• Gene id: 671

Gene Summary

• Gene Symbol: BPI   Gene   UCSC   Ensembl
• Aliases: BPIFD1, rBPI
• Gene name: bactericidal permeability increasing protein
• Alternate names: bactericidal permeability-increasing protein, BPI fold containing family D, member 1, CAP 57, recombinant BPI holoprotein, rBPI,
• Gene location: 20q11.23 (38304155: 38337504)     Exons: 16     NC_000020.11
• Gene summary(Entrez): This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
• OMIM: 126449

SNPs

rs7562326

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31573695T>A
NC_000002.12   g.31573695T>C
NC_000002.11   g.31798765T>A
NC_000002.11   g.31798765T>C
NG_008365.1   g.12277A>T
NG_008365.1   g.12277A>G|SEQ=[T/A/C]|GENE=SRD5A2

rs523349

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580636G>A
NC_000002.12   g.31580636G>C
NC_000002.12   g.31580636G>T
NC_000002.11   g.31805706G>A
NC_000002.11   g.31805706G>C
NC_000002.11   g.31805706G>T
NG_008365.1   g.5336C>T
NG_008365.1   g.5336C>G
NG_008365.1   g.5336C>A
NM_000348.4   c.265C>T
N  

rs632148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580962C>G
NC_000002.11   g.31806031C>G
NG_008365.1   g.5010G>C
NM_000348.3   c.-62G>C|SEQ=[C/G]|GENE=SRD5A2

rs2300701

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31561938A>G
NC_000002.11   g.31787008A>G
NG_008365.1   g.24034T>C|SEQ=[A/G]|GENE=SRD5A2

rs2268797

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31558682C>T
NC_000002.11   g.31783752C>T
NG_008365.1   g.27290G>A
XM_011533069.2   c.-171G>A|SEQ=[C/T]|GENE=SRD5A2

rs12470143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31538488C>T
NC_000002.11   g.31763558C>T
NG_008365.1   g.47484G>A|SEQ=[C/T]|GENE=SRD5A2

Protein Summary

• Protein general information: P17213  
  • Name: Bactericidal permeability increasing protein (BPI) (CAP 57)
  • Length: 487  
  • Mass: 53900
  • Tissue specificity: Restricted to cells of the myeloid series.
• Sequence:

  MRENMARGPCNAPRWASLMVLVAIGTAVTAAVNPGVVVRISQKGLDYASQQGTAALQKELKRIKIPDYSDSFKIK
  HLGKGHYSFYSMDIREFQLPSSQISMVPNVGLKFSISNANIKISGKWKAQKRFLKMSGNFDLSIEGMSISADLKL
  GSNPTSGKPTITCSSCSSHINSVHVHISKSKVGWLIQLFHKKIESALRNKMNSQVCEKVTNSVSSELQPYFQTLP
  VMTKIDSVAGINYGLVAPPATTAETLDVQMKGEFYSENHHNPPPFAPPVMEFPAAHDRMVYLGLSDYFFNTAGLV
  YQEAGVLKMTLRDDMIPKESKFRLTTKFFGTFLPEVAKKFPNMKIQIHVSASTPPHLSVQPTGLTFYPAVDVQAF
  AVLPNSSLASLFLIGMHTTGSMEVSAESNRLVGELKLDRLLLELKHSNIGPFPVELLQDIMNYIVPILVLPRVNE
  KLQKGFPLPTPARVQLYNVVLQPHQNFLLFGADVVYK

• Structural information:
  • Interpro: IPR017943  IPR030181  IPR030675  IPR032942  IPR001124   IPR017954  IPR017942  
  • Prosite: PS00400
  • PDB: 1BP1 1EWF
  • PDBsum: 1BP1 1EWF
  • STRING: ENSP00000262865
• Other Databases: GeneCards:  BPI  Malacards:  BPI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045087	innate immune response	IBA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0050829	defense response to Gram-negative bacterium	IBA	biological process
GO:0043031	negative regulation of macrophage activation	IBA	biological process
GO:0032717	negative regulation of interleukin-8 production	IBA	biological process
GO:0032715	negative regulation of interleukin-6 production	IBA	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IBA	biological process
GO:0001530	lipopolysaccharide binding	IBA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0001530	lipopolysaccharide binding	IEA	molecular function
GO:0006955	immune response	IEA	biological process
GO:0050829	defense response to Gram-negative bacterium	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0001530	lipopolysaccharide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006955	immune response	IEA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0032720	negative regulation of tumor necrosis factor production	IDA	biological process
GO:0032715	negative regulation of interleukin-6 production	IDA	biological process
GO:0032717	negative regulation of interleukin-8 production	IDA	biological process
GO:0043031	negative regulation of macrophage activation	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Crohn's disease	PMID:15758620
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881