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

Gene ID: 4795, updated on 5-Nov-2017
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; Vega:OTTHUMG00000031038
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; LST1; 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
Location:
6p21.33
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (31546851..31558829)
105 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 DExD-box helicase 39B Neighboring gene DDX39B antisense RNA 1 Neighboring gene ATPase H+ transporting V1 subunit G2 Neighboring gene uncharacterized LOC100287329 Neighboring gene lymphotoxin alpha Neighboring gene tumor necrosis factor

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    5001..16979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144961.1NP_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/Swiss-Prot
    Q9UBC1
    UniProtKB/TrEMBL
    A0A0A0MRT5, A8K778
    Related
    ENSP00000365315.4, OTTHUMP00000029045, ENST00000376145.8, OTTHUMT00000076037
    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_001144962.1NP_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/Swiss-Prot
    Q9UBC1
    UniProtKB/TrEMBL
    Q5STV6
    Related
    ENSP00000365316.4, OTTHUMP00000165888, ENST00000376146.8, OTTHUMT00000259081
    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_001144963.1NP_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/Swiss-Prot
    Q9UBC1
    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_005007.3NP_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
    Q9UBC1
    UniProtKB/TrEMBL
    A8K778
    Related
    ENSP00000365318.4, OTTHUMP00000029044, ENST00000376148.8, OTTHUMT00000076036
    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: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

Reference GRCh38.p7 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p7 ALT_REF_LOCI_2

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

Reference GRCh38.p7 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p7 ALT_REF_LOCI_3

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

Reference GRCh38.p7 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p7 ALT_REF_LOCI_4

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

Reference GRCh38.p7 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p7 ALT_REF_LOCI_5

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

Reference GRCh38.p7 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p7 ALT_REF_LOCI_6

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

Reference GRCh38.p7 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p7 ALT_REF_LOCI_7

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

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    31516762..31528738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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