NFKBIL1
NF-kappa-B inhibitor-like protein 1 is a protein that in humans is encoded by the NFKBIL1 gene.[5][6]
Function
This gene encodes a divergent member of the I-kappa-B family of proteins. Its function is unclear. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6.[6]
Model organisms
Model organisms have been used in the study of NFKBIL1 function. A conditional knockout mouse line called Nfkbil1tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13]
| Characteristic | Phenotype |
|---|---|
| All data available at.[8][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 |
| Trichuris Challenge | Normal |
References
- ENSG00000234530, ENSG00000236346, ENSG00000235125, ENSG00000236196, ENSG00000204498, ENSG00000227565 GRCh38: Ensembl release 89: ENSG00000206440, ENSG00000234530, ENSG00000236346, ENSG00000235125, ENSG00000236196, ENSG00000204498, ENSG00000227565 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000042419 - Ensembl, May 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.
- Albertella MR, Campbell RD (May 1994). "Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins". Human Molecular Genetics. 3 (5): 793–9. doi:10.1093/hmg/3.5.793. PMID 8081366.
- "Entrez Gene: NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 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. S2CID 85911512.
- "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. S2CID 18872015.
- 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, 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 (Jul 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.
- "Infection and Immunity Immunophenotyping (3i) Consortium".
Further reading
- Iris FJ, Bougueleret L, Prieur S, Caterina D, Primas G, Perrot V, Jurka J, Rodriguez-Tome P, Claverie JM, Dausset J (Feb 1993). "Dense Alu clustering and a potential new member of the NF kappa B family within a 90 kilobase HLA class III segment". Nature Genetics. 3 (2): 137–45. doi:10.1038/ng0293-137. PMID 8499947. S2CID 33041319.
- Shiina T, Tamiya G, Oka A, Yamagata T, Yamagata N, Kikkawa E, Goto K, Mizuki N, Watanabe K, Fukuzumi Y, Taguchi S, Sugawara C, Ono A, Chen L, Yamazaki M, Tashiro H, Ando A, Ikemura T, Kimura M, Inoko H (Feb 1998). "Nucleotide sequencing analysis of the 146-kilobase segment around the IkBL and MICA genes at the centromeric end of the HLA class I region". Genomics. 47 (3): 372–82. doi:10.1006/geno.1997.5114. PMID 9480751.
- Neville MJ, Campbell RD (Apr 1999). "A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC". Journal of Immunology. 162 (8): 4745–54. PMID 10202016.
- Allcock RJ, Christiansen FT, Price P (Jul 1999). "The central MHC gene IKBL carries a structural polymorphism that is associated with HLA-A3,B7,DR15". Immunogenetics. 49 (7–8): 660–5. doi:10.1007/s002510050662. PMID 10369924. S2CID 32440895.
- Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H (Feb 2003). "Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis". American Journal of Human Genetics. 72 (2): 303–12. doi:10.1086/346067. PMC 379224. PMID 12509789.
- Lin CH, Cho CL, Tsai WC, Ou TT, Wu CC, Yen JH, Liu HW (Jun 2006). "Inhibitors of kB-like gene polymorphisms in rheumatoid arthritis". Immunology Letters. 105 (2): 193–7. doi:10.1016/j.imlet.2006.03.003. PMID 16644022.
- Glas J, Török HP, Tonenchi L, Müller-Myhsok B, Mussack T, Wetzke M, Klein W, Epplen JT, Griga T, Schiemann U, Lohse P, Seiderer J, Schnitzler F, Brand S, Ochsenkühn T, Folwaczny M, Folwaczny C (Jul 2006). "Role of the NFKB1 -94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN genes". Inflammatory Bowel Diseases. 12 (7): 606–11. doi:10.1097/01.ibd.0000225346.23765.6b. PMID 16804398. S2CID 25535173.
- Koch W, Hoppmann P, Michou E, Jung V, Pfeufer A, Mueller JC, Gieger C, Wichmann HE, Meitinger T, Schömig A, Kastrati A (Aug 2007). "Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans". Human Molecular Genetics. 16 (15): 1821–7. doi:10.1093/hmg/ddm130. PMID 17517687.
- Ramasawmy R, Faé KC, Cunha-Neto E, Borba SC, Ianni B, Mady C, Goldberg AC, Kalil J (Jan 2008). "Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas' cardiomyopathy among Trypanosoma cruzi-infected individuals". Molecular Immunology. 45 (1): 283–8. doi:10.1016/j.molimm.2007.04.015. PMID 17544510.
- Kariz S, Milutinović A, Bregar D, Terzić I, Terzić R, Lovrecić L, Herova M, Hruskovicova H, Peterlin B, Petrovic D, Zorc-Pleskovic R (Jun 2007). "The interleukin-1 receptor antagonist gene and the inhibitor of kappa B-like protein gene polymorphisms are not associated with myocardial infarction in Slovene population with type 2 diabetes". Collegium Antropologicum. 31 (2): 503–7. PMID 17847930.
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