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

Gene ID: 51297, updated on 8-Nov-2022

Summary

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
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Genomic context

See BPIFA1 in Genome Data Viewer
Location:
20q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33235996..33243306)
110 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 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 LOC124904888 Neighboring gene uncharacterized LOC105372594

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 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
PubMed 
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
PubMed 
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
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001243193.2NP_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, Q9NZT0
    Related
    ENSP00000364571.2, ENST00000375422.6
    Conserved Domains (1) summary
    pfam01273
    Location:69234
    LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
  2. NM_016583.4NP_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, Q9NZT0
    Related
    ENSP00000364562.4, ENST00000375413.8
    Conserved Domains (1) summary
    pfam01273
    Location:69234
    LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
  3. NM_130852.3NP_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, Q9NZT0
    Related
    ENSP00000346251.4, ENST00000354297.9
    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 110 details...Open this link in a new tab

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)