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Aliases for TONSL Gene

Aliases for TONSL Gene

  • Tonsoku-Like, DNA Repair Protein 2 3
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor-Like 2 2 3 4
  • NFKBIL2 3 4 6
  • IKBR 3 4 6
  • Inhibitor Of Kappa B-Related Protein 3 4
  • NF-Kappa-B Inhibitor-Like Protein 2 3 4
  • I-Kappa-B-Related Protein 3 4
  • IkappaBR 3 4
  • Tonsoku-Like Protein 3

External Ids for TONSL Gene

Previous Symbols for TONSL Gene

  • NFKBIL2

Summaries for TONSL Gene

Entrez Gene Summary for TONSL Gene

  • 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]

GeneCards Summary for TONSL Gene

TONSL (Tonsoku-Like, DNA Repair Protein) is a Protein Coding gene. GO annotations related to this gene include transcription corepressor activity and histone binding. An important paralog of this gene is BCORL1.

UniProtKB/Swiss-Prot for TONSL Gene

  • Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TONSL Gene

Genomics for TONSL Gene

Genomic Location for TONSL Gene

Start:
144,428,775 bp from pter
End:
144,444,488 bp from pter
Size:
15,714 bases
Orientation:
Minus strand

Genomic View for TONSL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TONSL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TONSL Gene

No data available for Regulatory Elements for TONSL Gene

Proteins for TONSL Gene

  • Protein details for TONSL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HA7-TONSL_HUMAN
    Recommended name:
    Tonsoku-like protein
    Protein Accession:
    Q96HA7
    Secondary Accessions:
    • B5MDP0
    • C9JKB1
    • C9JNV8
    • Q13006
    • Q9UGJ2

    Protein attributes for TONSL Gene

    Size:
    1378 amino acids
    Molecular mass:
    150929 Da
    Quaternary structure:
    • Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2. Interacts with the MCM complex, the FACT complex and the RPA complex. Binds histones.
    SequenceCaution:
    • Sequence=AAA85819.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAH08782.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB63467.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TONSL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TONSL Gene

Proteomics data for TONSL Gene at MOPED

Post-translational modifications for TONSL Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys336

Other Protein References for TONSL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TONSL Gene

Domains for TONSL Gene

Gene Families for TONSL Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

UniProtKB/Swiss-Prot:

TONSL_HUMAN
Domain:
  • The ANK repeats mediate the interaction with the MCM complex and histones, while the LRR repeats mediate the interaction with MMS22L.:
    • Q96HA7
Family:
  • Belongs to the Tonsoku family.:
    • Q96HA7
Similarity:
  • Contains 3 ANK repeats.:
    • Q96HA7
  • Contains 7 LRR (leucine-rich) repeats.:
    • Q96HA7
  • Contains 8 TPR repeats.:
    • Q96HA7
genes like me logo Genes that share domains with TONSL: view

Function for TONSL Gene

Molecular function for TONSL Gene

UniProtKB/Swiss-Prot Function: Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.

Gene Ontology (GO) - Molecular Function for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 7738005
GO:0005515 protein binding IPI 21055983
GO:0042393 histone binding IDA 21055983
genes like me logo Genes that share ontologies with TONSL: view
genes like me logo Genes that share phenotypes with TONSL: view

miRNA for TONSL Gene

miRTarBase miRNAs that target TONSL

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TONSL Gene

Localization for TONSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for TONSL Gene

Cytoplasm. Nucleus. Note=Mainly nuclear. Localizes to DNA damage sites, accumulates at stressed replication forks.

Gene Ontology (GO) - Cellular Components for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 21055983
GO:0005737 cytoplasm IEA --
GO:0035101 colocalizes_with FACT complex IDA 21055983
genes like me logo Genes that share ontologies with TONSL: view

Pathways for TONSL Gene

SuperPathways for TONSL Gene

No Data Available

Gene Ontology (GO) - Biological Process for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 21055983
GO:0031297 replication fork processing IMP 21055983
GO:0042994 cytoplasmic sequestering of transcription factor TAS 7738005
GO:1903507 negative regulation of nucleic acid-templated transcription TAS 7738005
GO:2001141 regulation of RNA biosynthetic process --
genes like me logo Genes that share ontologies with TONSL: view

No data available for Pathways by source for TONSL Gene

Transcripts for TONSL Gene

Unigene Clusters for TONSL Gene

Tonsoku-like, DNA repair protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TONSL Gene

No ASD Table

Relevant External Links for TONSL Gene

GeneLoc Exon Structure for
TONSL
ECgene alternative splicing isoforms for
TONSL

Expression for TONSL Gene

mRNA expression in normal human tissues for TONSL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TONSL Gene

SOURCE GeneReport for Unigene cluster for TONSL Gene Hs.675285

mRNA Expression by UniProt/SwissProt for TONSL Gene

Q96HA7-TONSL_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle and tracheal epithelial cells.
genes like me logo Genes that share expressions with TONSL: view

Orthologs for TONSL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TONSL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TONSL 36
  • 98.87 (n)
  • 98.3 (a)
TONSL 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TONSL 36
  • 80.36 (n)
  • 75.33 (a)
TONSL 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TONSL 36
  • 80.4 (n)
  • 77.25 (a)
TONSL 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tonsl 36
  • 78.49 (n)
  • 77.04 (a)
Tonsl 16
Tonsl 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TONSL 37
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TONSL 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tonsl 36
  • 78.59 (n)
  • 76.73 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 33 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TONSL 37
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15010 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11504 36
tonsl 36
  • 56.39 (n)
  • 48.56 (a)
zebrafish
(Danio rerio)
Actinopterygii TONSL 37
  • 44 (a)
OneToOne
zgc:171416 36
  • 52.76 (n)
  • 47.32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006055 36
  • 45.11 (n)
  • 31.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7457 36
  • 42.16 (n)
  • 32.2 (a)
CG7457 37
  • 24 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 37
  • 13 (a)
OneToMany
Species with no ortholog for TONSL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TONSL Gene

ENSEMBL:
Gene Tree for TONSL (if available)
TreeFam:
Gene Tree for TONSL (if available)

Paralogs for TONSL Gene

Paralogs for TONSL Gene

Selected SIMAP similar genes for TONSL Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TONSL: view

Variants for TONSL Gene

Sequence variations from dbSNP and Humsavar for TONSL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs741969 -- 144,442,659(+) CCTGG(A/G)GCGGG intron-variant
rs741970 -- 144,443,481(-) CCCTT(A/G)GCATG intron-variant
rs760473 -- 144,442,817(-) GGGGG(G/T)TTATC intron-variant
rs760475 -- 144,443,349(-) CGGCT(C/T)ACAGC intron-variant
rs760476 -- 144,443,144(-) AGGAG(A/C/T)TGGAG reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for TONSL Gene

Variant ID Type Subtype PubMed ID
nsv470249 CNV Loss 18288195
nsv515809 CNV Gain+Loss 19592680
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891817 CNV Loss 21882294
dgv7959n71 CNV Loss 21882294
nsv891841 CNV Loss 21882294
nsv891845 CNV Gain 21882294
nsv891846 CNV Loss 21882294
dgv2264e1 CNV Complex 17122850
nsv831489 CNV Loss 17160897
dgv7966n71 CNV Loss 21882294
dgv7967n71 CNV Loss 21882294
dgv7968n71 CNV Loss 21882294
dgv7969n71 CNV Loss 21882294
dgv7970n71 CNV Loss 21882294
dgv7971n71 CNV Loss 21882294
dgv7972n71 CNV Loss 21882294
dgv7973n71 CNV Loss 21882294
dgv907n27 CNV Loss 19166990
nsv466020 CNV Loss 19166990
dgv7974n71 CNV Loss 21882294
nsv891887 CNV Gain 21882294
dgv7975n71 CNV Loss 21882294
nsv891890 CNV Loss 21882294
nsv891891 CNV Loss 21882294
dgv7976n71 CNV Loss 21882294
dgv7977n71 CNV Loss 21882294
dgv7978n71 CNV Loss 21882294
nsv891897 CNV Loss 21882294
esv2738066 CNV Deletion 23290073

Relevant External Links for TONSL Gene

HapMap Linkage Disequilibrium report
TONSL
Human Gene Mutation Database (HGMD)
TONSL

Disorders for TONSL Gene

(2) Novoseek inferred disease relationships for TONSL Gene

Disease -log(P) Hits PubMed IDs
necrosis 2.41 1
tumors 0 1
genes like me logo Genes that share disorders with TONSL: view

No data available for UniProtKB/Swiss-Prot for TONSL Gene

Publications for TONSL Gene

  1. Cloning of a differentially expressed I kappa B-related protein. (PMID: 7738005) Ray P. … Ray A. (J. Biol. Chem. 1995) 2 3 4
  2. Isolation, sequence, and chromosomal localisation of the human IkappaBR gene (NFKBIL2). (PMID: 11246458) Norman D.A. … Barton P.J. (Ann. Hum. Genet. 2000) 2 3 4
  3. The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination. (PMID: 21055983) O'Donnell L. … Durocher D. (Mol. Cell 2010) 3 4
  4. Identification of the MMS22L-TONSL complex that promotes homologous recombination. (PMID: 21055984) Duro E. … Rouse J. (Mol. Cell 2010) 3 4
  5. A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability. (PMID: 21055985) O'Connell B.C. … Harper J.W. (Mol. Cell 2010) 3 4

Products for TONSL Gene

Sources for TONSL Gene

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