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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 and Amelogenesis Imperfecta, Type 1E.

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 CIViC summary , 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
GH06G031567 2.1 FANTOM5 Ensembl ENCODE dbSUPER 29.6 +31.6 31568 22.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 DDX39B TNF LY6G5B LSM2 DHX16 ATF6B TCF19 PPP1R10 VARS CSNK2B
GH06G031619 1.4 ENCODE dbSUPER 33.4 +74.4 74377 4.0 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 LSM2 ATF6B LY6G5B DDX39B PPT2 NFKBIL1 RPL3P2 EGFL8 SKIV2L BAG6
GH06G031137 1.3 Ensembl ENCODE 33.3 -409.2 -409150 0.6 HDGF PKNOX1 ATF1 ARNT ZNF493 ARID4B DMAP1 ZNF2 ZNF48 ZNF121 HCG18 LSM2 LY6G5B NFKBIL1 GTF2H4 PSORS1C2 DDX39B ATF6B PSORS1C1 RPL3P2
GH06G030746 2.1 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -795.4 -795424 9.5 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 IER3 DHX16 LY6G5B GTF2H4 DDX39B PPP1R10 PAIP1P1 ABCF1 HLA-K VARS2
GH06G030777 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -764.5 -764486 10.1 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF263 SP3 NFYC IER3 PPP1R10 PAIP1P1 VARS2 LY6G5B GTF2H4 DHX16 NFKBIL1 DDR1 ETF1P1
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000195556 449 1401 MLX CREB3L1 YBX1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC

Transcription factor binding sites by QIAGEN in the NFKBIL1 gene promoter:

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

genes like me logo Genes that share domains with NFKBIL1: view

No data available for Gene Families and UniProtKB/Swiss-Prot 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

CRISPR Products

miRNA for NFKBIL1 Gene

miRTarBase miRNAs that target NFKBIL1

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFKBIL1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for NFKBIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20829348
GO:0005829 cytosol IEA --
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

Drugs & Compounds for NFKBIL1 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for NFKBIL1 Gene

  • Nervous system(4.4)
  • Blood(4.3)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35 34
  • 99.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFKBIL1 35 34
  • 91.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFKBIL1 35 34
  • 90.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkbil1 35 16 34
  • 88.51 (n)
OneToOne
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
rs1000800943 -- 31,551,068(+) GTCTC(C/T)CAGCC intron-variant
rs1000828182 -- 31,555,518(+) CAGGC(C/G/T)ATGAG intron-variant
rs1001035439 -- 31,559,051(+) CCTAC(A/G)CTGGG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1001549193 -- 31,558,842(+) TGTCT(C/T)CTCTG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1001801229 -- 31,545,076(+) GCCAG(C/T)AAGTG upstream-variant-2KB, utr-variant-3-prime

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

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

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • rheumatoid arthritis, progression of
amelogenesis imperfecta, type 1e
  • amelogenesis imperfecta type 1e
- 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. 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
  2. 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
  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

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