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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
  • Transducin Beta-Like 1X-Related Protein 1 3 4
  • TBL1-Related Protein 1 3 4
  • TBLR1 3 4
  • IRA1 3 4
  • Nuclear Receptor Co-Repressor/HDAC3 Complex Subunit 3
  • Transducin (Beta)-Like 1X-Linked Receptor 1 2
  • 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 leukemia, acute promyelocytic, somatic and hemangioma of spleen. Among its related pathways are Gene Expression and Signaling by GPCR. 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

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

Genomics for TBL1XR1 Gene

Regulatory Elements for TBL1XR1 Gene

Promoters for TBL1XR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBL1XR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBL1XR1 Gene

Chromosome:
3
Start:
177,019,355 bp from pter
End:
177,197,396 bp from pter
Size:
178,042 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. Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4.
    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

Proteomics data for TBL1XR1 Gene at MOPED

Post-translational modifications for TBL1XR1 Gene

  • Ubiquitination at Lys 379
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TBL1XR1 (TBL1XR1)

No data available for DME Specific Peptides for TBL1XR1 Gene

Domains & Families for TBL1XR1 Gene

Gene Families for TBL1XR1 Gene

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.
  • Contains 8 WD repeats.
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.
  • Contains 1 F-box-like domain.
  • Contains 1 LisH domain.
Family:
  • Belongs to the WD repeat EBI family.
Similarity:
  • Contains 8 WD repeats.
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.

Gene Ontology (GO) - Molecular Function for TBL1XR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008013 beta-catenin binding IPI 18193033
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

CRISPR Products

miRNA for TBL1XR1 Gene

miRTarBase miRNAs that target TBL1XR1

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
Jensen Localization Image for TBL1XR1 Gene COMPARTMENTS Subcellular localization image for TBL1XR1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TBL1XR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005876 spindle microtubule IDA 18326024
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 from RNA polymerase II promoter IDA 12628926
GO:0002021 response to dietary excess IEA --
GO:0010468 regulation of gene expression IEA --
GO:0016575 histone deacetylation IBA --
GO:0030814 regulation of cAMP metabolic process 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

Unigene Clusters for TBL1XR1 Gene

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

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 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, PaxDb, MOPED, and MaxQB for TBL1XR1 Gene



SOURCE GeneReport for Unigene cluster for TBL1XR1 Gene Hs.715026

mRNA Expression by UniProt/SwissProt for TBL1XR1 Gene

Q9BZK7-TBL1R_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with TBL1XR1: view

Protein tissue co-expression partners for TBL1XR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
TBL1XR1 35
  • 99.94 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia TBL1XR1 35
  • 95.65 (n)
  • 99.42 (a)
TBL1XR1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBL1XR1 36
  • 98 (a)
OneToOne
TBL1XR1 35
  • 94.36 (n)
  • 99.03 (a)
mouse
(Mus musculus)
Mammalia Tbl1xr1 16
Tbl1xr1 36
  • 99 (a)
OneToOne
Tbl1xr1 35
  • 91.25 (n)
  • 99.03 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TBL1XR1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbl1xr1 35
  • 91.44 (n)
  • 99.22 (a)
chicken
(Gallus gallus)
Aves TBL1XR1 35
  • 87.76 (n)
  • 98.3 (a)
TBL1XR1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBL1XR1 36
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398608 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1697 35
tbl1xr1 35
  • 84.05 (n)
  • 97.67 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc63617 35
tbl1xr1a 36
  • 96 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ebi 36
  • 54 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIF2 36
  • 25 (a)
OneToMany
SIF2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons HOS15 35
  • 59.73 (n)
  • 58.85 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.10707 35
rice
(Oryza sativa)
Liliopsida Os.19522 35
Os07g0405100 35
  • 58.74 (n)
  • 55.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2678 36
  • 69 (a)
OneToMany
Species with no ortholog for TBL1XR1:
  • 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)

Paralogs for TBL1XR1 Gene

Paralogs for TBL1XR1 Gene

Pseudogenes.org Pseudogenes for TBL1XR1 Gene

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 Sequence Context AA Info Type
rs1134321 -- 177,147,139(-) agtcc(A/G)ggagg intron-variant
rs1209032 -- 177,084,253(-) tgcat(A/G)tggca intron-variant
rs1209033 -- 177,103,196(-) TTAAA(A/G)TTACT intron-variant
rs1211719 -- 177,099,322(-) TGGTG(C/T)GGTCT intron-variant
rs1317129 -- 177,140,768(+) TAACA(A/G)TAATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
nsv878033 CNV Loss 21882294
nsv878034 CNV Loss 21882294
nsv518453 CNV Gain 19592680
nsv829803 CNV Gain 17160897
esv2726237 CNV Deletion 23290073
esv29448 CNV Loss 19812545
esv272577 CNV Insertion 20981092

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)

Relevant External Links for TBL1XR1 Gene

HapMap Linkage Disequilibrium report
TBL1XR1
Human Gene Mutation Database (HGMD)
TBL1XR1

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

Disorders for TBL1XR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TBL1XR1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
hemangioma of spleen
  • splenic hemangioma
hemangioma of intra-abdominal structure
  • hemangioma of intra-abdominal structures
intellectual disability
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TBL1XR1

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

No data available for UniProtKB/Swiss-Prot and Genatlas for TBL1XR1 Gene

Publications for TBL1XR1 Gene

  1. The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. (PMID: 11931768) Zhang J. … Roeder R.G. (Mol. Cell 2002) 2 3 4 67
  2. Function of multiple Lis-Homology domain/WD-40 repeat-containing proteins in feed-forward transcriptional repression by silencing mediator for retinoic and thyroid receptor/nuclear receptor corepressor complexes. (PMID: 18202150) Choi H.K. … Yoon H.G. (Mol. Endocrinol. 2008) 3 23
  3. TBL1 and TBLR1 phosphorylation on regulated gene promoters overcomes dual CtBP and NCoR/SMRT transcriptional repression checkpoints. (PMID: 18374649) Perissi V. … Rosenfeld M.G. (Mol. Cell 2008) 3 23
  4. An emerin "proteome": purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture. (PMID: 17620012) Holaska J.M. … Wilson K.L. (Biochemistry 2007) 3 23
  5. TBLR1 regulates the expression of nuclear hormone receptor co-repressors. (PMID: 16893456) Zhang X.M. … Basch R.S. (BMC Cell Biol. 2006) 3 23

Products for TBL1XR1 Gene

Sources for TBL1XR1 Gene

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