TBL1X
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. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene.
                Full Name
                    transducin beta like 1 X-linked
                Research Area
                    Epigenetics and nuclear signaling; Cancer; Metabolism
                Function
                    F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219).
Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272).
                Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272).
Biological Process
                    Fat cell differentiation
Negative regulation of transcription by RNA polymerase II
Positive regulation of canonical Wnt signaling pathway
Positive regulation of DNA-templated transcription
Positive regulation of transcription by RNA polymerase II
Proteasome-mediated ubiquitin-dependent protein catabolic process
Protein stabilization
Proteolysis
Regulation of transcription by RNA polymerase II
Response to estrogen
Response to steroid hormone
Sensory perception of sound
                Negative regulation of transcription by RNA polymerase II
Positive regulation of canonical Wnt signaling pathway
Positive regulation of DNA-templated transcription
Positive regulation of transcription by RNA polymerase II
Proteasome-mediated ubiquitin-dependent protein catabolic process
Protein stabilization
Proteolysis
Regulation of transcription by RNA polymerase II
Response to estrogen
Response to steroid hormone
Sensory perception of sound
Cellular Location
                    Nucleus
Note: Colocalized with MECP2 to the heterochromatin foci.
                Note: Colocalized with MECP2 to the heterochromatin foci.
Involvement in disease
                    Hypothyroidism, congenital, non-goitrous, 8 (CHNG8):
A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.
                A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.
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                    Anti-TBL1X antibodies
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        Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human, Monkey
                
                Clone: CBT1186
                
                Application*: WB, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG1
                
                Specificity: Human, Monkey
                
                Clone: 4G1
                
                Application*: WB
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG2b, κ
                
                Specificity: Human
                
                Clone: 2B6
                
                Application*: IH, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human, Rat, Mouse
                
                Clone: CBYJT-2096
                
                Application*: WB, IP, IF, P, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human, Rat, Mouse
                
                Clone: CBYJT-2095
                
                Application*: WB, IP, IF, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human, Monkey
                
                Clone: CBYJT-2094
                
                Application*: WB, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG1
                
                Specificity: Human, Monkey
                
                Clone: CBYJT-2093
                
                Application*: E, WB
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human
                
                Clone: CBYJT-2091
                
                Application*: WB, IP, IF, E
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG2b
                
                Specificity: Human
                
                Clone: 4H2-D5-E9
                
                Application*: WB, IC
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG
                
                Specificity: Human
                
                Clone: CBYJT-2090
                
                Application*: IC, WB
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG2b, κ
                
                Specificity: Human
                
                Clone: CBYJT-2089
                
                Application*: E, IH
                
            Target: TBL1X
                
                Host: Mouse
                
                Antibody Isotype: IgG1
                
                Specificity: Human
                
                Clone: 2C3
                
                Application*: IP, E
                
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For Research Use Only. Not For Clinical Use.
                    (P): Predicted
* Abbreviations 
- AActivation
 - AGAgonist
 - APApoptosis
 - BBlocking
 - BABioassay
 - BIBioimaging
 - CImmunohistochemistry-Frozen Sections
 - CIChromatin Immunoprecipitation
 - CTCytotoxicity
 - CSCostimulation
 - DDepletion
 - DBDot Blot
 
- EELISA
 - ECELISA(Cap)
 - EDELISA(Det)
 - ESELISpot
 - EMElectron Microscopy
 - FFlow Cytometry
 - FNFunction Assay
 - GSGel Supershift
 - IInhibition
 - IAEnzyme Immunoassay
 - ICImmunocytochemistry
 - IDImmunodiffusion
 - IEImmunoelectrophoresis
 
- IFImmunofluorescence
 - IGImmunochromatography
 - IHImmunohistochemistry
 - IMImmunomicroscopy
 - IOImmunoassay
 - IPImmunoprecipitation
 - ISIntracellular Staining for Flow Cytometry
 - LALuminex Assay
 - LFLateral Flow Immunoassay
 - MMicroarray
 - MCMass Cytometry/CyTOF
 - MDMeDIP
 
- MSElectrophoretic Mobility Shift Assay
 - NNeutralization
 - PImmunohistologyp-Paraffin Sections
 - PAPeptide Array
 - PEPeptide ELISA
 - PLProximity Ligation Assay
 - RRadioimmunoassay
 - SStimulation
 - SESandwich ELISA
 - SHIn situ hybridization
 - TCTissue Culture
 - WBWestern Blot
 
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