BPIFA1 BPI fold containing family A, member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: BPIFA1provided by HGNC
Official Full Name: BPI fold containing family A, member 1provided by HGNC
Primary source: HGNC:15749
Locus tag: UNQ787/PRO1606
See related: Ensembl:ENSG00000198183; HPRD:07594; 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; LPLUNC3; 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 exact biological function of this gene is not known, however, it has been suggested to be involved in inflammatory responses to irritants in the upper airways. It 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 2011]

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Genomic context

Location :: 20q11.2

Sequence :: Chromosome: 20; NC_000020.10 (31823802..31831115)

See BPIFA1 in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

RSV-positive boys had significantly less 25 kDa SPLUNC1 than RSV-negative boys while there were no significant differences among girls
Title: Innate immunity proteins and a new truncated form of SPLUNC1 in nasopharyngeal aspirates from infants with respiratory syncytial virus infection.
LUNX gene sequences from +3770 to +3959 bp and +14553 to +14652 bp possess the capacity to enhance gene transcription.
Title: [Cloning of human LUNX gene enhancers and analysis of transcriptional regulation].
The LUNX mRNA expression in the lymph nodes was closely related to the pathological type, cancer cell differentiation and clinical stage of non-small cell lung cancer.
Title: [LUNX mRNA in regional lymph nodes of non-small cell lung cancer patients by RT-PCR and its clinical significance].
Functional roles of SPLUNC1 in the innate immune response against Gram-negative bacteria
Title: Functional roles of SPLUNC1 in the innate immune response against Gram-negative bacteria.
PLUNC is a multifunctional protein, which plays a novel role in airway defences at the air/liquid interface
Title: PLUNC: a multifunctional surfactant of the airways.
PLUNC transgene is associated with enhanced bacterial killing and decreased inflammation after exposure with a major human airway pathogen, the Gram-negative bacterium Pseudomonas aeruginosa, both in vitro and in vivo.
Title: Antimicrobial activity of PLUNC protects against Pseudomonas aeruginosa infection.
Expression of Cu/ZnSOD and PLUNC in in chronic sinusitis was higher than in normal tissue, and expression in nasal polyp tissue was lower than in normal tissue.
Title: [Expression and significance of Cu/ZnSOD and PLUNC protein in chronic sinusitis and nasal polyp tissue].
data have provided the first in vivo evidence that cSPLUNC1 functions to maintain homeostasis of the upper airway and, thereby, is critical for protection of the middle ear
Title: The multifunctional host defense peptide SPLUNC1 is critical for homeostasis of the mammalian upper airway.
SPLUNC1 potently reduced surface levels of the epithelial sodium channel (ENaC)in bronchial epithelial cells and Xenopus laevis oocytes.
Title: SPLUNC1 expression reduces surface levels of the epithelial sodium channel (ENaC) in Xenopus laevis oocytes.
Data suggest that the PLUNC protein contributes to the surfactant properties of airway secretions, and that this activity may interfere with biofilm formation by an airway pathogen.
Title: PLUNC is a novel airway surfactant protein with anti-biofilm activity.

Submit: New GeneRIF Correction See all (26)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9NP55	Q9NRR5	UBQLN4	HPRD	PubMed
BioGRID:119448	BioGRID:212198	Ikbip	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119448	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
lipid binding	IEA Inferred from Electronic Annotation more info
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
innate immune response	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: BPI fold-containing family A member 1

Names: BPI fold-containing family A member 1; protein Plunc; von Ebner protein Hl; lung-specific protein X; ligand-binding protein RYA3; tracheal epithelium enriched protein; tracheal epithelium-enriched protein; nasopharyngeal carcinoma-related protein; palate, lung and nasal epithelium associated; secretory protein in upper respiratory tracts; palate lung and nasal epithelium clone protein

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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)

NM_001243193.1 → NP_001230122.1 BPI fold-containing family A member 1 precursor

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

UniProtKB/Swiss-Prot

Q9NP55

Conserved Domains (1) summary

cl00188
Location:94 – 230
Blast Score: 275

BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...
NM_016583.3 → NP_057667.1 BPI fold-containing family A member 1 precursor

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, OTTHUMP00000030625, ENST00000375413, OTTHUMT00000078666

Conserved Domains (1) summary

cl00188
Location:94 – 230
Blast Score: 275

BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...
NM_130852.2 → NP_570913.1 BPI fold-containing family A member 1 precursor

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, OTTHUMP00000030626, ENST00000354297, OTTHUMT00000078667

Conserved Domains (1) summary

cl00188
Location:94 – 230
Blast Score: 275

BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p5 Primary Assembly

Range

31823802..31831115

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

28611406..28618725

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF214562.1	AAG13653.1
genomic	AF421369.1	AAO12200.1
genomic	AL121901.20	CAC03549.1
genomic	CH471077.2	EAW76327.1
		EAW76328.1
		EAW76329.1
mRNA	AB024937.1	BAA93633.1
mRNA	AF158745.1	AAF82622.1
mRNA	AF172993.1	AAF70860.1
mRNA	AF417256.1	AAO12198.1
mRNA	AF417257.1	AAO12199.1
mRNA	AF439448.1	AAL87636.1
mRNA	AK292778.1	BAF85467.1
mRNA	AY359020.1	AAQ89379.1
mRNA	BC012549.1	AAH12549.1
mRNA	DQ846869.1	ABI63356.1
other-genetic	HQ447374.1	ADQ31860.1