• Gene id: 5269

Gene Summary

• Gene Symbol: SERPINB6   Gene   UCSC   Ensembl
• Aliases: CAP, DFNB91, MSTP057, PI-6, PI6, PTI, SPI3
• Gene name: serpin family B member 6
• Alternate names: serpin B6, cytoplasmic antiproteinase, protease inhibitor 6 (placental thrombin inhibitor), serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6, serpin peptidase inhibitor, clade B (ovalbumin), member 6,
• Gene location: 6p25.2 (2971792: 2948158)     Exons: 13     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the ha
• OMIM: 173321

Protein Summary

• Protein general information: P35237  
  • Name: Serpin B6 (Cytoplasmic antiproteinase) (CAP) (Peptidase inhibitor 6) (PI 6) (Placental thrombin inhibitor)
  • Length: 376  
  • Mass: 42622
  • Tissue specificity: Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cell
• Sequence:

  MDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFNKSGGGGDIHQGFQSL
  LTEVNKTGTQYLLRMANRLFGEKSCDFLSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELL
  SPGSVDPLTRLVLVNAVYFRGNWDEQFDKENTEERLFKVSKNEEKPVQMMFKQSTFKKTYIGEIFTQILVLPYVG
  KELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYDMESVLRNLGMTDAFELGKA
  DFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSS
  P

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • STRING: ENSP00000484343
• Other Databases: GeneCards:  SERPINB6  Malacards:  SERPINB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0097180	serine protease inhibitor complex	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071470	cellular response to osmotic stress	IMP	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0007605	sensory perception of sound	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray