Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NFKBIL1 Gene

Aliases for NFKBIL1 Gene

  • NFKB Inhibitor Like 1 2 3 5
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor-Like 1 2 3 4
  • NF-Kappa-B Inhibitor-Like Protein 1 2 3
  • Inhibitor Of Kappa B-Like Protein 3 4
  • I-Kappa-B-Like Protein 3 4
  • IkappaBL 3 4
  • IKBL 3 4
  • NFKBIL 3
  • LST1 3

External Ids for NFKBIL1 Gene

Previous HGNC Symbols for NFKBIL1 Gene

  • NFKBIL

Previous GeneCards Identifiers for NFKBIL1 Gene

  • GC06P031578
  • GC06P031285
  • GC06P031619
  • GC06P031623
  • GC06P031514

Summaries for NFKBIL1 Gene

Entrez Gene Summary for NFKBIL1 Gene

  • 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]

GeneCards Summary for NFKBIL1 Gene

NFKBIL1 (NFKB Inhibitor Like 1) is a Protein Coding gene. Diseases associated with NFKBIL1 include Rheumatoid Arthritis.

UniProtKB/Swiss-Prot for NFKBIL1 Gene

  • 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.

Gene Wiki entry for NFKBIL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFKBIL1 Gene

Genomics for NFKBIL1 Gene

Regulatory Elements for NFKBIL1 Gene

Enhancers for NFKBIL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F031352 0.8 FANTOM5 ENCODE 55.2 -190.7 -190660 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 LY6G5B DDX39B ATF6B NFKBIL1 LSM2 PPP1R10 DHX16 HLA-C PPT2 GTF2H4
GH06F031619 1.2 ENCODE 53.9 +74.4 74377 4.0 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC DDX39B LSM2 LY6G5B ATF6B PPT2 NFKBIL1 EGFL8 GTF2H4 BAG6 DHX16
GH06F032243 0.8 Ensembl ENCODE 43.8 +697.9 697857 1.4 ZNF493 ARID4B ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 ZNF202 NCOA1 LY6G5B BRD2 ATF6B PPT2 DDX39B LSM2 NFKBIL1 EGFL8 RXRB HLA-DRB1
GH06F030907 1 ENCODE 34.5 -638.4 -638394 2.2 CREB3L1 YBX1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC HCG18 GTF2H4 DDX39B LY6G5B DHX16 ABCF1 VARS2 LSM2 PPP1R10 NFKBIL1
GH06F030939 0.6 ENCODE 25.7 -606.2 -606223 1.5 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 GTF2H4 HCG18 LSM2 NFKBIL1 PPP1R10 DDX39B LY6G5B MICA PAIP1P1 ZNRD1ASP
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NFKBIL1 on UCSC Golden Path with GeneCards custom track

Promoters for NFKBIL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000487857 250 2200 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for NFKBIL1 Gene

Chromosome:
6
Start:
31,546,851 bp from pter
End:
31,558,829 bp from pter
Size:
11,979 bases
Orientation:
Plus strand

Genomic View for NFKBIL1 Gene

Genes around NFKBIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKBIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFKBIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for NFKBIL1 Gene

  • Protein details for NFKBIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBC1-IKBL1_HUMAN
    Recommended name:
    NF-kappa-B inhibitor-like protein 1
    Protein Accession:
    Q9UBC1
    Secondary Accessions:
    • A6NL91
    • B4DUW1
    • Q14625
    • Q5HYU4
    • Q5RJ72
    • Q5ST96
    • Q5STV4
    • Q5STV5
    • Q9UBX4

    Protein attributes for NFKBIL1 Gene

    Size:
    381 amino acids
    Molecular mass:
    43204 Da
    Quaternary structure:
    • Interacts with CACTIN (via N-terminal domain); the interaction occurs in a proinflammatory-independent manner.
    SequenceCaution:
    • Sequence=BAG62473.1; Type=Erroneous termination; Positions=255; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for NFKBIL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFKBIL1 Gene

Post-translational modifications for NFKBIL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NFKBIL1 Gene

No data available for DME Specific Peptides for NFKBIL1 Gene

Domains & Families for NFKBIL1 Gene

Protein Domains for NFKBIL1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UBC1

UniProtKB/Swiss-Prot:

IKBL1_HUMAN :
  • Contains 2 ANK repeats.
Similarity:
  • Contains 2 ANK repeats.
genes like me logo Genes that share domains with NFKBIL1: view

No data available for Gene Families for NFKBIL1 Gene

Function for NFKBIL1 Gene

Molecular function for NFKBIL1 Gene

GENATLAS Biochemistry:
nuclear transcription factor of kappa light chain gene enhancer in B cells (NF-kappa B) inhibitor ar,like 1,sequestering it in the cytoplasm,also inhibiting NF-kappa B DNA binding
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NFKBIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20829348
genes like me logo Genes that share ontologies with NFKBIL1: view
genes like me logo Genes that share phenotypes with NFKBIL1: view

Animal Models for NFKBIL1 Gene

MGI Knock Outs for NFKBIL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NFKBIL1

miRNA for NFKBIL1 Gene

miRTarBase miRNAs that target NFKBIL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NFKBIL1 Gene

Localization for NFKBIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKBIL1 Gene

Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with CACTIN in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFKBIL1 Gene COMPARTMENTS Subcellular localization image for NFKBIL1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for NFKBIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20829348
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with NFKBIL1: view

Pathways & Interactions for NFKBIL1 Gene

SuperPathways for NFKBIL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NFKBIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007249 I-kappaB kinase/NF-kappaB signaling IEA,IBA --
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway IDA 20829348
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 20829348
GO:0032720 negative regulation of tumor necrosis factor production IMP 20829348
GO:0034122 negative regulation of toll-like receptor signaling pathway IDA 20829348
genes like me logo Genes that share ontologies with NFKBIL1: view

No data available for Pathways by source and SIGNOR curated interactions for NFKBIL1 Gene

Transcripts for NFKBIL1 Gene

Unigene Clusters for NFKBIL1 Gene

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIL1 Gene

No ASD Table

Relevant External Links for NFKBIL1 Gene

GeneLoc Exon Structure for
NFKBIL1
ECgene alternative splicing isoforms for
NFKBIL1

Expression for NFKBIL1 Gene

mRNA expression in normal human tissues for NFKBIL1 Gene

Protein differential expression in normal tissues from HIPED for NFKBIL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (54.5) and Fetal testis (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NFKBIL1 Gene



Protein tissue co-expression partners for NFKBIL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NFKBIL1 Gene:

NFKBIL1

SOURCE GeneReport for Unigene cluster for NFKBIL1 Gene:

Hs.2764

mRNA Expression by UniProt/SwissProt for NFKBIL1 Gene:

Q9UBC1-IKBL1_HUMAN
Tissue specificity: Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.
genes like me logo Genes that share expression patterns with NFKBIL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NFKBIL1 Gene

Orthologs for NFKBIL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NFKBIL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFKBIL1 34 35
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia NFKBIL1 34 35
  • 91.6 (n)
dog
(Canis familiaris)
Mammalia NFKBIL1 34 35
  • 90.18 (n)
mouse
(Mus musculus)
Mammalia Nfkbil1 34 16 35
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Nfkbil1 34
  • 87.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIL1 35
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFKBIL1 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 43 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkbil1 34
  • 46.02 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101887110 34
  • 48.59 (n)
nfkbil1 35
  • 34 (a)
OneToOne
Species where no ortholog for NFKBIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFKBIL1 Gene

ENSEMBL:
Gene Tree for NFKBIL1 (if available)
TreeFam:
Gene Tree for NFKBIL1 (if available)

Paralogs for NFKBIL1 Gene

No data available for Paralogs for NFKBIL1 Gene

Variants for NFKBIL1 Gene

Sequence variations from dbSNP and Humsavar for NFKBIL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs111482219 -- 31,552,744(+) CTGTC(G/T)CCCAA intron-variant
rs111563849 -- 31,547,942(+) TTACA(C/T)TAAAA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs111834137 -- 31,551,306(+) GAGGC(A/G)TGAGC intron-variant
rs111936749 -- 31,555,235(+) TTTTT(C/T)TTTTT intron-variant
rs111989884 -- 31,548,681(+) TAGCT(A/G)CTTTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NFKBIL1 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
esv2759414 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv470809 CNV loss 18288195
nsv472550 CNV novel sequence insertion 20440878
nsv830627 CNV loss 17160897

Variation tolerance for NFKBIL1 Gene

Residual Variation Intolerance Score: 36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFKBIL1 Gene

Human Gene Mutation Database (HGMD)
NFKBIL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFKBIL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFKBIL1 Gene

Disorders for NFKBIL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NFKBIL1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • rheumatoid arthritis, progression of
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IKBL1_HUMAN
  • 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. {ECO:0000305 PubMed:12509789}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for NFKBIL1

Genetic Association Database (GAD)
NFKBIL1
Human Genome Epidemiology (HuGE) Navigator
NFKBIL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFKBIL1
genes like me logo Genes that share disorders with NFKBIL1: view

No data available for Genatlas for NFKBIL1 Gene

Publications for NFKBIL1 Gene

  1. Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder. (PMID: 19578685) Cordeiro Q. … Hounie A.G. (Rev Bras Psiquiatr 2009) 3 22 46 64
  2. HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis. (PMID: 19165231) Kominami S. … Kimura A. (J. Hum. Genet. 2009) 3 22 46 64
  3. Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan. (PMID: 15969671) Migita O. … Arinami T. (Clin. Exp. Allergy 2005) 3 22 46 64
  4. IKBL promoter polymorphism is strongly associated with resistance to type 1 diabetes in Japanese. (PMID: 14989711) Yamashita T. … Yoshimatsu H. (Tissue Antigens 2004) 3 22 46 64
  5. 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. (PMID: 8081366) Albertella M.R. … Campbell D.R. (Hum. Mol. Genet. 1994) 2 3 4 64

Products for NFKBIL1 Gene

Sources for NFKBIL1 Gene

Content
Loading form....