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 m... See more...

Aliases for BPIFA1 Gene

Aliases for BPIFA1 Gene

  • BPI Fold Containing Family A Member 1 2 3 5
  • SPLUNC1 2 3 4
  • LUNX 2 3 4
  • Palate Lung And Nasal Epithelium Clone Protein 3 4
  • Secretory Protein In Upper Respiratory Tracts 3 4
  • Palate, Lung And Nasal Epithelium Associated 2 3
  • Nasopharyngeal Carcinoma-Related Protein 3 4
  • BPI Fold-Containing Family A Member 1 3 4
  • Lung-Specific Protein X 3 4
  • Von Ebner Protein Hl 3 4
  • Short PLUNC1 3 4
  • BA49G10.5 2 3
  • PLUNC 3 4
  • SPURT 3 4
  • NASG 3 4
  • Palate, Lung And Nasal Epithelium Carcinoma Associated 2
  • Tracheal Epithelium Enriched Protein 3
  • Tracheal Epithelium-Enriched Protein 4
  • Ligand-Binding Protein RYA3 3
  • Protein Plunc 3
  • BPIFA1 5

External Ids for BPIFA1 Gene

Previous HGNC Symbols for BPIFA1 Gene

  • PLUNC

Previous GeneCards Identifiers for BPIFA1 Gene

  • GC20P031825

Summaries for BPIFA1 Gene

Entrez Gene Summary for BPIFA1 Gene

  • 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]

GeneCards Summary for BPIFA1 Gene

BPIFA1 (BPI Fold Containing Family A Member 1) is a Protein Coding gene. Diseases associated with BPIFA1 include Hepatoid Adenocarcinoma and Eye Disease. Among its related pathways are Innate Immune System and Defensins. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB1.

UniProtKB/Swiss-Prot Summary for BPIFA1 Gene

  • Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC) (PubMed:25223608). Plays a role in the innate immune responses of the upper airways (PubMed:23499554, PubMed:23132494). Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae (PubMed:23499554, PubMed:23132494, PubMed:27145151). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus (PubMed:24124190, PubMed:24043776). Plays a role in the airway inflammatory response after exposure to irritants (PubMed:11425234). May attract macrophages and neutrophils (PubMed:23132494).

Gene Wiki entry for BPIFA1 Gene

Additional gene information for BPIFA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPIFA1 Gene

Genomics for BPIFA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BPIFA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J033235 Promoter 0.3 EPDnew 600.7 0.0 -18 0.1 BPIFA1 BPIFA3
GH20J033261 Enhancer 0.9 Ensembl ENCODE 18.1 +26.1 26105 5.4 GATAD2A CTCF RXRB IRF2 ZBTB26 ZKSCAN8 ZBTB48 YY1 TEAD1 SAP130 RF00951-088 ENSG00000224876 BPIFA1 BPIFA3 BPIFA2 CHMP4B lnc-CDK5RAP1-3 BPIFB1
GH20J033277 Enhancer 1.1 Ensembl ENCODE 15.4 +41.6 41636 2.9 HNRNPL GATAD2A TFE3 SOX13 NFKBIZ KDM1A RCOR2 ZNF7 FOXA1 RXRB BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 piR-46692 CDK5RAP1
GH20J033283 Promoter/Enhancer 1.1 EPDnew Ensembl 11.2 +47.3 47294 0.7 GATAD2A NFKBIZ IRF2 SOX13 ZKSCAN8 ZNF205 KDM6A ZSCAN9 SAP130 ZGPAT BPIFB1 BPIFA1 BPIFA3 ENSG00000224876 piR-46692 CDK5RAP1
GH20J033368 Enhancer 1.1 Ensembl ENCODE 9.3 +136.0 136032 6.1 HNRNPL CREB1 GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 ZNF7 TARDBP SNTA1 PXMP4 ENSG00000229188 ZNF341 BPIFA1 CBFA2T2 AHCY piR-50308-387 lnc-BPIFB1-1 lnc-SNTA1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPIFA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPIFA1

Genomic Locations for BPIFA1 Gene

Genomic Locations for BPIFA1 Gene
chr20:33,235,995-33,243,311
(GRCh38/hg38)
Size:
7,317 bases
Orientation:
Plus strand
chr20:31,823,801-31,831,115
(GRCh37/hg19)
Size:
7,315 bases
Orientation:
Plus strand

Genomic View for BPIFA1 Gene

Genes around BPIFA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPIFA1 Gene

Proteins for BPIFA1 Gene

  • Protein details for BPIFA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP55-BPIA1_HUMAN
    Recommended name:
    BPI fold-containing family A member 1
    Protein Accession:
    Q9NP55
    Secondary Accessions:
    • A6XMV5
    • A8K9R3
    • E1P5M9
    • Q9NZT0

    Protein attributes for BPIFA1 Gene

    Size:
    256 amino acids
    Molecular mass:
    26713 Da
    Quaternary structure:
    • Monomer. Interacts (via N-terminus) with SCNN1B, a subunit of the heterotrimeric epithelial sodium channel (ENaC); this inhibits proteolytic activation of ENaC.

    Three dimensional structures from OCA and Proteopedia for BPIFA1 Gene

    Alternative splice isoforms for BPIFA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPIFA1 Gene

Post-translational modifications for BPIFA1 Gene

Other Protein References for BPIFA1 Gene

No data available for DME Specific Peptides for BPIFA1 Gene

Domains & Families for BPIFA1 Gene

Gene Families for BPIFA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for BPIFA1 Gene

Suggested Antigen Peptide Sequences for BPIFA1 Gene

GenScript: Design optimal peptide antigens:
  • Von Ebner protein Hl (PLUNC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP55

UniProtKB/Swiss-Prot:

BPIA1_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
genes like me logo Genes that share domains with BPIFA1: view

Function for BPIFA1 Gene

Molecular function for BPIFA1 Gene

UniProtKB/Swiss-Prot Function:
Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC) (PubMed:25223608). Plays a role in the innate immune responses of the upper airways (PubMed:23499554, PubMed:23132494). Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae (PubMed:23499554, PubMed:23132494, PubMed:27145151). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus (PubMed:24124190, PubMed:24043776). Plays a role in the airway inflammatory response after exposure to irritants (PubMed:11425234). May attract macrophages and neutrophils (PubMed:23132494).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to all-trans retinoic acid (ATRA) (PubMed:12409287). Up-regulated in tear fluid of patients suffering from dry eye disease (PubMed:26559477). Up-regulated in response to the proinflammatory cytokines IL1B and TNF, and the bacteria E.coli and P.aeruginosa (PubMed:26559477).

Phenotypes From GWAS Catalog for BPIFA1 Gene

Gene Ontology (GO) - Molecular Function for BPIFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFA1: view
genes like me logo Genes that share phenotypes with BPIFA1: view

Animal Models for BPIFA1 Gene

MGI Knock Outs for BPIFA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BPIFA1

CRISPR Products

miRNA for BPIFA1 Gene

miRTarBase miRNAs that target BPIFA1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BPIFA1 Gene

Localization for BPIFA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFA1 Gene

Secreted. Note=Apical side of airway epithelial cells. Detected in airway surface liquid, nasal mucus and sputum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPIFA1 gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BPIFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 21805676
genes like me logo Genes that share ontologies with BPIFA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFA1 Gene

Pathways & Interactions for BPIFA1 Gene

PathCards logo

SuperPathways for BPIFA1 Gene

genes like me logo Genes that share pathways with BPIFA1: view

Pathways by source for BPIFA1 Gene

3 Reactome pathways for BPIFA1 Gene

Gene Ontology (GO) - Biological Process for BPIFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002395 immune response in nasopharyngeal-associated lymphoid tissue IEP 21805676
GO:0019730 antimicrobial humoral response TAS --
GO:0019731 antibacterial humoral response IDA 23499554
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with BPIFA1: view

No data available for SIGNOR curated interactions for BPIFA1 Gene

Drugs & Compounds for BPIFA1 Gene

No Compound Related Data Available

Transcripts for BPIFA1 Gene

mRNA/cDNA for BPIFA1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFA1

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for BPIFA1 Gene

GeneLoc Exon Structure for
BPIFA1

Expression for BPIFA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPIFA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

mRNA differential expression in normal tissues according to GTEx for BPIFA1 Gene

This gene is overexpressed in Lung (x28.1) and Pituitary (x19.9).

Protein differential expression in normal tissues from HIPED for BPIFA1 Gene

This gene is overexpressed in Saliva (25.8), Lavage (21.3), and Nasal epithelium (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFA1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPIFA1

SOURCE GeneReport for Unigene cluster for BPIFA1 Gene:

Hs.211092

mRNA Expression by UniProt/SwissProt for BPIFA1 Gene:

Q9NP55-BPIA1_HUMAN
Tissue specificity: Highly expressed in lung, upper airways and nasopharyngeal regions, including trachea and nasal epithelium (at protein level) (PubMed:11018263, PubMed:11251963, PubMed:12409287, PubMed:11425234, PubMed:26559477). Specifically expressed in the secretory ducts and submucosal glands of tracheobronchial tissues (at protein level) (PubMed:12409287, PubMed:11425234). Also expressed in the eye where it is detected in lacrimal gland, eyelid, conjunctiva and cornea (at protein level) (PubMed:26559477). Specifically localizes to epithelial cell layers in cornea, eyelid (basal epithelium) and conjunctiva (at protein level) (PubMed:26559477). Detected within acinar cells and ducts in the lacrimal and Meibomian glands (at protein level) (PubMed:26559477). In lung, shows highest expression in the trachea and progressive decrease from proximal (bronchial) to distal (bronchiolar) airways (PubMed:12409287). Also expressed in lung cancers and some other types of cancer (PubMed:11251963).

Evidence on tissue expression from TISSUES for BPIFA1 Gene

  • Lung(4.8)
  • Muscle(4.2)
  • Saliva(2.2)
genes like me logo Genes that share expression patterns with BPIFA1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFA1 Gene

Orthologs for BPIFA1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BPIFA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BPIFA1 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BPIFA1 30 31
  • 81.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BPIFA1 30 31
  • 81.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bpifa1 30 17 31
  • 79.05 (n)
OneToMany
Bpifa5 31
  • 55 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Bpifa1 30
  • 78.52 (n)
Oppossum
(Monodelphis domestica)
Mammalia BPIFA1 31
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BPIFA1 31
  • 42 (a)
OneToOne
Species where no ortholog for BPIFA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BPIFA1 Gene

ENSEMBL:
Gene Tree for BPIFA1 (if available)
TreeFam:
Gene Tree for BPIFA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPIFA1: view image

Paralogs for BPIFA1 Gene

Paralogs for BPIFA1 Gene

genes like me logo Genes that share paralogs with BPIFA1: view

Variants for BPIFA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPIFA1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
721598 Benign: not provided 33,240,366(+) C/A MISSENSE_VARIANT
724437 Likely Benign: not provided 33,238,203(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BPIFA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BPIFA1 Gene

Variant ID Type Subtype PubMed ID
esv2751912 CNV loss 17911159
nsv1056411 CNV loss 25217958
nsv1060241 CNV loss 25217958

Variation tolerance for BPIFA1 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFA1 Gene

Human Gene Mutation Database (HGMD)
BPIFA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFA1 Gene

Disorders for BPIFA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BPIFA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatoid adenocarcinoma
eye disease
  • abnormality of the eye
nasopharyngeal carcinoma
  • npc
papillary cystadenocarcinoma
  • cystadenocarcinoma, papillary
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with BPIFA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BPIFA1 Gene

Publications for BPIFA1 Gene

  1. Isolation of a novel human lung-specific gene, LUNX, a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. (PMID: 11251963) Iwao K … Tanigami A (International journal of cancer 2001) 2 3 4 23
  2. Purification and characterization of PLUNC from human tracheobronchial secretions. (PMID: 12920053) Campos MA … Whitney PL (American journal of respiratory cell and molecular biology 2004) 3 4 23
  3. Characterisation of the human plunc gene, a gene product with an upper airways and nasopharyngeal restricted expression pattern. (PMID: 11018263) Bingle CD … Bingle L (Biochimica et biophysica acta 2000) 2 3 4
  4. Palate Lung Nasal Clone (PLUNC), a Novel Protein of the Tear Film: Three-Dimensional Structure, Immune Activation, and Involvement in Dry Eye Disease (DED). (PMID: 26559477) Schicht M … Paulsen F (Investigative ophthalmology & visual science 2015) 3 4
  5. Structural characterization of the pulmonary innate immune protein SPLUNC1 and identification of lipid ligands. (PMID: 25223608) Ning F … Zhang G (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2014) 3 4

Products for BPIFA1 Gene

Sources for BPIFA1 Gene