Version 5.4
Homo sapiens Gene: TBL1X
Summary
InnateDB Gene IDBG-42498.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBL1X
Gene Name transducin (beta)-like 1X-linked
Synonyms EBI; SMAP55; TBL1
Species Homo sapiens
Ensembl Gene ENSG00000101849
Encoded Proteins
IDBP-42500
transducin (beta)-like 1X-linked
IDBP-42502
transducin (beta)-like 1X-linked
IDBP-292618
transducin (beta)-like 1X-linked
IDBP-361663
transducin (beta)-like 1X-linked
IDBP-361664
transducin (beta)-like 1X-linked
IDBP-361667
transducin (beta)-like 1X-linked
IDBP-361669
transducin (beta)-like 1X-linked
IDBP-361670
transducin (beta)-like 1X-linked
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Nov 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:9463295-9719743
Strand Forward strand
Band p22.31
Transcripts
ENST00000380961 ENSP00000370348
ENST00000217964 ENSP00000217964
ENST00000407597 ENSP00000385988
ENST00000424279 ENSP00000394097
ENST00000441088 ENSP00000402923
ENST00000415293 ENSP00000407069
ENST00000422314 ENSP00000415508
ENST00000452824 ENSP00000397878
ENST00000497555
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
Experimentally validated
Total 50 [view]
Protein-Protein 50 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008022 protein C-terminus binding
GO:0008134 transcription factor binding
GO:0019904 protein domain specific binding
GO:0042393 histone binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006508 proteolysis
GO:0007219 Notch signaling pathway
GO:0007605 sensory perception of sound
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060070 canonical Wnt signaling pathway
Cellular Component
GO:0000118 histone deacetylase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005876 spindle microtubule
GO:0017053 transcriptional repressor complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_118780
NOTCH1 Intracellular Domain Regulates Transcription pathway
REACT_116145
PPARA activates gene expression pathway
REACT_19241
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
REACT_147904
Activation of gene expression by SREBF (SREBP) pathway
REACT_147797
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_22279
Fatty acid, triacylglycerol, and ketone body metabolism pathway
REACT_118659
RORA activates circadian gene expression pathway
REACT_111118
BMAL1:CLOCK,NPAS2 activates circadian gene expression pathway
REACT_118789
REV-ERBA represses gene expression pathway
REACT_24941
Circadian Clock pathway
REACT_160243
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_160254
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_118713
YAP1- and WWTR1 (TAZ)-stimulated gene expression pathway
REACT_12627
Generic Transcription Pathway pathway
REACT_27161
Transcriptional regulation of white adipocyte differentiation pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_200751
Organelle biogenesis and maintenance pathway
REACT_111045
Developmental Biology pathway
REACT_160082
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_160214
Signaling by NOTCH1 in Cancer pathway
REACT_200788
Mitochondrial biogenesis pathway
REACT_160099
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_111102
Signal Transduction pathway
REACT_267716
Orphan transporters pathway
REACT_160301
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_228222
HDACs deacetylate histones pathway
REACT_200608
Transcriptional activation of mitochondrial biogenesis pathway
REACT_160248
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_172623
Chromatin organization pathway
REACT_299
Signaling by NOTCH pathway
REACT_172633
Chromatin modifying enzymes pathway
REACT_118859
Signaling by NOTCH1 pathway
REACT_160133
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_111217
Metabolism pathway
REACT_71
Gene Expression pathway
REACT_116125
Disease pathway
KEGG
hsa04310
Wnt signaling pathway pathway
INOH
PID NCI
betacatenin_nuc_pathway
Regulation of nuclear beta catenin signaling and target gene transcription
Cross-References
SwissProt
TrEMBL C9JCW3
UniProt Splice Variant
Entrez Gene 6907
UniGene Hs.495656 Hs.598333
RefSeq NM_001139466 NM_001139467 NM_001139468 NM_005647
HUGO HGNC:11585
OMIM 300196
CCDS CCDS14133 CCDS48078
HPRD 02183
IMGT
EMBL AC002549 AC003036 AC073488
GenPept
RNA Seq Atlas 6907

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca