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BPIFA1 BPI fold containing family A member 1 [ Homo sapiens (human) ]

Gene ID: 51297, updated on 11-Apr-2024

Summary

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Official Symbol
BPIFA1provided by HGNC
Official Full Name
BPI fold containing family A member 1provided by HGNC
Primary source
HGNC:HGNC:15749
See related
Ensembl:ENSG00000198183 MIM:607412; AllianceGenome:HGNC:15749
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
LUNX; NASG; PLUNC; SPURT; SPLUNC1; bA49G10.5
Summary
This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]
Expression
Biased expression in lung (RPKM 1.2), urinary bladder (RPKM 0.9) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See BPIFA1 in Genome Data Viewer
Location:
20q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33235996..33243306)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34963235..34970520)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31823802..31831112)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene BPI fold containing family A member 4, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:31811562-31812761 Neighboring gene BPI fold containing family A member 3 Neighboring gene uncharacterized LOC105372593 Neighboring gene ribosomal protein L12 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31869092-31869592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31869593-31870093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31877426-31878386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31878387-31879347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17727 Neighboring gene BPI fold containing family B member 1 Neighboring gene uncharacterized LOC124904888 Neighboring gene uncharacterized LOC105372594

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. Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria. Jakkampudi T, et al. Biomacromolecules, 2023 Jun 12. PMID 37223955, Free PMC Article
  2. BPIFA1 is a secreted biomarker of differentiating human airway epithelium. Clifton C, et al. Front Cell Infect Microbiol, 2022. PMID 36519134, Free PMC Article
  3. SPLUNC1 regulates LPS-induced progression of nasopharyngeal carcinoma and proliferation of myeloid-derived suppressor cells. Tang L, et al. Med Oncol, 2022 Sep 29. PMID 36175598
  4. Relationship between circulating lung-specific X protein messenger ribonucleic acid expression and micrometastasis and prognosis in patients with early-stage nonsmall cell lung cancer. Cui Y, et al. J Cancer Res Ther, 2020. PMID 33565511
  5. Degradation of bacterial permeability family member A1 (BPIFA1) by house dust mite (HDM) cysteine protease Der p 1 abrogates immune modulator function. Zhang R, et al. Int J Biol Macromol, 2020 Dec 1. PMID 32890564, Free PMC Article

See all (104) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CC16 drives VLA-2-dependent SPLUNC1 expression.
    Title: CC16 drives VLA-2-dependent SPLUNC1 expression.
  2. Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria.
    Title: Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria.
  3. [Correlation between the mRNA levels of BCRP and LUNX genes and pathological types and stages of patients with non-small cell lung cancer].
    Title: [Correlation between the mRNA levels of BCRP and LUNX genes and pathological types and stages of patients with non-small cell lung cancer].
  4. BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
    Title: BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
  5. SPLUNC1 regulates LPS-induced progression of nasopharyngeal carcinoma and proliferation of myeloid-derived suppressor cells.
    Title: SPLUNC1 regulates LPS-induced progression of nasopharyngeal carcinoma and proliferation of myeloid-derived suppressor cells.
  6. SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
    Title: SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
  7. Relationship between circulating lung-specific X protein messenger ribonucleic acid expression and micrometastasis and prognosis in patients with early-stage nonsmall cell lung cancer.
    Title: Relationship between circulating lung-specific X protein messenger ribonucleic acid expression and micrometastasis and prognosis in patients with early-stage nonsmall cell lung cancer.
  8. The SPLUNC1-betaENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
    Title: The SPLUNC1-βENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
  9. Degradation of bacterial permeability family member A1 (BPIFA1) by house dust mite (HDM) cysteine protease Der p 1 abrogates immune modulator function.
    Title: Degradation of bacterial permeability family member A1 (BPIFA1) by house dust mite (HDM) cysteine protease Der p 1 abrogates immune modulator function.
  10. A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
    Title: A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Submit: New GeneRIF Correction See all GeneRIFs (72)

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)

Genotypes

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 lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in antibacterial humoral response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antibacterial humoral response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in defense response to virus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in immune response in nasopharyngeal-associated lymphoid tissue IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immune response in nasopharyngeal-associated lymphoid tissue IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in multicellular organismal-level water homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of single-species biofilm formation in or on host organism IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of single-species biofilm formation in or on host organism IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in surfactant homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in surfactant homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IDA
Inferred from Direct Assay
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 extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BPI fold-containing family A member 1
Names
ligand-binding protein RYA3
lung-specific protein X
nasopharyngeal carcinoma-related protein
palate lung and nasal epithelium clone protein
palate, lung and nasal epithelium associated
protein Plunc
secretory protein in upper respiratory tracts
short PLUNC1
tracheal epithelium enriched protein
von Ebner protein Hl

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)

  1. NM_001243193.2 → NP_001230122.1  BPI fold-containing family A member 1 precursor

    See identical proteins and their annotated locations for NP_001230122.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 2. All three variants encode the same protein.
    Source sequence(s)
    AF417256, AF439448
    Consensus CDS
    CCDS13217.1
    UniProtKB/Swiss-Prot
    A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0
    Related
    ENSP00000364571.2, ENST00000375422.6
    Conserved Domains (1) summary
    pfam01273
    Location:69 → 234
    LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain

  2. NM_016583.4 → NP_057667.1  BPI fold-containing family A member 1 precursor

    See identical proteins and their annotated locations for NP_057667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR compared to variant 2. All three variants encode the same protein.
    Source sequence(s)
    AF417257
    Consensus CDS
    CCDS13217.1
    UniProtKB/Swiss-Prot
    A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0
    Related
    ENSP00000364562.4, ENST00000375413.8
    Conserved Domains (1) summary
    pfam01273
    Location:69 → 234
    LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain

  3. NM_130852.3 → NP_570913.1  BPI fold-containing family A member 1 precursor

    See identical proteins and their annotated locations for NP_570913.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AF417257
    Consensus CDS
    CCDS13217.1
    UniProtKB/Swiss-Prot
    A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0
    Related
    ENSP00000346251.4, ENST00000354297.9
    Conserved Domains (1) summary
    pfam01273
    Location:69 → 234
    LBP_BPI_CETP; LBP / BPI / CETP family, N-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
    33235996..33243306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34963235..34970520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP55.1 GenPept UniProtKB/Swiss-Prot:Q9NP55

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