Human Gene NFKBIL1 (uc011gyc.2) Description and Page Index
  Description: Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.
RefSeq Summary (NM_005007): This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,858,244-2,869,496 Size: 11,253 Total Exon Count: 4 Strand: +
Coding Region
   Position: chr6_mann_hap4:2,858,363-2,869,278 Size: 10,916 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: IKBL1_HUMAN
DESCRIPTION: RecName: Full=NF-kappa-B inhibitor-like protein 1; AltName: Full=Inhibitor of kappa B-like protein; Short=I-kappa-B-like protein; Short=IkappaBL; AltName: Full=Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1;
FUNCTION: Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli.
SUBUNIT: Interacts with CACTIN (via N-terminus domain); the interaction occurs in a proinflammatory-independent manner.
SUBCELLULAR LOCATION: Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with CACTIN in the nucleus.
TISSUE SPECIFICITY: Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.
DISEASE: Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
SIMILARITY: Contains 2 ANK repeats.
SEQUENCE CAUTION: Sequence=BAG62473.1; Type=Erroneous termination; Positions=255; Note=Translated as Glu;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: NFKBIL1
CDC HuGE Published Literature: NFKBIL1
Positive Disease Associations: Behcet Syndrome , diabetes, type 1 , myocardial infarct , ulcerative colitis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.20119-0.455 Picture PostScript Text
3' UTR -78.30218-0.359 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q9UBC1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK300818 - Homo sapiens cDNA FLJ50875 complete cds, highly similar to NF-kappa-B inhibitor-like protein 1.
AK291893 - Homo sapiens cDNA FLJ76902 complete cds, highly similar to Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), mRNA.
X77909 - H.sapiens IKBL mRNA.
BC105064 - Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, mRNA (cDNA clone MGC:132724 IMAGE:8144067), complete cds.
BC105068 - Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, mRNA (cDNA clone MGC:132728 IMAGE:8144071), complete cds.
BC143671 - Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, mRNA (cDNA clone MGC:177202 IMAGE:9052185), complete cds.
AK313888 - Homo sapiens cDNA, FLJ94523.
AF097419 - Homo sapiens 10IHW 9022 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097420 - Homo sapiens 4AOH 100044V IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097421 - Homo sapiens 10IHW 9082 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738C allele, complete cds.
AF097422 - Homo sapiens 10IHW 9013 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738C allele, complete cds.
AF097423 - Homo sapiens 10IHW 9052 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097424 - Homo sapiens 4AOH 100083J IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097425 - Homo sapiens 10IHW 9090 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097426 - Homo sapiens 10IHW 9027 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097427 - Homo sapiens 10IHW 9041 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097428 - Homo sapiens 10IHW 9006 IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AF097429 - Homo sapiens 4AOH 100108V IkBL protein (NFKBIL1) mRNA, NFKBIL1-+738T allele, complete cds.
AB527477 - Synthetic construct DNA, clone: pF1KB7638, Homo sapiens NFKBIL1 gene for nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, without stop codon, in Flexi system.
EU446511 - Synthetic construct Homo sapiens clone IMAGE:100069892; IMAGE:100011720; FLH257083.01L nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1) gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DUW1, IKBL, IKBL1_HUMAN, NM_005007, NP_001138434, Q14625, Q5HYU4, Q5STV5, Q9UBC1, Q9UBX4
UCSC ID: uc011gyc.2
RefSeq Accession: NM_005007
Protein: Q9UBC1 (aka IKBL1_HUMAN