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 PDB Ortholog search: PDBe RCSB List of PDB id codes 2XTC, 2XTD, 2XTE
Identifiers
Aliases	TBL1X, EBI, SMAP55, TBL1, transducin (beta)-like 1X-linked, transducin beta like 1X-linked, transducin beta like 1 X-linked, CHNG8
External IDs	OMIM: 300196; MGI: 1336172; HomoloGene: 4128; GeneCards: TBL1X; OMA:TBL1X - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.31-p22.2 Start 9,463,320 bp[1] End 9,741,037 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3- B|X 38.31 cM Start 76,554,619 bp[2] End 76,706,589 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tail of epididymis seminal vesicula corpus epididymis renal medulla caput epididymis buccal mucosa cell optic nerve dorsal motor nucleus of vagus nerve inferior olivary nucleus secondary oocyte Top expressed in tail of embryo genital tubercle ascending aorta maxillary prominence mandibular prominence atrium aortic valve efferent ductule left lung lobe calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function beta-catenin binding transcription corepressor activity protein domain specific binding histone binding transcription factor binding protein C-terminus binding protein binding identical protein binding Cellular component histone deacetylase complex transcription repressor complex nucleoplasm spindle microtubule nucleus mitotic spindle Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II hearing transcription, DNA-templated proteolysis positive regulation of transcription, DNA-templated histone deacetylation positive regulation of transcription by RNA polymerase II proteasome-mediated ubiquitin-dependent protein catabolic process regulation of lipid metabolic process positive regulation of canonical Wnt signaling pathway protein stabilization regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr X: 76.55 – 76.71 Mb PubMed search [3] [4]
Wikidata
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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:

• GPS2,^[6] and
• HDAC3,^[6][7]
• NCOA1,^[6][7][8][9] and
• NCOA2.^{[7][8][9][10]}