NFKBIL1

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
Identifiers
Symbols	NFKBIL1 ; IKBL; LST1; NFKBIL
External IDs	OMIM: 601022 MGI: 1340031 HomoloGene: 3671 GeneCards: NFKBIL1 Gene
Gene ontology Molecular function • protein binding Cellular component • nucleus • nucleoplasm • cytosol • intermediate filament cytoskeleton Biological process • I-kappaB kinase/NF-kappaB signaling • negative regulation of lipopolysaccharide-mediated signaling pathway • negative regulation of NF-kappaB transcription factor activity • negative regulation of tumor necrosis factor production • negative regulation of toll-like receptor signaling pathway • cytoplasmic sequestering of transcription factor • cellular response to lipopolysaccharide Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4795	18038
Ensembl	ENSG00000204498	ENSMUSG00000042419
UniProt	Q9UBC1	O88995
RefSeq (mRNA)	NM_001144961	NM_010909
RefSeq (protein)	NP_001138433	NP_035039
Location (UCSC)	Chr 6: 31.55 – 31.56 Mb	Chr 17: 35.22 – 35.24 Mb
PubMed search

NF-kappa-B inhibitor-like protein 1 is a protein that in humans is encoded by the NFKBIL1 gene.^[1][2]

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.^[2]

Model organisms

Model organisms have been used in the study of NFKBIL1 function. A conditional knockout mouse line called Nfkbil1^{tm1a(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[3] Male and female animals underwent a standardized phenotypic screen^[4] to determine the effects of deletion.^[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping^[9]

Nfkbil1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[4][9]
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

1. 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.
2. "Entrez Gene: NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1".
3. 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.
4. "International Mouse Phenotyping Consortium".
5. 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.
6. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
7. 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.
8. 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.
9. "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.
• 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.
• 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.
• 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.