BPIFB1

BPI fold containing family B, member 1 is a protein that in humans is encoded by the BPIFB1 gene.[5]

BPIFB1
Identifiers
Aliases	BPIFB1, C20orf114, LPLUNC1, BPI fold containing family B member 1
External IDs	MGI: 2137431 HomoloGene: 50047 GeneCards: BPIFB1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.21 Start 33,273,480 bp[1] End 33,309,871 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H1 Start 154,190,818 bp[2] End 154,220,369 bp[2]
Gene ontology Molecular function • lipid binding • molecular function Cellular component • extracellular exosome • extracellular region • extracellular Biological process • innate immune response in mucosa • innate immune system • negative regulation of toll-like receptor 4 signaling pathway • immune system process • antimicrobial humoral response Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	92747	228801
Ensembl	ENSG00000125999	ENSMUSG00000027485
UniProt	Q8TDL5	Q61114
RefSeq (mRNA)	NM_033197	NM_001012392 NM_153418
RefSeq (protein)	NP_149974	NP_001012392 NP_700467
Location (UCSC)	Chr 20: 33.27 – 33.31 Mb	Chr 2: 154.19 – 154.22 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008].

Model organisms

Model organisms have been used in the study of BPIFB1 function. A conditional knockout mouse line called Bpifb1^{tm1e(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12] - in-depth bone and cartilage phenotyping[13]

Bpifb1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[7][12][13]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

1. GRCh38: Ensembl release 89: ENSG00000125999 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027485 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: BPI fold containing family B, member 1".
6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
7. "International Mouse Phenotyping Consortium".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
11. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
12. "Infection and Immunity Immunophenotyping (3i) Consortium".
13. "OBCD Consortium".

External links

• Human BPIFB1 genome location and BPIFB1 gene details page in the UCSC Genome Browser.

Further reading

• Larocque RC, Sabeti P, Duggal P, Chowdhury F, Khan AI, Lebrun LM, Harris JB, Ryan ET, Qadri F, Calderwood SB (Apr 2009). "A variant in long palate, lung and nasal epithelium clone 1 is associated with cholera in a Bangladeshi population" (PDF). Genes and Immunity. 10 (3): 267–72. doi:10.1038/gene.2009.2. PMC 2672110. PMID 19212328.
• Zhang B, Nie X, Xiao B, Xiang J, Shen S, Gong J, Zhou M, Zhu S, Zhou J, Qian J, Lu H, He X, Li X, Hu G, Li G (Sep 2003). "Identification of tissue-specific genes in nasopharyngeal epithelial tissue and differentially expressed genes in nasopharyngeal carcinoma by suppression subtractive hybridization and cDNA microarray". Genes, Chromosomes & Cancer. 38 (1): 80–90. doi:10.1002/gcc.10247. PMID 12874788. S2CID 24805514.
• Bingle CD, Seal RL, Craven CJ (Aug 2011). "Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily". Biochemical Society Transactions. 39 (4): 977–83. doi:10.1042/BST0390977. PMC 3196848. PMID 21787333.
• Bingle CD, Craven CJ (Apr 2002). "PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx". Human Molecular Genetics. 11 (8): 937–43. doi:10.1093/hmg/11.8.937. PMID 11971875.
• Bingle CD, Wilson K, Lunn H, Barnes FA, High AS, Wallace WA, Rassl D, Campos MA, Ribeiro M, Bingle L (May 2010). "Human LPLUNC1 is a secreted product of goblet cells and minor glands of the respiratory and upper aerodigestive tracts". Histochemistry and Cell Biology. 133 (5): 505–15. doi:10.1007/s00418-010-0683-0. PMC 2852594. PMID 20237794.
• Bingle L, Wilson K, Musa M, Araujo B, Rassl D, Wallace WA, LeClair EE, Mauad T, Zhou Z, Mall MA, Bingle CD (Nov 2012). "BPIFB1 (LPLUNC1) is upregulated in cystic fibrosis lung disease". Histochemistry and Cell Biology. 138 (5): 749–58. doi:10.1007/s00418-012-0990-8. PMC 3470695. PMID 22767025.
• Shin OS, Uddin T, Citorik R, Wang JP, Della Pelle P, Kradin RL, Bingle CD, Bingle L, Camilli A, Bhuiyan TR, Shirin T, Ryan ET, Calderwood SB, Finberg RW, Qadri F, Larocque RC, Harris JB (Nov 2011). "LPLUNC1 modulates innate immune responses to Vibrio cholerae". The Journal of Infectious Diseases. 204 (9): 1349–57. doi:10.1093/infdis/jir544. PMC 3182310. PMID 21900486.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.