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

    Gene ID: 4795, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NFKBIL1 in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene ATP6V1G2-DDX39B readthrough (NMD candidate) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:31509210-31510409 Neighboring gene DDX39B antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31513919-31514418 Neighboring gene ATPase H+ transporting V1 subunit G2 Neighboring gene uncharacterized LOC100287329 Neighboring gene lymphotoxin alpha Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:31545791-31546990 Neighboring gene tumor necrosis factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    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)

    NEW Try the new Transcript table

    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

    1. NG_012344.1 RefSeqGene

      Range
      5758..16979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144961.2NP_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:68138
      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:6495
      ANK; ANK repeat [structural motif]
      pfam09756
      Location:189254
      DDRGK; DDRGK domain
    2. NM_001144962.2NP_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:45115
      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:1986
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:60118
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:4172
      ANK; ANK repeat [structural motif]
    3. NM_001144963.2NP_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:45115
      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:1986
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:60118
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:4172
      ANK; ANK repeat [structural motif]
    4. NM_005007.4NP_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:68138
      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:42109
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:83141
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:6495
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31546851..31558829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3024177..3036142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2794617..2806586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2851900..2863876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2888786..2900754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2802703..2814673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2846135..2858110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31399939..31411908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)