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

    Gene ID: 671, updated on 3-Apr-2024

    Summary

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    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

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    Location:
    20q11.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38304156..38337505)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40030315..40063822)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36932558..36965907)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene KIAA1755 Neighboring gene uncharacterized LOC124904900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36881371-36881963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36888895-36889394 Neighboring gene uncharacterized LOC149684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36915021-36915522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36926779-36927294 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36962737-36963936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36970603-36971380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36972161-36972938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36982312-36982872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36982873-36983432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36986777-36987278 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:36991245-36991414 Neighboring gene lipopolysaccharide binding protein Neighboring gene ReSE screen-validated silencer GRCh37_chr20:37017902-37018103 Neighboring gene uncharacterized LOC124904901

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular Evolution of the Bactericidal/Permeability-Increasing Protein (BPIFA1) Regulating the Innate Immune Responses in Mammals. Ahmad HI, et al. Genes (Basel), 2022 Dec 21. PMID 36672756, Free PMC Article
    2. Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Lipid Metabolism and Cardiovascular Diseases. Yu Y, et al. Adv Exp Med Biol, 2020. PMID 32705592
    3. Clinical significance of BPI-ANCA detecting in COPD patients with Pseudomonas aeruginosa colonization. Tian Y, et al. J Clin Lab Anal, 2019 Jul. PMID 31106488, Free PMC Article
    4. Bactericidal/Permeability-Increasing Protein Is an Enhancer of Bacterial Lipoprotein Recognition. Bülow S, et al. Front Immunol, 2018. PMID 30581431, Free PMC Article
    5. Bactericidal/permeability increasing protein gene polymorphism and inflammatory bowel diseases: meta-analysis of five case-control studies. Fan L, et al. Int J Colorectal Dis, 2017 Mar. PMID 28035462

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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].
    9. 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.
    10. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 extracellular exosome HDA 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

    1. NG_047016.1 RefSeqGene

      Range
      5007..38356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38304156..38337505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_047440394.1 → XP_047296350.1  bactericidal permeability-increasing protein isoform X2

    3. XM_047440395.1 → XP_047296351.1  bactericidal permeability-increasing protein isoform X3

      Related
      ENSP00000409833.2, ENST00000417318.3

    4. 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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      40030315..40063822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323896.1 → XP_054179871.1  bactericidal permeability-increasing protein isoform X1

    2. XM_054323897.1 → XP_054179872.1  bactericidal permeability-increasing protein isoform X2

    3. XM_054323898.1 → XP_054179873.1  bactericidal permeability-increasing protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17213.4 GenPept UniProtKB/Swiss-Prot:P17213

    Gene LinkOut

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