BPIFA1 (BPI fold containing family A member 1)

2011-08-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
LUNX,NASG,PLUNC,SPLUNC1,SPURT,bA49G10.5
FUSION GENES

Other Information

Locus ID:

NCBI: 51297
MIM: 607412
HGNC: 15749
Ensembl: ENSG00000198183

Variants:

dbSNP: 51297
ClinVar: 51297
TCGA: ENSG00000198183
COSMIC: BPIFA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198183ENST00000354297Q9NP55
ENSG00000198183ENST00000375413Q9NP55
ENSG00000198183ENST00000375422Q9NP55
ENSG00000198183ENST00000618484Q9NP55

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Antimicrobial peptidesREACTOMER-HSA-6803157

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240437762013Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways.81
195416052009SPLUNC1 regulates airway surface liquid volume by protecting ENaC from proteolytic cleavage.75
119718752002PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx.67
201617322010PLUNC is a novel airway surfactant protein with anti-biofilm activity.53
226760622012Reduced expression of antimicrobial PLUNC proteins in nasal polyp tissues of patients with chronic rhinosinusitis.42
209490602010The multifunctional host defense peptide SPLUNC1 is critical for homeostasis of the mammalian upper airway.39
124092872003Molecular cloning and characterization of spurt, a human novel gene that is retinoic acid-inducible and encodes a secretory protein specific in upper respiratory tracts.38
216327172011Antimicrobial activity of PLUNC protects against Pseudomonas aeruginosa infection.38
241241902013Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.37
180498662008Effect of SPLUNC1 protein on the Pseudomonas aeruginosa and Epstein-Barr virus.35

Citation

Dessen P

BPIFA1 (BPI fold containing family A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52329/bpifa1