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

Gene ID: 51297, updated on 13-Mar-2020

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
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

Genomic context

See BPIFA1 in Genome Data Viewer
Location:
20q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (33235996..33243306)
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

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
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 

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)

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
    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
    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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    33235996..33243306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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