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

    Gene ID: 51297, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000032243
    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]
    Orthologs
    Location:
    20q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (33235996..33243309)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31823802..31831115)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene BPI fold containing family A member 4, pseudogene Neighboring gene BPI fold containing family A member 3 Neighboring gene uncharacterized LOC105372593 Neighboring gene ribosomal protein L12 pseudogene 3 Neighboring gene BPI fold containing family B member 1 Neighboring gene uncharacterized LOC105372594

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_001243193.1NP_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
      Q9NP55
      Related
      ENSP00000364571.2, OTTHUMP00000030627, ENST00000375422.6, OTTHUMT00000078668
      Conserved Domains (1) summary
      pfam01273
      Location:69234
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
    2. NM_016583.3NP_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
      Q9NP55
      Related
      ENSP00000364562.4, OTTHUMP00000030625, ENST00000375413.8, OTTHUMT00000078666
      Conserved Domains (1) summary
      pfam01273
      Location:69234
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
    3. NM_130852.2NP_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
      Q9NP55
      Related
      ENSP00000346251.4, OTTHUMP00000030626, ENST00000354297.8, OTTHUMT00000078667
      Conserved Domains (1) summary
      pfam01273
      Location:69234
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      33235996..33243309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      31724914..31732227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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