BPIFB1 BPI fold containing family B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPIFB1provided by HGNC
Official Full Name: BPI fold containing family B member 1provided by HGNC
Primary source: HGNC:HGNC:16108
See related: Ensembl:ENSG00000125999 AllianceGenome:HGNC:16108
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LPLUNC1; C20orf114
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 other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
Expression: Biased expression in stomach (RPKM 277.8), lung (RPKM 49.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33283214..33309871)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (35000716..35037069)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31871020..31897677)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BPIFB1 loss alters airway mucus properties and diminishes mucociliary clearance.
Title: BPIFB1 loss alters airway mucus properties and diminishes mucociliary clearance.
BPIFB1 negatively regulates its interactor VTN, thereby inhibiting VTN-induced proliferation, antiapoptotic effects, G2/M phase arrest, DSB repair, and the activation of the ATM-Chk2 and ATR-Chk1 pathways after irradiation.
Title: BPIFB1 (LPLUNC1) inhibits radioresistance in nasopharyngeal carcinoma by inhibiting VTN expression.
A novel mechanism underlying the anticancer effect of LPLUNC1 and clarifying that PHB1 may represent a novel, promising candidate tumour suppressor gene in Nasopharyngeal carcinoma, with potential therapeutic target value.
Title: LPLUNC1 stabilises PHB1 by counteracting TRIM21-mediated ubiquitination to inhibit NF-κB activity in nasopharyngeal carcinoma.
Results showed that BPIFB1 expression markedly inhibited NPC cell migration, invasion, and lung-metastatic abilities. Additionally, identification of two BPIFB1-interacting proteins, VTN and VIM, showed that BPIFB1 reduced VTN expression and the formation of a VTN-integrin alphaV complex in NPC cells, leading to inhibition of the FAK/Src/ERK signalling pathway.
Title: BPIFB1 (LPLUNC1) inhibits migration and invasion of nasopharyngeal carcinoma by interacting with VTN and VIM.
BPIFA1 and BPIFB1 expressions are correlated with goblet cell metaplasia and inversely correlated with lung function parameters of airway obstruction (FEV1 and FEV1/FVC) in COPD patients.
Title: Association of innate defense proteins BPIFA1 and BPIFB1 with disease severity in COPD.
The G allele of rs1078761 may be detrimental to lung function in cystic fibrosis owing to decreased levels of BPIFA1 and BPIFB1.
Title: Polymorphisms associated with expression of BPIFA1/BPIFB1 and lung disease severity in cystic fibrosis.
higher sputum concentrations of BPIFB1 were associated with changes of lung function over time, especially in current smokers with chronic obstructive pulmonary disease. BPIFB1 may be involved in the pathogenesis of smoking-related lung diseases.
Title: Elevated sputum BPIFB1 levels in smokers with chronic obstructive pulmonary disease: a longitudinal study.
Autoimmunity targeting the lung-specific antigen BPIFB1 may contribute to the pathogenesis of interstitial lung disease.
Title: BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.
Results suggest that LPLUNC1 can inhibit inflammation and nasopharyngeal carcinoma (NPC) growth by downregulating the Stat3 pathway.
Title: LPLUNC1 suppresses IL-6-induced nasopharyngeal carcinoma cell proliferation via inhibiting the Stat3 activation.
LPLUNC1 delays nasopharyngeal carcinoma cell growth by inhibiting the MAP Kinase and cyclin D1/E2F pathways.
Title: LPLUNC1 inhibits nasopharyngeal carcinoma cell growth via down-regulation of the MAP kinase and cyclin D1/E2F pathways.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in innate immune response in mucosa	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response in mucosa	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of toll-like receptor 4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: BPI fold-containing family B member 1

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033197.3 → NP_149974.2 BPI fold-containing family B member 1 precursor

See identical proteins and their annotated locations for NP_149974.2

Status: REVIEWED

Source sequence(s)

AF364078, CD696225

Consensus CDS

CCDS13218.1

UniProtKB/Swiss-Prot

A8K2H8, Q5QP43, Q6UWY1, Q6ZRU7, Q8TDL5, Q96HK6, Q9BQP8, Q9BWZ6, Q9H4V6

UniProtKB/TrEMBL

B2R7Z6

Related

ENSP00000253354.1, ENST00000253354.2

Conserved Domains (2) summary

cd00025
Location:26 → 262

BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

cd00026
Location:279 → 474

BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...