BPI bactericidal permeability increasing protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPIprovided by HGNC
Official Full Name: bactericidal permeability increasing proteinprovided by HGNC
Primary source: HGNC:HGNC:1095
See related: Ensembl:ENSG00000101425 MIM:109195; AllianceGenome:HGNC:1095
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: rBPI; BPIFD1
Summary: 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]
Expression: Restricted expression toward bone marrow (RPKM 549.1) See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38304156..38337505)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (40030315..40063822)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (36932558..36965907)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Molecular Evolution of the Bactericidal/Permeability-Increasing Protein (BPIFA1) Regulating the Innate Immune Responses in Mammals.
Title: Molecular Evolution of the Bactericidal/Permeability-Increasing Protein (BPIFA1) Regulating the Innate Immune Responses in Mammals.
BPI overexpression suppresses Treg differentiation and induces exosome-mediated inflammation in systemic lupus erythematosus.
Title: BPI overexpression suppresses Treg differentiation and induces exosome-mediated inflammation in systemic lupus erythematosus.
Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Lipid Metabolism and Cardiovascular Diseases.
Title: Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Lipid Metabolism and Cardiovascular Diseases.
Serum BPI protein levels are associated with inflammatory status in chronic obstructive pulmonary disease patients with pulmonary Pseudomonas aeruginosa colonization.
Title: Clinical significance of BPI-ANCA detecting in COPD patients with Pseudomonas aeruginosa colonization.
define BPI as an immune enhancing pattern recognition molecule in Gram-positive infections.
Title: Bactericidal/Permeability-Increasing Protein Is an Enhancer of Bacterial Lipoprotein Recognition.
BPI G645A polymorphism was associated with a decreased risk of ulcerative colitis; the BPI G645A polymorphism was not associated with the risk of crohn's disease.
Title: Bactericidal/permeability increasing protein gene polymorphism and inflammatory bowel diseases: meta-analysis of five case-control studies.
Bactericidal permeability increasing protein Lys216Glu polymorphism is associated with both Crohn's disease and ulcerative colitis.
Title: Bactericidal permeability increasing protein gene polymorphism is associated with inflammatory bowel diseases in the Turkish population.
MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42 in CD8(+) T-lymphocytes might be used as specific biomarkers of severe asthma progression.
Title: [Comparative analysis of the role of CD4(+) and CD8(+) T cells in severe asthma development].
This review article focuses on the structural and functional properties of BPI with respect to its antimicrobial contribution to host defense during GNB infections and endotoxin-induced inflammation.
Title: The bactericidal/permeability-increasing protein (BPI) in infection and inflammatory disease.
Diminished PRRs, IFN-signature, and BPI gene expression raises the possibility that impairments in these pathways contribute to the susceptibility of LBW term infants to infection.
Title: Decreased pattern recognition receptor signaling, interferon-signature, and bactericidal/permeability-increasing protein gene expression in cord blood of term low birth weight human newborns.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SGC32792 (e-PCR)
- UniSTS:45582

SHGC-12397 (e-PCR)
- UniSTS:47183

stbA2202H1A (e-PCR)
- UniSTS:181367

D20S1064 (e-PCR)
- UniSTS:21226

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipopolysaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipopolysaccharide binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipopolysaccharide-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-6 production	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-8 production	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of macrophage activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: bactericidal permeability-increasing protein

Names: BPI fold containing family D, member 1; CAP 57; recombinant BPI holoprotein, rBPI

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.

Genomic

NG_047016.1 RefSeqGene

Range

5007..38356

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001725.3 → NP_001716.3 bactericidal permeability-increasing protein precursor

Status: REVIEWED

Source sequence(s)

AL359555, AL391095, AL499625

Consensus CDS

CCDS13303.2

UniProtKB/Swiss-Prot

B2RCY2, P17213, Q1ZZU8, Q5JRW0, Q8IW58, Q9BYZ9, Q9H1L2, Q9H1M8, Q9H203, Q9UCT4, Q9UD65

UniProtKB/TrEMBL

A0A2R8YDF1

Related

ENSP00000494528.2, ENST00000642449.2

Conserved Domains (2) summary

smart00328
Location:35 → 260

BPI1; BPI/LBP/CETP N-terminal domain

pfam02886
Location:245 → 482

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

38304156..38337505

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440393.1 → XP_047296349.1 bactericidal permeability-increasing protein isoform X1

UniProtKB/Swiss-Prot

B2RCY2, P17213, Q1ZZU8, Q5JRW0, Q8IW58, Q9BYZ9, Q9H1L2, Q9H1M8, Q9H203, Q9UCT4, Q9UD65

Related

ENSP00000520599.1, ENST00000418004.6
XM_047440394.1 → XP_047296350.1 bactericidal permeability-increasing protein isoform X2

UniProtKB/Swiss-Prot

B2RCY2, P17213, Q1ZZU8, Q5JRW0, Q8IW58, Q9BYZ9, Q9H1L2, Q9H1M8, Q9H203, Q9UCT4, Q9UD65
XM_047440395.1 → XP_047296351.1 bactericidal permeability-increasing protein isoform X3

UniProtKB/TrEMBL

H0Y738

Related

ENSP00000409833.2, ENST00000417318.3
XM_024451972.2 → XP_024307740.1 bactericidal permeability-increasing protein isoform X4

UniProtKB/TrEMBL

H0Y738

Conserved Domains (2) summary

pfam02886
Location:51 → 251

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain

cl00188
Location:1 → 66

BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...