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TONSL tonsoku like, DNA repair protein [ Homo sapiens (human) ]

Gene ID: 4796, updated on 23-Nov-2021

Summary

Official Symbol
TONSLprovided by HGNC
Official Full Name
tonsoku like, DNA repair proteinprovided by HGNC
Primary source
HGNC:HGNC:7801
See related
Ensembl:ENSG00000160949 MIM:604546
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
IKBR; SEMDSP; NFKBIL2
Summary
The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
Expression
Broad expression in bone marrow (RPKM 3.5), small intestine (RPKM 2.3) and 24 other tissues See more
Orthologs
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Genomic context

See TONSL in Genome Data Viewer
Location:
8q24.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144428775..144444488, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145654158..145669823, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 4 Neighboring gene VPS28 subunit of ESCRT-I Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893 Neighboring gene cysteine and histidine rich 1 Neighboring gene microRNA 10400 Neighboring gene kinesin family member C2 Neighboring gene forkhead box H1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nuclear replication fork IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
tonsoku-like protein
Names
I-kappa-B-related protein
NF-kappa-B inhibitor-like protein 2
ikappaBR
inhibitor of kappa B-related protein
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2

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.

mRNA and Protein(s)

  1. NM_013432.5NP_038460.4  tonsoku-like protein

    See identical proteins and their annotated locations for NP_038460.4

    Status: REVIEWED

    Source sequence(s)
    AC084125, AC233992, BC008782, BF475381, CN366457
    Consensus CDS
    CCDS34968.2
    UniProtKB/Swiss-Prot
    Q96HA7
    Related
    ENSP00000386239.3, ENST00000409379.8
    Conserved Domains (10) summary
    COG0457
    Location:187418
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00116
    Location:10451306
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00204
    Location:523635
    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 ...
    sd00033
    Location:10721099
    LRR_RI; leucine-rich repeat [structural motif]
    sd00006
    Location:163190
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:533627
    Ank_2; Ankyrin repeats (3 copies)
    pfam13424
    Location:2399
    TPR_12; Tetratricopeptide repeat
    pfam13855
    Location:10721141
    LRR_8; Leucine rich repeat
    pfam15671
    Location:707919
    PRR18; Proline-rich protein family 18
    sd00045
    Location:528559
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144428775..144444488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517048.2XP_011515350.1  tonsoku-like protein isoform X1

    Conserved Domains (9) summary
    cd00116
    Location:721982
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00204
    Location:199311
    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 ...
    sd00033
    Location:748775
    LRR_RI; leucine-rich repeat [structural motif]
    sd00006
    Location:2757
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:209303
    Ank_2; Ankyrin repeats (3 copies)
    pfam13414
    Location:27100
    TPR_11; TPR repeat
    pfam13855
    Location:748817
    LRR_8; Leucine rich repeat
    pfam15671
    Location:383595
    PRR18; Proline-rich protein family 18
    sd00045
    Location:204235
    ANK; ANK repeat [structural motif]
  2. XM_011517049.2XP_011515351.1  tonsoku-like protein isoform X2

    Conserved Domains (8) summary
    cd00116
    Location:709970
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00204
    Location:187299
    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 ...
    sd00033
    Location:736763
    LRR_RI; leucine-rich repeat [structural motif]
    sd00006
    Location:1545
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:197291
    Ank_2; Ankyrin repeats (3 copies)
    pfam13414
    Location:1588
    TPR_11; TPR repeat
    pfam15671
    Location:371583
    PRR18; Proline-rich protein family 18
    sd00045
    Location:192223
    ANK; ANK repeat [structural motif]
  3. XM_011517050.2XP_011515352.1  tonsoku-like protein isoform X3

    Conserved Domains (7) summary
    COG0457
    Location:187418
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd00204
    Location:523635
    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 ...
    sd00006
    Location:163190
    TPR; TPR repeat [structural motif]
    pfam12796
    Location:533627
    Ank_2; Ankyrin repeats (3 copies)
    pfam13424
    Location:2399
    TPR_12; Tetratricopeptide repeat
    pfam15671
    Location:707919
    PRR18; Proline-rich protein family 18
    sd00045
    Location:528559
    ANK; ANK repeat [structural motif]

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p13 PATCHES

    Range
    159377..164883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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