BPIFB1

BPIFB1
Identifikatori
Aliasi	BPIFB1
Vanjski ID-jevi	MGI: 2137431 HomoloGene: 50047 GeneCards: BPIFB1
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	33,309,871 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	154,062,289 bp
Ontologija gena
Molekularna funkcija	• lipid binding; • molekularna funkcija;
Ćelijska komponenta	• Egzosom; • extracellular region; • Vanćelijsko;
Biološki proces	• innate immune response in mucosa; • Urođeni imunski sistem; • negative regulation of toll-like receptor 4 signaling pathway; • immune system process; • antimicrobial humoral response;
	Izvori:Amigo / QuickGO
Ortolozi
	92747
	228801
	ENSG00000125999
	ENSMUSG00000027485
	Q8TDL5
	Q61114
	NM_033197
	NM_001012392; NM_153418
	NP_149974
	NP_001012392; NP_700467
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 1 porodice savijanja BPI je protein koji je kod ljudi kodiran genom BPIFB1.^[5]

Funkcija

Protein koji kodira ovaj gen može biti uključen u urođeni imunski odgovor na bakterijsku izloženost u ustima, nosnim šupljinama i plućima. Kodirani protein se izlučuje i član je natporodice BPI / LBP / PLUNC. Ovaj gen kod ostalih članova naporodice nalazi se u klasteru na 20. hromosomu [prema RefSeq, 2008.].

Model organizmi

U proučavanju funkcije BPIFB1 korišteni su modelni organizmi. Uslovna linija nokaut miš zvana Bpifb1^{tm1e(KOMP)Wtsi} generirana je na Wellcome Trust Sanger Institute.^[6] Muške i ženske životinje prošle su standardizirani fenotipski skrining^[7] kako bi se utvrdili efekti delecija.^[8]^[9]^[10]^[11] Izvršeni dodatni pregledi: – Dubinsko imunsko fenotipiziranje ^[12] – dubinsko fenotipiziranje kostiju i hrskavice ^[13]

*Bpifb1* fenotip mokaut miša
Obilježje	Fenotip
Svi podaci su prema.^[7]^[12]^[13]
Leukociti periferne krvi 6 sedmica	Normalni
Insulin	Normal
Hematologija 6 sedmica	Normal
Vijabilnost homozigota na P14	Normalna
Fertilnost homozigota	Normalna
Tjelesna težina	Normalna
Neurološka procjena	Normalna
Snaga prianjanja	Normalna
Dismorfologija	Normalna
Indirektna kalorimetrija	Normalna
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog debla	Normalan
DEXA	Normalna
Radiografija	Normalna
Morfologija oka	Normalna
Klinička hemija	Normalna
Hematologija 16 sedmica	Normalna
Leukociti periferne krvi 16 sedmica	Normalni
Težina srca	Normalna
Infekcija salmonelom	Normalna
Citotoksična funkcija T-ćelija	Normalna
Imunofenotipizacija slezene	Normalna
Imunofenotipizacija mezenternih limfnih čvorova	Normalni
Imunofenotipizacija koštane srži	Normalna
Imunski sastav epiderme	Normalan

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125999 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027485 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: BPI fold containing family B, member 1".
^ 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.
^ ^a ^b "International Mouse Phenotyping Consortium".
^ 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.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ 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.
^ ^a ^b "Infection and Immunity Immunophenotyping (3i) Consortium". Arhivirano s originala, 21. 5. 2015. Pristupljeno 1. 5. 2021.
^ ^a ^b "OBCD Consortium". Arhivirano s originala, 12. 8. 2020. Pristupljeno 1. 5. 2021.

Vanjski linkovi

Lokacija ljudskog genoma BPIFB1 i stranica sa detaljima o genu BPIFB1 u UCSC Genome Browseru.

Dopunska literatura

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.
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 (maj 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125999 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027485 - Ensembl, maj 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.

[entrez-5] "Entrez Gene: BPI fold containing family B, member 1".

[mgp_reference-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.

[IMPCsearch_ref-7] "International Mouse Phenotyping Consortium".

[pmid21677750-8] 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.

[mouse_library-9] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid23870131-11] 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.

[iii_ref-12] "Infection and Immunity Immunophenotyping (3i) Consortium". Arhivirano s originala, 21. 5. 2015. Pristupljeno 1. 5. 2021.

[obcd_ref-13] "OBCD Consortium". Arhivirano s originala, 12. 8. 2020. Pristupljeno 1. 5. 2021.

[5]

[1]

[2]

[3]

[4]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]