Human Gene NFKBIL1 (ENST00000376148.9_10) from GENCODE V47lift37
  Description: NFKB inhibitor like 1, transcript variant 1 (from RefSeq NM_005007.4)
Gencode Transcript: ENST00000376148.9_10
Gencode Gene: ENSG00000204498.11_13
Transcript (Including UTRs)
   Position: hg19 chr6:31,515,385-31,526,606 Size: 11,222 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr6:31,515,472-31,526,388 Size: 10,917 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,515,385-31,526,606)mRNA (may differ from genome)Protein (381 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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BioGrid CRISPR DB

-  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: Defects in NFKBIL1 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a systemic 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.
SIMILARITY: Contains 2 ANK repeats.
SEQUENCE CAUTION: Sequence=BAG62473.1; Type=Erroneous termination; Positions=255; Note=Translated as Glu;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NFKBIL1
Diseases sorted by gene-association score: rheumatoid arthritis* (244)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.14 RPKM in Ovary
Total median expression: 653.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.9087-0.470 Picture PostScript Text
3' UTR -69.80218-0.320 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

Pfam Domains:
PF13637 - Ankyrin repeats (many copies)

SCOP Domains:
48498 - Tetracyclin repressor-like, C-terminal domain
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q9UBC1
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032720 negative regulation of tumor necrosis factor production
GO:0034122 negative regulation of toll-like receptor signaling pathway
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0071222 cellular response to lipopolysaccharide

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  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.
JD075775 - Sequence 56799 from Patent EP1572962.
JD242038 - Sequence 223062 from Patent EP1572962.
JD164397 - Sequence 145421 from Patent EP1572962.
JD459914 - Sequence 440938 from Patent EP1572962.
JD147533 - Sequence 128557 from Patent EP1572962.
JD437315 - Sequence 418339 from Patent EP1572962.
JD442701 - Sequence 423725 from Patent EP1572962.
JD079124 - Sequence 60148 from Patent EP1572962.
JD200630 - Sequence 181654 from Patent EP1572962.
JD222235 - Sequence 203259 from Patent EP1572962.
JD476085 - Sequence 457109 from Patent EP1572962.
JD464858 - Sequence 445882 from Patent EP1572962.
JD151468 - Sequence 132492 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NL91, B4DUW1, ENST00000376148.1, ENST00000376148.2, ENST00000376148.3, ENST00000376148.4, ENST00000376148.5, ENST00000376148.6, ENST00000376148.7, ENST00000376148.8, IKBL, IKBL1_HUMAN, NM_005007, Q14625, Q5HYU4, Q5RJ72, Q5ST96, Q5STV4, Q5STV5, Q9UBC1, Q9UBX4, uc318mtn.1, uc318mtn.2
UCSC ID: ENST00000376148.9_10
RefSeq Accession: NM_005007.4
Protein: Q9UBC1 (aka IKBL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.