Endometriosis Knowledgebase

Search Result

Gene id

1508

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CTSB Gene UCSC Ensembl

Aliases

APPS, CPSB

Gene name

cathepsin B

Alternate names

cathepsin B, APP secretase, amyloid precursor protein secretase, cathepsin B1, cysteine protease,

Gene location

8p23.1 (11868149: 11842523) Exons: 16 NC_000008.11

Gene summary(Entrez)

This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]

OMIM

116810

Protein Summary

Protein general information

P07858

Name: Cathepsin B (EC 3.4.22.1) (APP secretase) (APPS) (Cathepsin B1) [Cleaved into: Cathepsin B light chain; Cathepsin B heavy chain]

Length: 339 Mass: 37,822

Sequence

MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFT
EDLKLPASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGC
NGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHY
GYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSW
NTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQYWEKI

Structural information

Interpro:	IPR025661 IPR000169 IPR025660 IPR013128 IPR000668 IPR015643 IPR012599
Prosite:	PS00640 PS00139 PS00639
Pfam:	PF00112 PF08127
PDB:	1CSB 1GMY 1HUC 1PBH 2IPP 2PBH 3AI8 3CBJ 3CBK 3K9M 3PBH
PDBsum:	1CSB 1GMY 1HUC 1PBH 2IPP 2PBH 3AI8 3CBJ 3CBK 3K9M 3PBH
DIP:	42785
MINT:	1397666
STRING:	ENSP00000342070;

Other Databases

GeneCards: CTSB; Malacards: CTSB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002224	toll-like receptor signal ing pathway	TAS	biological_process
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	TAS	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005764	lysosome	IDA	cellular_component
GO:0005901	caveola	IEA	cellular_component
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006914	autophagy	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007519	skeletal muscle tissue de velopment	IEA	biological_process
GO:0008233	peptidase activity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0009611	response to wounding	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014075	response to amine	IEA	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0030984	kininogen binding	IEA	molecular_function
GO:0036021	endolysosome lumen	TAS	cellular_component
GO:0042277	peptide binding	IEA	molecular_function
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042470	melanosome	IEA	cellular_component
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043394	proteoglycan binding	IPI	molecular_function
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0043621	protein self-association	IEA	molecular_function
GO:0045471	response to ethanol	IEA	biological_process
GO:0046697	decidualization	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0050790	regulation of catalytic a ctivity	IEA	biological_process
GO:0051603	proteolysis involved in c ellular protein catabolic process	IDA	biological_process
GO:0060548	negative regulation of ce ll death	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070670	response to interleukin-4	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IEP	biological_process
GO:0002224	toll-like receptor signal ing pathway	TAS	biological_process
GO:0004175	endopeptidase activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	TAS	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IDA	cellular_component
GO:0005901	caveola	IEA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006914	autophagy	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007519	skeletal muscle tissue de velopment	IEA	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008233	peptidase activity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0009611	response to wounding	IEA	biological_process
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014075	response to amine	IEA	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0030984	kininogen binding	IEA	molecular_function
GO:0032403	protein complex binding	IEA	molecular_function
GO:0034097	response to cytokine	IEA	biological_process
GO:0036021	endolysosome lumen	TAS	cellular_component
GO:0042277	peptide binding	IEA	molecular_function
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042470	melanosome	IEA	cellular_component
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043394	proteoglycan binding	IPI	molecular_function
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0043621	protein self-association	IEA	molecular_function
GO:0045471	response to ethanol	IEA	biological_process
GO:0046697	decidualization	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0050790	regulation of catalytic a ctivity	IEA	biological_process
GO:0051603	proteolysis involved in c ellular protein catabolic process	IDA	biological_process
GO:0060548	negative regulation of ce ll death	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070670	response to interleukin-4	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IEP	biological_process
GO:0002224	toll-like receptor signal ing pathway	TAS	biological_process
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	TAS	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0005764	lysosome	IDA	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0008233	peptidase activity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IDA	molecular_function
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0036021	endolysosome lumen	TAS	cellular_component
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043394	proteoglycan binding	IPI	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0051603	proteolysis involved in c ellular protein catabolic process	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0097067	cellular response to thyr oid hormone stimulus	IEP	biological_process

KEGG pathways

hsa04210  Apoptosis
hsa04621  NOD-like receptor signaling pathway
hsa04612  Antigen processing and presentation
hsa04140  Autophagy - animal
hsa04142  Lysosome
hsa04924  Renin secretion

Diseases

Associated diseases	References
Cancer	PMID: 19930869
Diabetes	PMID: 18706099
Endometrial cancer	PMID: 16681770
Endometriosis	PMID: 23466190
Female infertility	PMID: 25739053
Pancreatitis	KEGG: H00932
Endometriosis	INFBASE23466190

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23466190	Endometrio sis			55 (31 patients with endometri osis (stages I- IV), 24 control s)		cathepsins B cathepsins D cathepsins G	Show abstract