• Gene id: 1476

Gene Summary

• Gene Symbol: CSTB   Gene   UCSC   Ensembl
• Aliases: CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD
• Gene name: cystatin B
• Alternate names: cystatin-B, cystatin B (stefin B), epididymis secretory sperm binding protein, liver thiol proteinase inhibitor,
• Gene location: 21q22.3 (51083596: 51061204)     Exons: 10     NC_000012.12
• Gene summary(Entrez): The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory
• OMIM: 601145

Protein Summary

• Protein general information: P04080  
  • Name: Cystatin B (CPI B) (Liver thiol proteinase inhibitor) (Stefin B)
  • Length: 98  
  • Mass: 11140
• Sequence:

  MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVFQSLPH
  ENKPLTLSNYQTNKAKHDELTYF

• Structural information:
  • Interpro: IPR000010  IPR018073  IPR001713  
  • Prosite: PS00287
  • CDD: cd00042
  • PDB: 1STF 2OCT 4N6V
  • PDBsum: 1STF 2OCT 4N6V
  • STRING: ENSP00000291568
• Other Databases: GeneCards:  CSTB  Malacards:  CSTB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004869	cysteine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004866	endopeptidase inhibitor activity	IEA	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0004866	endopeptidase inhibitor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0002020	protease binding	IDA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
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:0034774	secretory granule lumen	TAS	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0004869	cysteine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0010466	negative regulation of peptidase activity	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0045861	negative regulation of proteolysis	IDA	biological process
GO:0004869	cysteine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Unverricht-Lundborg disease	KEGG:H01995
Progressive myoclonic epilepsy	KEGG:H00810
Unverricht-Lundborg disease	KEGG:H01995
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray