TONSL

Protein-coding gene in the species Homo sapiens
TONSL
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

5JA4

Identifiers
AliasesTONSL, IKBR, NFKBIL2, tonsoku-like, DNA repair protein, tonsoku like, DNA repair protein, SEMDSP
External IDsOMIM: 604546; MGI: 1919999; HomoloGene: 22754; GeneCards: TONSL; OMA:TONSL - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for TONSL
Genomic location for TONSL
Band8q24.3Start144,428,775 bp[1]
End144,444,440 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for TONSL
Genomic location for TONSL
Band15|15 D3Start76,510,202 bp[2]
End76,524,158 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • gonad

  • ventricular zone

  • ganglionic eminence

  • granulocyte

  • stromal cell of endometrium

  • right adrenal gland

  • apex of heart

  • right adrenal cortex

  • body of stomach
Top expressed in
  • internal carotid artery

  • external carotid artery

  • spermatocyte

  • hand

  • yolk sac

  • spermatid

  • gray matter layer of cerebellum

  • epiblast

  • primary oocyte

  • submandibular gland
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • histone binding
  • protein binding
  • transcription corepressor activity
Cellular component
  • cytoplasm
  • DNA replication factor A complex
  • nuclear replication fork
  • MCM complex
  • nucleus
  • FACT complex
  • nucleoplasm
  • nuclear body
Biological process
  • cytoplasmic sequestering of transcription factor
  • double-strand break repair via homologous recombination
  • replication fork processing
  • DNA repair
  • cellular response to DNA damage stimulus
  • negative regulation of nucleic acid-templated transcription
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4796

72749

Ensembl

ENSG00000160949

ENSMUSG00000059323

UniProt

Q96HA7

Q6NZL6

RefSeq (mRNA)

NM_013432

NM_183091

RefSeq (protein)

NP_038460

NP_898914

Location (UCSC)Chr 8: 144.43 – 144.44 MbChr 15: 76.51 – 76.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tonsoku-like, DNA repair protein is a protein that in humans is encoded by the TONSL gene.[5]

Function

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160949 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059323 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Tonsoku-like, DNA repair protein".

Further reading

  • Ask K, Jasencakova Z, Menard P, Feng Y, Almouzni G, Groth A (April 2012). "Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply". The EMBO Journal. 31 (8): 2013–23. doi:10.1038/emboj.2012.55. PMC 3343338. PMID 22407294.
  • Norman DA, Barton PJ (January 2000). "Isolation, sequence, and chromosomal localisation of the human IkappaBR gene (NFKBIL2)". Annals of Human Genetics. 64 (Pt 1): 15–23. doi:10.1046/j.1469-1809.2000.6410015.x. PMID 11246458. S2CID 83963944.
  • Duro E, Lundin C, Ask K, Sanchez-Pulido L, MacArtney TJ, Toth R, Ponting CP, Groth A, Helleday T, Rouse J (November 2010). "Identification of the MMS22L-TONSL complex that promotes homologous recombination". Molecular Cell. 40 (4): 632–44. doi:10.1016/j.molcel.2010.10.023. PMID 21055984.
  • O'Connell BC, Adamson B, Lydeard JR, Sowa ME, Ciccia A, Bredemeyer AL, Schlabach M, Gygi SP, Elledge SJ, Harper JW (November 2010). "A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability". Molecular Cell. 40 (4): 645–57. doi:10.1016/j.molcel.2010.10.022. PMC 3006237. PMID 21055985.
  • O'Donnell L, Panier S, Wildenhain J, Tkach JM, Al-Hakim A, Landry MC, Escribano-Diaz C, Szilard RK, Young JT, Munro M, Canny MD, Kolas NK, Zhang W, Harding SM, Ylanko J, Mendez M, Mullin M, Sun T, Habermann B, Datti A, Bristow RG, Gingras AC, Tyers MD, Brown GW, Durocher D (November 2010). "The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination". Molecular Cell. 40 (4): 619–31. doi:10.1016/j.molcel.2010.10.024. PMC 3031522. PMID 21055983.
  • Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Walley A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV (2010). "Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study". Critical Care. 14 (6): R227. doi:10.1186/cc9377. PMC 3220025. PMID 21171993.
  • Ray P, Zhang DH, Elias JA, Ray A (May 1995). "Cloning of a differentially expressed I kappa B-related protein". The Journal of Biological Chemistry. 270 (18): 10680–5. doi:10.1074/jbc.270.18.10680. PMID 7738005.
  • Piwko W, Olma MH, Held M, Bianco JN, Pedrioli PG, Hofmann K, Pasero P, Gerlich DW, Peter M (December 2010). "RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a novel regulator of DNA replication in human cells". The EMBO Journal. 29 (24): 4210–22. doi:10.1038/emboj.2010.304. PMC 3018799. PMID 21113133.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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