TBL1X

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

PDBOrtholog search: PDBe RCSB
AliasesTBL1X, EBI, SMAP55, TBL1, transducin (beta)-like 1X-linked, transducin beta like 1X-linked, transducin beta like 1 X-linked, CHNG8
Quick facts Available structures, PDB ...
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; OMA:TBL1X - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 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:

References

Further reading

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