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Aliases for BPIFA1 Gene

Aliases for BPIFA1 Gene

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

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 Nasopharyngeal Carcinoma and Hepatoid Adenocarcinoma. Among its related pathways are Immune System. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPIFA3.

UniProtKB/Swiss-Prot for BPIFA1 Gene

  • Plays a role in the innate immune responses of the upper airways. 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. Binds bacterial lipopolysaccharide (LPS). 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. Plays a role in the airway inflammatory response after exposure to irritants. May attract macrophages and neutrophils. May be associated with tumor progression.

Gene Wiki entry for BPIFA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFA1 Gene

Genomics for BPIFA1 Gene

Regulatory Elements for BPIFA1 Gene

Enhancers for BPIFA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F033285 0.7 FANTOM5 18.3 +49.2 49168 0.2 ZFP3 BPIFB1 BPIFA1 BPIFA3 ENSG00000224876 BPIFB2 PIR39691
GH20F033261 0.6 Ensembl ENCODE 18.1 +26.5 26519 1.4 ELF3 ARID4B ZNF48 RAD21 ZNF143 MIXL1 THAP11 ZNF654 SP5 JUNB ENSG00000224876 BPIFA1 BPIFA3 LOC105372593 RPL12P3
GH20F033277 1 Ensembl ENCODE 15.4 +42.2 42239 1.7 ATF1 MLX ARID4B ZNF48 SLC30A9 SP5 MXD4 PPARG KAT8 SSRP1 BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 PIR39691
GH20F033206 0.6 FANTOM5 11.3 -29.5 -29485 0.1 BPIFA1 BPIFB3 DNMT3B ENSG00000224876 BPIFA4P
GH20F033299 1.1 Ensembl ENCODE 11 +63.3 63285 0.6 ELF3 ATF1 ARID4B ZNF48 ZSCAN9 RAD21 ZNF143 CREM MIXL1 THAP11 RPL12P3 BPIFB1 BPIFA1 ENSG00000224876 BPIFA3 EFCAB8 LOC105372594 BPIFB5P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BPIFA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BPIFA1 Gene

Chromosome:
20
Start:
33,235,995 bp from pter
End:
33,243,311 bp from pter
Size:
7,317 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

Antibody Products

  • Cloud-Clone Corp. Antibodies for BPIFA1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BPIFA1

No data available for DME Specific Peptides for BPIFA1 Gene

Domains & Families for BPIFA1 Gene

Gene Families for BPIFA1 Gene

Suggested Antigen Peptide Sequences for BPIFA1 Gene

GenScript: Design optimal peptide antigens:

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:
Plays a role in the innate immune responses of the upper airways. 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. Binds bacterial lipopolysaccharide (LPS). 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. Plays a role in the airway inflammatory response after exposure to irritants. May attract macrophages and neutrophils. May be associated with tumor progression.
UniProtKB/Swiss-Prot Induction:
By all-trans retinoic acid (ATRA).

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

miRNA for BPIFA1 Gene

miRTarBase miRNAs that target BPIFA1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for BPIFA1 Gene COMPARTMENTS Subcellular localization image for BPIFA1 gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for BPIFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 11425234
GO:0005615 extracellular space IDA 24124190
genes like me logo Genes that share ontologies with BPIFA1: view

Pathways & Interactions for BPIFA1 Gene

SuperPathways for BPIFA1 Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with BPIFA1: view

Pathways by source for BPIFA1 Gene

2 Reactome pathways for BPIFA1 Gene

Gene Ontology (GO) - Biological Process for BPIFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019731 antibacterial humoral response IDA 23499554
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response NAS 11971875
GO:0050828 regulation of liquid surface tension IDA 23499554
GO:0050891 multicellular organismal water homeostasis IDA 24124190
genes like me logo Genes that share ontologies with BPIFA1: view

No data available for SIGNOR curated interactions for BPIFA1 Gene

Transcripts for BPIFA1 Gene

Unigene Clusters for BPIFA1 Gene

BPI fold containing family A, member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
BPIFA1

Expression for BPIFA1 Gene

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

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



NURSA nuclear receptor signaling pathways regulating expression of BPIFA1 Gene:

BPIFA1

SOURCE GeneReport for Unigene cluster for BPIFA1 Gene:

Hs.211092

mRNA Expression by UniProt/SwissProt for BPIFA1 Gene:

Q9NP55-BPIA1_HUMAN
Tissue specificity: Lung, upper airways and nasopharyngeal regions, including trachea and nasal epithelium. Specifically expressed in the secretory ducts and submucosal glands of tracheobronchial tissues. Highest expression in the trachea and progressive decrease from proximal (bronchial) to distal (bronchiolar) airways. Also expressed in lung cancers and some other types of cancer.
genes like me logo Genes that share expression patterns with BPIFA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia BPIFA1 34 35
  • 81.44 (n)
cow
(Bos Taurus)
Mammalia BPIFA1 34 35
  • 81.18 (n)
mouse
(Mus musculus)
Mammalia Bpifa1 34 16 35
  • 79.05 (n)
Bpifa5 35
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bpifa1 34
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia BPIFA1 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPIFA1 35
  • 42 (a)
OneToOne
Species where no ortholog for BPIFA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for BPIFA1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1047595 -- 33,243,149(+) CCATT(C/T)CCTCT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10677320 -- 33,240,580(+) ATGGA(-/TAGA/TGGA/TGGATGGA)CAGAT intron-variant
rs10677321 -- 33,240,645(+) AGATA(-/A/GAT/GATA)AAGTA intron-variant
rs10875488 -- 33,242,967(+) ACTCA(A/G)ACACA intron-variant
rs111799330 -- 33,237,678(+) TTGGA(A/C/G)TTGTC intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
nasopharyngeal carcinoma
  • nasopharynx carcinoma
hepatoid adenocarcinoma
papillary cystadenocarcinoma
  • papillary cystadenocarcinoma, nos
intraocular retinoblastoma
  • pediatric intraocular retinoblastoma
pharynx cancer
  • pharyngeal cancer
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BPIFA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BPIFA1
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. (Int. J. Cancer 2001) 2 3 4 22 64
  2. Purification and characterization of PLUNC from human tracheobronchial secretions. (PMID: 12920053) Campos M.A. … Whitney P.L. (Am. J. Respir. Cell Mol. Biol. 2004) 3 4 22 64
  3. Characterization of the human plunc gene, a gene product with an upper airways and nasopharyngeal restricted expression pattern. (PMID: 11018263) Bingle C.D. … Bingle L. (Biochim. Biophys. Acta 2000) 2 3 4 64
  4. Multifunctional role of human SPLUNC1 in Pseudomonas aeruginosa infection. (PMID: 23132494) Sayeed S. … Di Y.P. (Infect. Immun. 2013) 3 4 64
  5. SPLUNC1/BPIFA1 contributes to pulmonary host defense against Klebsiella pneumoniae respiratory infection. (PMID: 23499554) Liu Y. … Di Y.P. (Am. J. Pathol. 2013) 3 4 64

Products for BPIFA1 Gene

  • Cloud-Clone Corp. Antibodies for BPIFA1
  • Cloud-Clone Corp. Proteins for BPIFA1
  • Cloud-Clone Corp Assay Kits for BPIFA1

Sources for BPIFA1 Gene

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