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

    Gene ID: 51297, updated on 14-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33235996..33243306)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34963235..34970520)
    RS_2024_09 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 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. The effects of physical exercise and smoking habits on the expression of SPLUNC1 in nasal lavage fluids from allergic rhinitis subjects. Irander K, et al. Int J Pediatr Otorhinolaryngol, 2014 Apr. PMID 24512783
    2. SPLUNC1 is an allosteric modulator of the epithelial sodium channel. Kim CS, et al. FASEB J, 2018 May. PMID 29295861, Free PMC Article
    3. Gene expression profiling with microarray and SAGE identifies PLUNC as a marker for hepatoid adenocarcinoma of the stomach. Sentani K, et al. Mod Pathol, 2008 Apr. PMID 18204429
    4. PLUNC is a secreted product of neutrophil granules. Bartlett JA, et al. J Leukoc Biol, 2008 May. PMID 18245229
    5. Diagnostic utility of LunX mRNA in peripheral blood and pleural fluid in patients with primary non-small cell lung cancer. Cheng M, et al. BMC Cancer, 2008 May 31. PMID 18513434, Free PMC Article

    See all (108) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELD607 specifically traffics Orai1 to the lysosome leading to inhibition of store operated calcium entry.
      Title: ELD607 specifically traffics Orai1 to the lysosome leading to inhibition of store operated calcium entry.
    2. CC16 drives VLA-2-dependent SPLUNC1 expression.
      Title: CC16 drives VLA-2-dependent SPLUNC1 expression.
    3. 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.
    4. [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].
    5. BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
      Title: BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
    6. 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.
    7. SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
      Title: SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (73)

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    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_2024_08

    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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