Human Gene TBL1XR1 (ENST00000430069.5) from GENCODE V44
Description: Homo sapiens TBL1X receptor 1 (TBL1XR1), transcript variant 7, mRNA. (from RefSeq NM_001374329) RefSeq Summary (NM_001321193): This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]. Gencode Transcript: ENST00000430069.5 Gencode Gene: ENSG00000177565.19 Transcript (Including UTRs) Position: hg38 chr3:177,019,355-177,196,478 Size: 177,124 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr3:177,025,498-177,064,977 Size: 39,480 Coding Exon Count: 14
ID:TBL1R_HUMAN DESCRIPTION: RecName: Full=F-box-like/WD repeat-containing protein TBL1XR1; AltName: Full=Nuclear receptor corepressor/HDAC3 complex subunit TBLR1; AltName: Full=TBL1-related protein 1; AltName: Full=Transducin beta-like 1X-related protein 1; FUNCTION: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation. SUBUNIT: Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1XR1, CORO2A and GPS2. Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4. SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Ubiquitous. DOMAIN: The F-box-like domain is related to the F-box domain, and apparently displays the same function as component of ubiquitin E3 ligase complexes (By similarity). PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Belongs to the WD repeat EBI family. SIMILARITY: Contains 1 F-box-like domain. SIMILARITY: Contains 1 LisH domain. SIMILARITY: Contains 8 WD repeats. SEQUENCE CAUTION: Sequence=AAH60320.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZK7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0002021 response to dietary excess GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0010468 regulation of gene expression GO:0016042 lipid catabolic process GO:0016575 histone deacetylation GO:0019216 regulation of lipid metabolic process GO:0030814 regulation of cAMP metabolic process GO:0035264 multicellular organism growth GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050872 white fat cell differentiation GO:0060612 adipose tissue development GO:0060613 fat pad development GO:0090207 regulation of triglyceride metabolic process GO:0090263 positive regulation of canonical Wnt signaling pathway
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