnodysostosis DOID:0080038 MESH:D058631 OMIM:265800 ORDO:763

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

57 phenotypes from 6 alleles in 10 genetic backgrounds
46 phenotypes from multigenic genotypes
9 images
150 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

24
Chemically induced (other)

1
Endonuclease-mediated

9
Radiation induced

1
Targeted

13
Genomic Mutations

2 involving Ctsk
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis.

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All GO Annotations

42
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

874
Tissues

98
cDNA Data

90
Literature Summary

32

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ctsk

ZFIN ctsk

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All Sequences

33
RefSeq

2
UniProt

2
CCDS

CCDS17615.1

Ensembl

ENSMUSG00000028111 (Evidence)
NCBI Gene

13038

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000028111	Ensembl Gene Model \| MGI Sequence Detail	10107	C57BL/6J	± kb
	transcript	ENSMUST00000015664	Ensembl \| MGI Sequence Detail	1512	Not Applicable
	polypeptide	ENSMUSP00000015664	Ensembl \| MGI Sequence Detail	329	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000001850 cathepsin K

(term hierarchy)
PDB

5T6U, 6BKI
EC

3.4.22.38
InterPro Domains

IPR013201 Cathepsin propeptide inhibitor domain (I29)

IPR000169 Cysteine peptidase, cysteine active site

IPR025660 Cysteine peptidase, histidine active site

IPR039417 Papain-like cysteine endopeptidase

IPR038765 Papain-like cysteine peptidase superfamily

IPR013128 Peptidase C1A

IPR000668 Peptidase C1A, papain C-terminal
GlyGen

P55097 2 sites

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All nucleic 100

Genomic 2

cDNA 91

Primer pair 7

Microarray probesets 2

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MGD-MRK-36400, MGI:2139671

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Summaries

All 237

Developmental Gene Expression 32

Diseases 2

Gene Ontology 10

Phenotypes 150
Earliest

J:35370 Rantakokko J, et al., Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development. FEBS Lett. 1996 Sep 16;393(2-3):307-13
Latest

J:349716 Sandor LF, et al., De novo steroidogenesis in tumor cells drives bone metastasis and osteoclastogenesis. Cell Rep. 2024 Mar 13;43(3):113936

TSS for Ctsk:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr30555	Chr3:95406528-95406531 (+)	-37 bp
Tssr30556	Chr3:95406534-95406540 (+)	-30 bp
Tssr30557	Chr3:95406567-95406576 (+)	5 bp
Tssr30558	Chr3:95406584-95406600 (+)	25 bp
Tssr30559	Chr3:95407103-95407122 (+)	546 bp
Tssr30560	Chr3:95407167-95407179 (+)	606 bp
Tssr30561	Chr3:95407202-95407207 (+)	638 bp
Tssr30562	Chr3:95409834-95409862 (+)	3,281 bp

Ctsk is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Cia5	Chr3, 37.01 cM	Chr3:83046658-83046795	J:81372	Microarray gene expression analysis was used to identify candidate genes for QTLs associated with collagen-induced arthritis. RNA from inflamed paws of collagen-treated mice were used in the microarray analysis and compared to RNA from normal paws. 223 genes showed a four-fold or greater expression difference between inflamed and normal paws. Nine of these genes are located near previously identified arthritis severity/susceptibility QTLs and may be considered for candidates. For Cia1 on mouse Chromosome 17 (18.6 cM near the H2 locus) differential expression was observed for H2-Eb1 (18.66 cM) and H2-T23 (19.73 cM). For Cia2 and Cia4 on mouse Chromosome 2 (both are located at 34 cM) differential expression was observed for Fap (36 cM) and Gcg (36 cM). For Cia3 (48.7 cM) and Cia6 (30 cM) on mouse Chromosome 6 differential expression was observed for Raf1 (52.5 cM) and Slc6a6 (38.2 cM), respectively. For Cia5 (40 cM) on mouse Chromosome 4 differential expression was observed for Ctsk (47.9 cM) and Cd53(50.5 cM). For Cia8 (40.4 cM) on mouse Chromosome 10 differential expression was observed for Bsg (42.4 cM).

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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