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

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: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33235996..33243306)
RS_2023_10	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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CC16 drives VLA-2-dependent SPLUNC1 expression.
Title: CC16 drives VLA-2-dependent SPLUNC1 expression.
Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria.
Title: Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria.
[Correlation between the mRNA levels of BCRP and LUNX genes and pathological types and stages of patients with non-small cell lung cancer].
Title: [Correlation between the mRNA levels of BCRP and LUNX genes and pathological types and stages of patients with non-small cell lung cancer].
BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
Title: BPIFA1 is a secreted biomarker of differentiating human airway epithelium.
SPLUNC1 regulates LPS-induced progression of nasopharyngeal carcinoma and proliferation of myeloid-derived suppressor cells.
Title: SPLUNC1 regulates LPS-induced progression of nasopharyngeal carcinoma and proliferation of myeloid-derived suppressor cells.
SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
Title: SPLUNC1 is a negative regulator of the Orai1 Ca(2+) channel.
Relationship between circulating lung-specific X protein messenger ribonucleic acid expression and micrometastasis and prognosis in patients with early-stage nonsmall cell lung cancer.
Title: Relationship between circulating lung-specific X protein messenger ribonucleic acid expression and micrometastasis and prognosis in patients with early-stage nonsmall cell lung cancer.
The SPLUNC1-betaENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
Title: The SPLUNC1-βENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
Degradation of bacterial permeability family member A1 (BPIFA1) by house dust mite (HDM) cysteine protease Der p 1 abrogates immune modulator function.
Title: Degradation of bacterial permeability family member A1 (BPIFA1) by house dust mite (HDM) cysteine protease Der p 1 abrogates immune modulator function.
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Title: A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99153 (e-PCR)
- UniSTS:87043

SHGC-151139 (e-PCR)
- UniSTS:173381

GDB:313139 (e-PCR)
- UniSTS:19786

D20S195 (e-PCR)
- UniSTS:56282

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

General protein information

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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)

NM_001243193.2 → NP_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

A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0

Related

ENSP00000364571.2, ENST00000375422.6

Conserved Domains (1) summary

pfam01273
Location:69 → 234

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
NM_016583.4 → NP_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

A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0

Related

ENSP00000364562.4, ENST00000375413.8

Conserved Domains (1) summary

pfam01273
Location:69 → 234

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
NM_130852.3 → NP_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

A6XMV5, A8K9R3, E1P5M9, Q9NP55, Q9NZT0

Related

ENSP00000346251.4, ENST00000354297.9

Conserved Domains (1) summary

pfam01273
Location:69 → 234

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain