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] See more...

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 4
  • Inhibitor Of Kappa B-Like Protein 3 4
  • I-Kappa-B-Like Protein 3 4
  • IkappaBL 3 4
  • IKBL 3 4
  • NFKBIL 3

External Ids for NFKBIL1 Gene

Previous HGNC Symbols for NFKBIL1 Gene

  • NFKBIL

Previous GeneCards Identifiers for NFKBIL1 Gene

  • GC06P031578
  • GC06P031285
  • GC06P031619
  • GC06P031623
  • GC06P031514
  • GC06P031550
  • GC06P032308
  • GC06P032496
  • GC06P032601
  • GC06P031561
  • GC06P032145
  • GC06P032150

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 Malaria.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NFKBIL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFKBIL1 Gene

Genomics for NFKBIL1 Gene

GeneHancer (GH) Regulatory Elements for NFKBIL1 Gene

Promoters and enhancers for NFKBIL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFKBIL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFKBIL1

Top Transcription factor binding sites by QIAGEN in the NFKBIL1 gene promoter:
  • ATF-2
  • c-Jun
  • HOXA5

Genomic Locations for NFKBIL1 Gene

Genomic Locations for NFKBIL1 Gene
chr6:31,546,851-31,558,829
(GRCh38/hg38)
Size:
11,979 bases
Orientation:
Plus strand
chr6:31,514,628-31,526,606
(GRCh37/hg19)
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; Note=Truncated C-terminus.; 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

Gene Families for NFKBIL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFKBIL1 Gene

Suggested Antigen Peptide Sequences for NFKBIL1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (IKBL1_HUMAN)
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, isoform CRA_b (Q5HYU4_HUMAN)
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1, isoform CRA_d (Q5ST97_HUMAN)
genes like me logo Genes that share domains with NFKBIL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NFKBIL1 Gene

Function for NFKBIL1 Gene

Molecular function for NFKBIL1 Gene

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.
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

Phenotypes From GWAS Catalog for NFKBIL1 Gene

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

Human Phenotype Ontology for NFKBIL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NFKBIL1 Gene

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

Pathways & Interactions for NFKBIL1 Gene

PathCards logo

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 IBA,IEA 21873635
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,IBA 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

mRNA/cDNA for NFKBIL1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for NFKBIL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NFKBIL1 Gene



Protein tissue co-expression partners for NFKBIL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFKBIL1 31 30
  • 91.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFKBIL1 31 30
  • 90.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkbil1 17 31 30
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Nfkbil1 30
  • 87.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIL1 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFKBIL1 31
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 43 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkbil1 30
  • 46.02 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101887110 30
  • 48.59 (n)
nfkbil1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NFKBIL1: view image

Paralogs for NFKBIL1 Gene

No data available for Paralogs for NFKBIL1 Gene

Variants for NFKBIL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFKBIL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs3130062 - p.Cys224Arg

Additional dbSNP identifiers (rs#s) for NFKBIL1 Gene

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)

Additional Variant Information 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: ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • ra
malaria
  • malaria, susceptibility to
- 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.

Additional Disease Information for NFKBIL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of human genetics 2009) 3 23 41 54
  2. Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder. (PMID: 19578685) Cordeiro Q … Hounie AG (Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2009) 3 23 41 54
  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 (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2005) 3 23 41 54
  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 23 41 54
  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 MR … Campbell RD (Human molecular genetics 1994) 2 3 4 54

Products for NFKBIL1 Gene

Sources for NFKBIL1 Gene