TBL1X

Transducin (beta)-like 1X-linked, also known as TBL1X, is a protein which in humans is encoded by the TBL1X gene.[5]

TBL1X
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTBL1X, EBI, SMAP55, TBL1, transducin (beta)-like 1X-linked, transducin beta like 1X-linked, transducin beta like 1 X-linked, CHNG8
External IDsOMIM: 300196 MGI: 1336172 HomoloGene: 4128 GeneCards: TBL1X
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.31-p22.2Start9,463,295 bp[1]
End9,741,037 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6907

21372

Ensembl

ENSG00000101849

ENSMUSG00000025246

UniProt

O60907

Q9QXE7

RefSeq (mRNA)

NM_001139466
NM_001139467
NM_001139468
NM_005647

NM_020601

RefSeq (protein)

NP_001132938
NP_001132939
NP_001132940
NP_005638

NP_065626

Location (UCSC)Chr X: 9.46 – 9.74 MbChr X: 77.51 – 77.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[5]

Interactions

TBL1X has been shown to interact with:

References

  1. GRCh38: Ensembl release 89: ENSG00000101849 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025246 - 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: TBL1X transducin (beta)-like 1X-linked".
  6. Zhang J, Kalkum M, Chait BT, Roeder RG (March 2002). "The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2". Mol. Cell. 9 (3): 611–23. doi:10.1016/s1097-2765(02)00468-9. PMID 11931768.
  7. Guenther MG, Lane WS, Fischle W, Verdin E, Lazar MA, Shiekhattar R (May 2000). "A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness". Genes Dev. 14 (9): 1048–57. doi:10.1101/gad.14.9.1048 (inactive 2021-01-11). PMC 316569. PMID 10809664.CS1 maint: DOI inactive as of January 2021 (link)
  8. Yoon HG, Chan DW, Huang ZQ, Li J, Fondell JD, Qin J, Wong J (March 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. PMC 151047. PMID 12628926.
  9. Li J, Wang J, Wang J, Nawaz Z, Liu JM, Qin J, Wong J (August 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. PMC 302030. PMID 10944117.
  10. Guenther MG, Yu J, Kao GD, Yen TJ, Lazar MA (December 2002). "Assembly of the SMRT-histone deacetylase 3 repression complex requires the TCP-1 ring complex". Genes Dev. 16 (24): 3130–5. doi:10.1101/gad.1037502. PMC 187500. PMID 12502735.

Further reading


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