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
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
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.
ModBase Predicted Comparative 3D Structure on Q9UBC1
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.