• Gene id: 1508

Gene Summary

• Gene Symbol: CTSB   Gene   UCSC   Ensembl
• Aliases: APPS, CPSB, RECEUP
• Gene name: cathepsin B
• Alternate names: cathepsin B, APP secretase, amyloid precursor protein secretase, cathepsin B1, cysteine protease, epididymis secretory sperm binding protein,
• Gene location: 8p23.1 (11868117: 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 pro
• 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: 37822
  • Tissue specificity: Expressed in the stratum spinosum of the epidermis. Weak expression is detected in the stratum granulosum. {ECO
• Sequence:

  MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFT
  EDLKLPASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGC
  NGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHY
  GYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSW
  NTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQYWEKI

• Structural information:
  • Interpro: IPR038765  IPR025661  IPR000169  IPR025660  IPR000668   IPR012599  
  • Prosite: PS00640 PS00139 PS00639
  • PDB: 1CSB 1GMY 1HUC 1PBH 2IPP 2PBH 3AI8 3CBJ 3CBK 3K9M 3PBH 5MBL 5MBM 6AY2
  • PDBsum: 1CSB 1GMY 1HUC 1PBH 2IPP 2PBH 3AI8 3CBJ 3CBK 3K9M 3PBH 5MBL 5MBM 6AY2
  • DIP: 42785
  • STRING: ENSP00000345672
• Other Databases: GeneCards:  CTSB  Malacards:  CTSB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	cellular component
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0005622	intracellular	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0036021	endolysosome lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
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:0005615	extracellular space	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0051603	proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0006590	thyroid hormone generation	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0046697	decidualization	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0051603	proteolysis involved in cellular protein catabolic process	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030574	collagen catabolic process	IDA	biological process
GO:0043394	proteoglycan binding	IPI	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005764	lysosome	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0097067	cellular response to thyroid hormone stimulus	IEP	biological process
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Intracranial aneurysm	PMID:18635848
urinary bladder cancer	PMID:15183956
Guillain-Barre syndrome	PMID:11134381
Breast cancer	PMID:9508185
Multiple sclerosis	PMID:11134381
Transitional cell carcinoma	PMID:15183956
Glioblastoma multiforme	PMID:17898873
esophagus adenocarcinoma	PMID:9770500
diabetes mellitus	PMID:18706099
type 2 diabetes mellitus	PMID:19367387
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R