BPIFB1
BPI Fold Containing Family B Member 1
Gene Information Card
| Symbol | BPIFB1 |
|---|---|
| Full Name | BPI Fold Containing Family B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 92747 ncbi.nlm.nih.gov/gene/92747 |
| Ensembl ID | ENSG00000125991 |
| UniProt ID | Q8TDL5 |
| OMIM ID | 614766 |
| HGNC ID | 15956 |
| Aliases | LPLUNC1, C20orf114, LUNGC1 |
Description
BPIFB1 (BPI Fold Containing Family B Member 1) encodes a member of the BPI/LBP/PLUNC family of proteins, characterized by a bactericidal/permeability-increasing protein (BPI) fold. This secreted protein is primarily expressed in the upper respiratory tract and oral cavity, where it is thought to play a role in innate immune defense against bacteria. It is also known as LPLUNC1 (long palate, lung, and nasal epithelium clone 1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nasopharyngeal carcinoma | Downregulation of BPIFB1 may contribute to tumor progression; potential tumor suppressor | PMID: 19351800 |
| Chronic rhinosinusitis | Altered expression in nasal mucosa; possible role in mucosal immunity | PMID: 21772267 |
| Lung cancer | Reduced expression in non-small cell lung cancer; associated with poor prognosis | PMID: 21912515 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Nasal epithelium | 12.5 | Medium |
| Lung | 8.2 | Medium |
| Trachea | 10.1 | Medium |
| Salivary gland | 6.8 | Low |
| Esophagus | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.1 | Moderate expression |
| HBE135-E6E7 (bronchial epithelial) | 7.3 | Higher expression |
| Detroit 562 (pharyngeal carcinoma) | 6.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.502G>A (p.Gly168Ser) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • innate immune response | • defense response to bacterium |
| • extracellular region | • lipid binding |
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
BPIFB1 is a secreted protein of approximately 52 kDa containing a BPI/LBP/PLUNC domain. It is expressed in mucosal surfaces of the respiratory tract and oral cavity, where it binds lipopolysaccharides and contributes to antibacterial defense. Its expression is often reduced in certain cancers, suggesting a potential tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFB1 Knockout HEK293 Cell Line | EDJ-KQ11064 | Human | 92747 | Details Get a Quote |
| BPIFB1 Knockout HeLa Cell Line | EDJ-KQ57846 | Human | 92747 | Details Get a Quote |
| BPIFB1 Knockout A-549 Cell Line | EDJ-KQ66345 | Human | 92747 | Details Get a Quote |
| BPIFB1 Knockout HCT 116 Cell Line | EDJ-KQ74768 | Human | 92747 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
