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Aliases for TBL1XR1 Gene

Aliases for TBL1XR1 Gene

  • Transducin Beta Like 1 X-Linked Receptor 1 2 3 5
  • Nuclear Receptor Corepressor/HDAC3 Complex Subunit TBLR1 3 4
  • TBL1-Related Protein 1 3 4
  • TBLR1 3 4
  • IRA1 3 4
  • Nuclear Receptor Co-Repressor/HDAC3 Complex Subunit 3
  • F-Box-Like/WD Repeat-Containing Protein TBL1XR1 3
  • Transducin (Beta)-Like 1X-Linked Receptor 1 2
  • Transducin Beta-Like 1X-Related Protein 1 4
  • MRD41 3
  • DC42 3
  • C21 3

External Ids for TBL1XR1 Gene

Previous GeneCards Identifiers for TBL1XR1 Gene

  • GC03M178221
  • GC03M176737
  • GC03M174119

Summaries for TBL1XR1 Gene

Entrez Gene Summary for TBL1XR1 Gene

  • 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]

GeneCards Summary for TBL1XR1 Gene

TBL1XR1 (Transducin Beta Like 1 X-Linked Receptor 1) is a Protein Coding gene. Diseases associated with TBL1XR1 include Pierpont Syndrome and Mental Retardation, Autosomal Dominant 41. Among its related pathways are Gene Expression and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and histone binding. An important paralog of this gene is TBL1X.

UniProtKB/Swiss-Prot for TBL1XR1 Gene

  • 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.

Gene Wiki entry for TBL1XR1 Gene

Additional gene information for TBL1XR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBL1XR1 Gene

Genomics for TBL1XR1 Gene

GeneHancer (GH) Regulatory Elements for TBL1XR1 Gene

Promoters and enhancers for TBL1XR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J177193 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.3 +29.7 29694 9.6 PKNOX1 MLX ARNT SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF766 ZNF143 TBL1XR1 RNU6-681P GC03M177127
GH03J177229 Enhancer 0.6 ENCODE 650.7 -2.0 -1956 0.1 SOX5 SOX13 GATAD2A FOXA3 HLF CEBPG HMG20A CEBPA FOXP1 TBL1XR1 ENSG00000200288 LINC00501
GH03J177355 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -131.7 -131732 7.6 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 TBL1XR1 LINC00578 ENSG00000226782
GH03J177341 Enhancer 1.5 Ensembl ENCODE dbSUPER 12.6 -116.6 -116591 5.2 FOXA2 PKNOX1 SMAD1 ARNT SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF766 TBL1XR1 LINC00578 ENSG00000226782 ASS1P7
GH03J177336 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.6 -110.9 -110919 3.9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B YBX1 DMAP1 YY1 SP5 TBL1XR1 LINC00578 ENSG00000226782 ASS1P7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBL1XR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBL1XR1 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • C/EBPbeta
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for TBL1XR1 Gene

Genomic Locations for TBL1XR1 Gene
chr3:177,019,340-177,228,000
(GRCh38/hg38)
Size:
208,661 bases
Orientation:
Minus strand
chr3:176,737,143-176,915,261
(GRCh37/hg19)
Size:
178,119 bases
Orientation:
Minus strand

Genomic View for TBL1XR1 Gene

Genes around TBL1XR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBL1XR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBL1XR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL1XR1 Gene

Proteins for TBL1XR1 Gene

  • Protein details for TBL1XR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZK7-TBL1R_HUMAN
    Recommended name:
    F-box-like/WD repeat-containing protein TBL1XR1
    Protein Accession:
    Q9BZK7
    Secondary Accessions:
    • D3DNQ9
    • Q14DC3
    • Q9H2I1
    • Q9H9A1

    Protein attributes for TBL1XR1 Gene

    Size:
    514 amino acids
    Molecular mass:
    55595 Da
    Quaternary structure:
    • Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1XR1, CORO2A and GPS2 (PubMed:11931768). Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4 (PubMed:12628926). Interacts with MECP2; bridges interaction between MECP2 and NCOR1 (By similarity).
    SequenceCaution:
    • Sequence=AAH60320.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBL1XR1 Gene

neXtProt entry for TBL1XR1 Gene

Post-translational modifications for TBL1XR1 Gene

  • Ubiquitination at posLast=379379
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBL1XR1 Gene

Domains & Families for TBL1XR1 Gene

Gene Families for TBL1XR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9BZK7

UniProtKB/Swiss-Prot:

TBL1R_HUMAN :
  • 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.
  • Belongs to the WD repeat EBI family.
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.
Family:
  • Belongs to the WD repeat EBI family.
genes like me logo Genes that share domains with TBL1XR1: view

Function for TBL1XR1 Gene

Molecular function for TBL1XR1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TBL1XR1 Gene

Gene Ontology (GO) - Molecular Function for TBL1XR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003714 transcription corepressor activity IGI 15601853
GO:0005515 protein binding IEA,IPI 12628926
GO:0008013 beta-catenin binding IPI 18193033
GO:0042393 histone binding IDA 15601853
genes like me logo Genes that share ontologies with TBL1XR1: view
genes like me logo Genes that share phenotypes with TBL1XR1: view

Human Phenotype Ontology for TBL1XR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TBL1XR1 Gene

miRTarBase miRNAs that target TBL1XR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBL1XR1 Gene

Localization for TBL1XR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBL1XR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBL1XR1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBL1XR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 colocalizes_with histone deacetylase complex IDA 18326024
GO:0005634 nucleus IDA,IEA 18193033
GO:0005654 nucleoplasm TAS --
GO:0005876 spindle microtubule IDA 18326024
GO:0017053 transcriptional repressor complex IDA 12628926
genes like me logo Genes that share ontologies with TBL1XR1: view

Pathways & Interactions for TBL1XR1 Gene

genes like me logo Genes that share pathways with TBL1XR1: view

Pathways by source for TBL1XR1 Gene

SIGNOR curated interactions for TBL1XR1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for TBL1XR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 12628926
GO:0002021 response to dietary excess IEA --
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TBL1XR1: view

Drugs & Compounds for TBL1XR1 Gene

No Compound Related Data Available

Transcripts for TBL1XR1 Gene

mRNA/cDNA for TBL1XR1 Gene

Unigene Clusters for TBL1XR1 Gene

Transducin (beta)-like 1 X-linked receptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBL1XR1 Gene

No ASD Table

Relevant External Links for TBL1XR1 Gene

GeneLoc Exon Structure for
TBL1XR1
ECgene alternative splicing isoforms for
TBL1XR1

Expression for TBL1XR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBL1XR1 Gene

Protein differential expression in normal tissues from HIPED for TBL1XR1 Gene

This gene is overexpressed in Bone marrow stromal cell (11.4) and Lymph node (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBL1XR1 Gene



Protein tissue co-expression partners for TBL1XR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBL1XR1 Gene:

TBL1XR1

SOURCE GeneReport for Unigene cluster for TBL1XR1 Gene:

Hs.715026

mRNA Expression by UniProt/SwissProt for TBL1XR1 Gene:

Q9BZK7-TBL1R_HUMAN
Tissue specificity: Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.

Evidence on tissue expression from TISSUES for TBL1XR1 Gene

  • Nervous system(4.5)
  • Adrenal gland(4.4)
  • Liver(4.4)
  • Lung(3.7)
  • Pancreas(2.5)
  • Skin(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBL1XR1 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with TBL1XR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TBL1XR1 Gene

Orthologs for TBL1XR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBL1XR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBL1XR1 34 33
  • 99.94 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TBL1XR1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBL1XR1 34 33
  • 95.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBL1XR1 34 33
  • 94.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbl1xr1 33
  • 91.44 (n)
mouse
(Mus musculus)
Mammalia Tbl1xr1 16 34 33
  • 91.25 (n)
chicken
(Gallus gallus)
Aves TBL1XR1 34 33
  • 87.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBL1XR1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl1xr1 33
  • 84.05 (n)
Str.1697 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398608 33
zebrafish
(Danio rerio)
Actinopterygii tbl1xr1a 34
  • 96 (a)
OneToOne
zgc63617 33
fruit fly
(Drosophila melanogaster)
Insecta ebi 34
  • 54 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIF2 36 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HOS15 33
  • 59.73 (n)
rice
(Oryza sativa)
Liliopsida Os07g0405100 33
  • 58.74 (n)
Os.19522 33
barley
(Hordeum vulgare)
Liliopsida Hv.10707 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2678 34
  • 69 (a)
OneToMany
Species where no ortholog for TBL1XR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBL1XR1 Gene

ENSEMBL:
Gene Tree for TBL1XR1 (if available)
TreeFam:
Gene Tree for TBL1XR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBL1XR1: view image

Paralogs for TBL1XR1 Gene

Paralogs for TBL1XR1 Gene

(4) SIMAP similar genes for TBL1XR1 Gene using alignment to 13 proteins:

  • TBL1R_HUMAN
  • C9IYU9_HUMAN
  • C9J3H2_HUMAN
  • C9J7E1_HUMAN
  • C9J903_HUMAN
  • C9JBN1_HUMAN
  • C9JCK0_HUMAN
  • C9JCW4_HUMAN
  • C9JEC9_HUMAN
  • C9JLJ1_HUMAN
  • C9JTW8_HUMAN
  • C9JY82_HUMAN
  • Q9H2I4_HUMAN
genes like me logo Genes that share paralogs with TBL1XR1: view

Variants for TBL1XR1 Gene

Sequence variations from dbSNP and Humsavar for TBL1XR1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1009061727 likely-benign, Pierpont syndrome 177,050,471(-) A/G intron_variant
rs372813783 uncertain-significance, Pierpont syndrome 177,051,585(-) C/A coding_sequence_variant, missense_variant
rs61750378 benign, Pierpont syndrome 177,050,030(-) T/C/G coding_sequence_variant, synonymous_variant
rs61750379 benign, Pierpont syndrome 177,051,640(-) T/C coding_sequence_variant, synonymous_variant
rs750132632 uncertain-significance, Pierpont syndrome 177,047,538(-) T/A/C/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TBL1XR1 Gene

Variant ID Type Subtype PubMed ID
dgv4996n100 CNV gain 25217958
esv2726237 CNV deletion 23290073
esv29448 CNV loss 19812545
esv3308303 CNV mobile element insertion 20981092
esv3431241 CNV insertion 20981092
esv3598783 CNV gain 21293372
esv3598784 CNV gain 21293372
esv3598785 CNV loss 21293372
esv3598786 CNV loss 21293372
nsv1002405 CNV gain 25217958
nsv1004074 CNV gain 25217958
nsv1073263 CNV deletion 25765185
nsv1078811 CNV insertion 25765185
nsv1123708 CNV deletion 24896259
nsv1133565 CNV deletion 24896259
nsv1139178 CNV deletion 24896259
nsv478901 CNV novel sequence insertion 20440878
nsv518453 CNV gain 19592680
nsv7356 OTHER inversion 18451855
nsv829803 CNV gain 17160897
nsv950017 CNV deletion 24416366
nsv954510 CNV duplication 24416366

Variation tolerance for TBL1XR1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBL1XR1 Gene

Human Gene Mutation Database (HGMD)
TBL1XR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBL1XR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBL1XR1 Gene

Disorders for TBL1XR1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TBL1XR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBL1R_HUMAN
  • Pierpont syndrome (PRPTS) [MIM:602342]: An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. {ECO:0000269 PubMed:26769062}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients. {ECO:0000269 PubMed:22495309, ECO:0000269 PubMed:23160955, ECO:0000269 PubMed:25102098, ECO:0000269 PubMed:27133561}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TBL1XR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBL1XR1: view

No data available for Genatlas for TBL1XR1 Gene

Publications for TBL1XR1 Gene

  1. A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. (PMID: 14980219) Perissi V … Rosenfeld MG (Cell 2004) 3 4 22 58
  2. Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1. (PMID: 12628926) Yoon HG … Wong J (The EMBO journal 2003) 3 4 22 58
  3. The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. (PMID: 11931768) Zhang J … Roeder RG (Molecular cell 2002) 2 3 4 58
  4. Identification of four human cDNAs that are differentially expressed by early hematopoietic progenitors. (PMID: 11063877) Zhang X … Basch RS (Experimental hematology 2000) 2 3 4 58
  5. A specific mutation in TBL1XR1 causes Pierpont syndrome. (PMID: 26769062) Heinen CA … Hennekam RC (Journal of medical genetics 2016) 3 4 58

Products for TBL1XR1 Gene

Sources for TBL1XR1 Gene

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