BPIFB1 (BPI fold containing family B member 1)

Gene

• Entrez ID: 92747
• Gene name: BPI fold containing family B member 1
• Gene symbol: BPIFB1
• Synonyms (NCBI Gene): C20orf114, LPLUNC1
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002227	Process	Innate immune response in mucosa	IBA
GO:0002227	Process	Innate immune response in mucosa	IDA	21900486
GO:0002376	Process	Immune system process	IEA
GO:0005576	Component	Extracellular region	IDA	20237794
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IBA
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IDA	21900486
GO:0045087	Process	Innate immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708

Other IDs

• MIM: 621168
• HGNC: 16108
• e!Ensembl: ENSG00000125999

Protein

• UniProt ID: Q8TDL5
• Protein 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)
• Protein function: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01273	LBP_BPI_CETP	43 → 215	LBP / BPI / CETP family, N-terminal domain	Family
  PF02886	LBP_BPI_CETP_C	285 → 471	LBP / BPI / CETP family, C-terminal domain	Domain

• Tissue specificity: 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:0000269|PubMed:21900486}.
• Sequence:

  MAGPWTFTLLCGLLAATLIQATLSPTAVLILGPKVIKEKLTQELKDHNATSILQQLPLLS
  AMREKPAGGIPVLGSLVNTVLKHIIWLKVITANILQLQVKPSANDQELLVKIPLDMVAGF
  NTPLVKTIVEFHMTTEAQATIRMDTSASGPTRLVLSDCATSHGSLRIQLLHKLSFLVNAL
  AKQVMNLLVPSLPNLVKNQLCPVIEASFNGMYADLLQLVKVPISLSIDRLEFDLLYPAIK
  GDTIQLYLGAKLLDSQGKVTKWFNNSAASLTMPTLDNIPFSLIVSQDVVKAAVAAVLSPE
  EFMVLLDSVLPESAHRLKSSIGLINEKAADKLGSTQIVKILTQDTPEFFIDQGHAKVAQL
  IVLEVFPSSEALRPLFTLGIEASSEAQFYTKGDQLILNLNNISSDRIQLMNSGIGWFQPD
  VLKNIITEIIHSILLPNQNGKLRSGVPVSLVKALGFEAAESSLTKDALVLTPASLWKPSS
  PVSQ

• Sequence length: 484

Pathways

Reactome:

Antimicrobial peptides

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29667179		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37466093	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24107778		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25937444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	29296079	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	18221458	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25937444		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29296079		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	24107778		★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	31931521	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	25574903		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31931521	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37005656	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25574903		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25979078	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	24107778		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25937444		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25937444, 29667179	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25937444		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	33506054	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12874788, 22213098, 23708661, 29123267, 29568064, 30886235		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29568064	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36382614	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30886235		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	24107778		★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	22767025		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25979078, 29296079	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26306861, 37466093	Associate	★☆☆☆☆ Found in Text Mining only