• Gene id: 92747

Gene Summary

• Gene Symbol: BPIFB1   Gene   UCSC   Ensembl
• Aliases: C20orf114, LPLUNC1
• Gene name: BPI fold containing family B member 1
• Alternate names: BPI fold-containing family B member 1, VEMSGP, long palate, lung and nasal epithelium carcinoma associated 1, long palate, lung and nasal epithelium carcinoma-associated protein 1, von Ebner minor salivary gland protein,
• Gene location: 20q11.21 (33273549: 33309870)     Exons: 3     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with

Protein Summary

• Protein general information: Q8TDL5  
  • Name: BPI fold containing family B member 1 (Long palate, lung and nasal epithelium carcinoma associated protein 1) (von Ebner minor salivary gland protein) (VEMSGP)
  • Length: 484  
  • Mass: 52442
  • Tissue specificity: Detected in duodenum mucosal crypts of cholera patients, near Paneth cells (at protein level). Detected in trachea, nasal septal epithelium and lung. {ECO
• Sequence:

  MAGPWTFTLLCGLLAATLIQATLSPTAVLILGPKVIKEKLTQELKDHNATSILQQLPLLSAMREKPAGGIPVLGS
  LVNTVLKHIIWLKVITANILQLQVKPSANDQELLVKIPLDMVAGFNTPLVKTIVEFHMTTEAQATIRMDTSASGP
  TRLVLSDCATSHGSLRIQLLHKLSFLVNALAKQVMNLLVPSLPNLVKNQLCPVIEASFNGMYADLLQLVKVPISL
  SIDRLEFDLLYPAIKGDTIQLYLGAKLLDSQGKVTKWFNNSAASLTMPTLDNIPFSLIVSQDVVKAAVAAVLSPE
  EFMVLLDSVLPESAHRLKSSIGLINEKAADKLGSTQIVKILTQDTPEFFIDQGHAKVAQLIVLEVFPSSEALRPL
  FTLGIEASSEAQFYTKGDQLILNLNNISSDRIQLMNSGIGWFQPDVLKNIITEIIHSILLPNQNGKLRSGVPVSL
  VKALGFEAAESSLTKDALVLTPASLWKPSSPVSQ

• Structural information:
  • Interpro: IPR017943  IPR021193  IPR001124  IPR017942  
  • STRING: ENSP00000253354
• Other Databases: GeneCards:  BPIFB1  Malacards:  BPIFB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002227	innate immune response in mucosa	IBA	biological process
GO:0034144	negative regulation of toll-like receptor 4 signaling pathway	IBA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0034144	negative regulation of toll-like receptor 4 signaling pathway	IDA	biological process
GO:0002227	innate immune response in mucosa	IDA	biological process
GO:0005576	extracellular region	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R