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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
q26.32
Chromosome location (bp)
177019340 - 177228000
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Chromatin regulator, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q9BZK7 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008013[beta-catenin binding] GO:0016575[histone deacetylation] GO:0017053[transcription repressor complex] GO:0042393[histone binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0072686[mitotic spindle] GO:0090263[positive regulation of canonical Wnt signaling pathway]
C9JCW4 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9J3H2 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Q9BZK7 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008013[beta-catenin binding] GO:0016575[histone deacetylation] GO:0017053[transcription repressor complex] GO:0042393[histone binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0072686[mitotic spindle] GO:0090263[positive regulation of canonical Wnt signaling pathway]
C9JCK0 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9JTW8 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9JBN1 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Q9BZK7 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008013[beta-catenin binding] GO:0016575[histone deacetylation] GO:0017053[transcription repressor complex] GO:0042393[histone binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0072686[mitotic spindle] GO:0090263[positive regulation of canonical Wnt signaling pathway]
C9JLJ1 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9J903 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9IYU9 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9JEC9 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9J7E1 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Q9BZK7 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0001835[blastocyst hatching] GO:0002021[response to dietary excess] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008013[beta-catenin binding] GO:0010468[regulation of gene expression] GO:0016042[lipid catabolic process] GO:0016575[histone deacetylation] GO:0017053[transcription repressor complex] GO:0035264[multicellular organism growth] GO:0042393[histone binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0050872[white fat cell differentiation] GO:0060612[adipose tissue development] GO:0060613[fat pad development] GO:0072686[mitotic spindle] GO:0090207[regulation of triglyceride metabolic process] GO:0090263[positive regulation of canonical Wnt signaling pathway]
A0A0D9SFI2 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A0D9SF25 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A0D9SEW5 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1B0GUU2 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Q9BZK7 [Direct mapping] F-box-like/WD repeat-containing protein TBL1XR1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008013[beta-catenin binding] GO:0016575[histone deacetylation] GO:0017053[transcription repressor complex] GO:0042393[histone binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0072686[mitotic spindle] GO:0090263[positive regulation of canonical Wnt signaling pathway]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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