TBL1X
| Transducin (beta)-like 1X-linked | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | TBL1X ; EBI; TBL1 | ||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 4128 | ||||||||
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| RNA expression pattern | |||||||||
| File:PBB GE TBL1X 213400 s at tn.png | |||||||||
| File:PBB GE TBL1X 201867 s at tn.png | |||||||||
| File:PBB GE TBL1X 201868 s at tn.png | |||||||||
| More reference expression data | |||||||||
| Orthologs | |||||||||
| Template:GNF Ortholog box | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | n/a | n/a | |||||||
| Ensembl | n/a | n/a | |||||||
| UniProt | n/a | n/a | |||||||
| RefSeq (mRNA) | n/a | n/a | |||||||
| RefSeq (protein) | n/a | n/a | |||||||
| Location (UCSC) | n/a | n/a | |||||||
| PubMed search | n/a | n/a | |||||||
Transducin (beta)-like 1X-linked, also known as TBL1X, is a human gene.[1]
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. This gene is highly similar to the Y chromosome TBL1Y gene.[1]
References
Further reading
- Bassi MT, Ramesar RS, Caciotti B; et al. (1999). "X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats". Am. J. Hum. Genet. 64 (6): 1604–16. PMID 10330347.
- Guenther MG, Lane WS, Fischle W; et al. (2000). "A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness". Genes Dev. 14 (9): 1048–57. PMID 10809664.
- Li J, Wang J, Wang J; et al. (2000). "Both corepressor proteins SMRT and N-CoR exist in large protein complexes containing HDAC3". EMBO J. 19 (16): 4342–50. doi:10.1093/emboj/19.16.4342. PMID 10944117.
- Matsuzawa SI, Reed JC (2001). "Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses". Mol. Cell. 7 (5): 915–26. PMID 11389839.
- Zhang J, Kalkum M, Chait BT, Roeder RG (2002). "The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2". Mol. Cell. 9 (3): 611–23. PMID 11931768.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Yoon HG, Chan DW, Huang ZQ; et al. (2003). "Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1". EMBO J. 22 (6): 1336–46. doi:10.1093/emboj/cdg120. PMID 12628926.
- Yoon HG, Chan DW, Reynolds AB; et al. (2003). "N-CoR mediates DNA methylation-dependent repression through a methyl CpG binding protein Kaiso". Mol. Cell. 12 (3): 723–34. PMID 14527417.
- Perissi V, Aggarwal A, Glass CK; et al. (2004). "A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors". Cell. 116 (4): 511–26. PMID 14980219.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Yoon HG, Choi Y, Cole PA, Wong J (2005). "Reading and function of a histone code involved in targeting corepressor complexes for repression". Mol. Cell. Biol. 25 (1): 324–35. doi:10.1128/MCB.25.1.324-335.2005. PMID 15601853.
- Gerlitz G, Darhin E, Giorgio G; et al. (2007). "Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization". Cell Cycle. 4 (11): 1632–40. PMID 16258276.
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