NFKBIL1 NFKB inhibitor like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFKBIL1provided by HGNC
Official Full Name: NFKB inhibitor like 1provided by HGNC
Primary source: HGNC:HGNC:7800
See related: Ensembl:ENSG00000204498 MIM:601022; AllianceGenome:HGNC:7800
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IKBL; NFKBIL
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 isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in ovary (RPKM 7.9), fat (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31546851..31558829)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31399939..31411908)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31514628..31526606)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study found significant associations for two single nucleotide polymorphisms in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only.
Title: Associations between autistic-like traits and polymorphisms in NFKBIL1.
genetic association studies in a population of black women in South Africa: Data suggest that an SNP in NFKBIL1 (rs2071592) is associated with iron status/iron-deficiency anemia in the population studied.
Title: Common Variants and Haplotypes in the TF, TNF-α, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population.
These observations suggest a functional involvement of IkappaBL in the regulation of alternative splicing in both human and viral genes, which is a novel link of HLA locus to the regulation of immunity and infection in humans.
Title: A novel link of HLA locus to the regulation of immunity and infection: NFKBIL1 regulates alternative splicing of human immune-related genes and influenza virus M gene.
an association was noted between IKBL-62T and idiopathic inflammatory myopathy, with increased risk noted in anti-Jo-1- and -PM-Scl antibody-positive patients; the IKBL-62T association is dependent on TNF-308A and HLA-B*08, due to strong shared linkage disequilibrium between these alleles
Title: Genetic association study of NF-κB genes in UK Caucasian adult and juvenile onset idiopathic inflammatory myopathy.
results do not provide evidence for the association between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder in this Brazilian sample.
Title: Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Results of the present study do not provide evidence for the association between the NFKBIL1 exon 4 polymorphism and MS predisposition in the investigated Polish population.
Title: [Association study between exon 4 NFKBIL1 polymorphism and multiple sclerosis].
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The DPB1 gene controlled the severity of the vascular lesion, whereas the IKBL gene (NFKBIL1) was associated with a relatively mild phenotype.
Title: HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis.
IkappaBL allele polymorphisms influences risk of acquiring systemic lupus erythematosus and Sjogren's syndrome.
Title: The IkappaBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sjögren's syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Rheumatoid arthritis MedGen: C0003873 OMIM: 180300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X77909 (e-PCR)
- UniSTS:69746

RH46868 (e-PCR)
- UniSTS:26487

NoName (e-PCR)
- UniSTS:488086

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription regulator inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of lipopolysaccharide-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of toll-like receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NF-kappa-B inhibitor-like protein 1

Names: I-kappa-B-like protein; ikappaBL; inhibitor of kappa B-like protein; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012344.1 RefSeqGene

Range

5758..16979

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144961.2 → NP_001138433.1 NF-kappa-B inhibitor-like protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF097422, AK291893, BC143671, X77909

Consensus CDS

CCDS47399.1

UniProtKB/TrEMBL

A0A0A0MRT5, A0A1U9X847

Related

ENSP00000365315.4, ENST00000376145.8

Conserved Domains (3) summary

cd00204
Location:68 → 138

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:64 → 95

ANK; ANK repeat [structural motif]

pfam09756
Location:189 → 254

DDRGK; DDRGK domain
NM_001144962.2 → NP_001138434.1 NF-kappa-B inhibitor-like protein 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AF097422, DC370256, X77909

Consensus CDS

CCDS47400.1

UniProtKB/TrEMBL

Q5ST97, Q5STV6

Related

ENSP00000365316.4, ENST00000376146.8

Conserved Domains (4) summary

cd00204
Location:45 → 115

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:19 → 86

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:60 → 118

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:41 → 72

ANK; ANK repeat [structural motif]
NM_001144963.2 → NP_001138435.1 NF-kappa-B inhibitor-like protein 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AF097422, BC143671, DC370256, X77909

UniProtKB/TrEMBL

A0A1U9X847

Conserved Domains (4) summary

cd00204
Location:45 → 115

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:19 → 86

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:60 → 118

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:41 → 72

ANK; ANK repeat [structural motif]
NM_005007.4 → NP_004998.3 NF-kappa-B inhibitor-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_004998.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AF097422, AK291893, X77909

Consensus CDS

CCDS4700.1

UniProtKB/Swiss-Prot

A6NL91, B4DUW1, Q14625, Q5HYU4, Q5RJ72, Q5ST96, Q5STV4, Q5STV5, Q9UBC1, Q9UBX4

UniProtKB/TrEMBL

Q5ST97

Related

ENSP00000365318.4, ENST00000376148.9

Conserved Domains (4) summary

cd00204
Location:68 → 138

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:42 → 109

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:83 → 141

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:64 → 95

ANK; ANK repeat [structural motif]