• Gene id: 1992

Gene Summary

• Gene Symbol: SERPINB1   Gene   UCSC   Ensembl
• Aliases: EI, ELANH2, HEL-S-27, HEL57, LEI, M/NEI, MNEI, PI-2, PI2
• Gene name: serpin family B member 1
• Alternate names: leukocyte elastase inhibitor, epididymis luminal protein 57, epididymis secretory protein Li 27, peptidase inhibitor 2, protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived, serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1, ,
• Gene location: 6p25.2 (2842011: 2832331)     Exons: 9     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits t
• OMIM: 130135

Protein Summary

• Protein general information: P30740  
  • Name: Leukocyte elastase inhibitor (LEI) (Monocyte/neutrophil elastase inhibitor) (EI) (M/NEI) (Peptidase inhibitor 2) (PI 2) (Serpin B1)
  • Length: 379  
  • Mass: 42742
  • Tissue specificity: In human bone marrow, present in all CD45+ populations. Expression levels are highest in the neutrophil lineage, intermediate in monocytic, and lowest in lymphocytic lineage. Within the neutrophil lineage, expression is highest in prom
• Sequence:

  MEQLSSANTRFALDLFLALSENNPAGNIFISPFSISSAMAMVFLGTRGNTAAQLSKTFHFNTVEEVHSRFQSLNA
  DINKRGASYILKLANRLYGEKTYNFLPEFLVSTQKTYGADLASVDFQHASEDARKTINQWVKGQTEGKIPELLAS
  GMVDNMTKLVLVNAIYFKGNWKDKFMKEATTNAPFRLNKKDRKTVKMMYQKKKFAYGYIEDLKCRVLELPYQGEE
  LSMVILLPDDIEDESTGLKKIEEQLTLEKLHEWTKPENLDFIEVNVSLPRFKLEESYTLNSDLARLGVQDLFNSS
  KADLSGMSGARDIFISKIVHKSFVEVNEEGTEAAAATAGIATFCMLMPEENFTADHPFLFFIRHNSSGSILFLGR
  FSSP

• Structural information:
  • Interpro: IPR015557  IPR023795  IPR023796  IPR000215  IPR036186   IPR042178  IPR042185  
  • Prosite: PS00284
  • PDB: 4GA7
  • PDBsum: 4GA7
  • STRING: ENSP00000370115
• Other Databases: GeneCards:  SERPINB1  Malacards:  SERPINB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0030414	peptidase inhibitor activity	IDA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0044342	type B pancreatic cell proliferation	IDA	biological process
GO:0010951	negative regulation of endopeptidase activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050713	negative regulation of interleukin-1 beta secretion	IMP	biological process
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:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005615	extracellular space	HDA	cellular component
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:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881