Misplaced Pages

TONSL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5JA4
Identifiers
Aliases	TONSL, IKBR, NFKBIL2, tonsoku-like, DNA repair protein, tonsoku like, DNA repair protein, SEMDSP
External IDs	OMIM: 604546; MGI: 1919999; HomoloGene: 22754; GeneCards: TONSL; OMA:TONSL - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.3 Start 144,428,775 bp End 144,444,440 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 D3 Start 76,510,202 bp End 76,524,158 bp
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 15: 76.51 – 76.52 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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. ^ GRCh38: Ensembl release 89: ENSG00000160949 – Ensembl, May 2017
2. ^ 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.

This article on a gene on human chromosome 8 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 8
• Genes
• Human proteins
• Human chromosome 8 gene stubs