Gene Gene information from NCBI Gene database.
Entrez ID 4795
Gene name NFKB inhibitor like 1
Gene symbol NFKBIL1
Synonyms (NCBI Gene)
IKBLNFKBIL
Chromosome 6
Chromosome location 6p21.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
4
miRTarBase ID miRNA Experiments Reference
MIRT038896 hsa-miR-93-3p CLASH 23622248
MIRT2053222 hsa-miR-4286 CLIP-seq
MIRT2053223 hsa-miR-4467 CLIP-seq
MIRT2053224 hsa-miR-4519 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20829348, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 20829348
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601022 7800 ENSG00000204498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBC1
Protein name NF-kappa-B inhibitor-like protein 1 (Inhibitor of kappa B-like protein) (I-kappa-B-like protein) (IkappaBL) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13637 Ank_4 65 118 Repeat
Tissue specificity TISSUE SPECIFICITY: Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.
Sequence
MSNPSPQVPEEEASTSVCRPKSSMASTSRRQRRERRFRRYLSAGRLVRAQALLQRHPGLD
VDAGQPPPLHRACARHDAPALCLLLRLGADPAHQDRHGDTALHAAARQGPDAYTDFFLPL
LSRCPSAMGIKNKDGETPGQILGWGPPWDSAEEEEEDDASKEREWRQKLQGELEDEWQEV
MGRFEGDASHETQEPESFSAWSDRLAREHAQKCQQQQREAEGSCRPPRAEGSSQSWRQQE
EEQRLFRERARAKEEELRESRARRAQEALGDREPKPTRAGPREEHPRGAGRGSLWRFGDV
PWPCPGGGDPEAMAAALVARGPPLEEQGALRRYLRVQQVRWHPDRFLQRFRSQIETWELG
RVMGAVTALSQALNRHAEALK
Sequence length 381
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NFKBIL1-related disorder Benign; Likely benign rs149963082, rs200733771, rs2230365, rs3130062 RCV003904049
RCV003979435
RCV003977248
RCV003982120
Rheumatoid arthritis risk factor rs2071592 RCV000008996
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35328735
AIDS Associated Nephropathy Inhibit 24896147, 31936167
AIDS Associated Nephropathy Associate 24896147
Arthritis Rheumatoid Associate 12509789
Barrett Esophagus Associate 35328735
Coronary Aneurysm Associate 35740890
Coronary Restenosis Associate 35740890
COVID 19 Stimulate 35504488
Heart Diseases Associate 20662065
Hemorrhage Associate 24566624