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Aliases for TBL1X Gene

Aliases for TBL1X Gene

  • Transducin Beta Like 1X-Linked 2 3 5
  • Transducin-Beta-Like Protein 1, X-Linked 3 4
  • Transducin Beta-Like Protein 1X 3 4
  • SMAP55 3 4
  • TBL1 3 4
  • F-Box-Like/WD Repeat-Containing Protein TBL1X 3
  • Transducin (Beta)-Like 1X-Linked 2
  • Transducin (Beta)-Like 1 2
  • EBI 3

External Ids for TBL1X Gene

Previous HGNC Symbols for TBL1X Gene

  • TBL1

Previous GeneCards Identifiers for TBL1X Gene

  • GC0XP008459
  • GC0XP008247
  • GC0XP008777
  • GC0XP008844
  • GC0XP009242
  • GC0XP009391
  • GC0XP007267

Summaries for TBL1X Gene

Entrez Gene Summary for TBL1X Gene

  • 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]

GeneCards Summary for TBL1X Gene

TBL1X (Transducin Beta Like 1X-Linked) is a Protein Coding gene. Diseases associated with TBL1X include Ocular Albinism. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor binding and transcription regulatory region DNA binding. An important paralog of this gene is TBL1Y.

UniProtKB/Swiss-Prot for TBL1X 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 corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange.

Gene Wiki entry for TBL1X Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBL1X Gene

Genomics for TBL1X Gene

Regulatory Elements for TBL1X Gene

Enhancers for TBL1X Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF009339 1.5 FANTOM5 Ensembl ENCODE 39.9 -121.9 -121894 4.4 ATF1 ARNT KLF13 ZNF263 JUNB REST SMARCA4 NBN STAT3 KDM1A TBL1X FAM9B LOC442443 ENSG00000228543
GH0XF009349 1.5 FANTOM5 Ensembl ENCODE 21 -111.6 -111595 4.2 PKNOX1 ATF1 SIN3A GTF3C2 FOS DEK NCOA1 REST MAFF SMARCA4 TBL1X FAM9B LOC442443 ENSG00000228543
GH0XF009494 1.4 Ensembl ENCODE 12.8 +31.7 31729 2.0 PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TBL1X PIR36104 PIR33292
GH0XF009462 1.5 FANTOM5 ENCODE 9.7 +2.1 2125 6.5 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D TBL1X PIR36104
GH0XF009355 1 FANTOM5 Ensembl ENCODE 12.9 -107.2 -107228 0.9 ZBTB33 YY1 TBL1X FAM9B LOC442443 ENSG00000228543
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBL1X on UCSC Golden Path with GeneCards custom track

Promoters for TBL1X Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001488219 1905 4401 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for TBL1X Gene

Chromosome:
X
Start:
9,463,295 bp from pter
End:
9,719,743 bp from pter
Size:
256,449 bases
Orientation:
Plus strand

Genomic View for TBL1X Gene

Genes around TBL1X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBL1X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBL1X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL1X Gene

Proteins for TBL1X Gene

  • Protein details for TBL1X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60907-TBL1X_HUMAN
    Recommended name:
    F-box-like/WD repeat-containing protein TBL1X
    Protein Accession:
    O60907
    Secondary Accessions:
    • A8K044
    • A8K4J7
    • Q86UY2

    Protein attributes for TBL1X Gene

    Size:
    577 amino acids
    Molecular mass:
    62496 Da
    Quaternary structure:
    • Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1R, CORO2A and GPS2. Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Probably part of other corepressor complexes, that do not contain NCOR1 and NCOR2. Interacts with histones H2B, H3a and H4.

    Three dimensional structures from OCA and Proteopedia for TBL1X Gene

    Alternative splice isoforms for TBL1X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBL1X Gene

Post-translational modifications for TBL1X Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBL1X Gene

Domains & Families for TBL1X Gene

Gene Families for TBL1X Gene

Suggested Antigen Peptide Sequences for TBL1X Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60907

UniProtKB/Swiss-Prot:

TBL1X_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 TBL1X: view

Function for TBL1X Gene

Molecular function for TBL1X 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 corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange.

Gene Ontology (GO) - Molecular Function for TBL1X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IGI 15601853
GO:0005515 protein binding IPI 11931768
GO:0008013 beta-catenin binding IPI 18193033
GO:0008022 protein C-terminus binding IPI 18374649
GO:0008134 transcription factor binding IPI 18193033
genes like me logo Genes that share ontologies with TBL1X: view
genes like me logo Genes that share phenotypes with TBL1X: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBL1X Gene

Localization for TBL1X Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBL1X 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 TBL1X gene
Compartment Confidence
cytoskeleton 5
nucleus 5
mitochondrion 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TBL1X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 colocalizes_with histone deacetylase complex IDA 18326024
GO:0005634 nucleus IEA,IDA 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 TBL1X: view

Pathways & Interactions for TBL1X Gene

genes like me logo Genes that share pathways with TBL1X: view

Gene Ontology (GO) - Biological Process for TBL1X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12628926
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IMP 18374649
GO:0007605 sensory perception of sound IMP 10330347
genes like me logo Genes that share ontologies with TBL1X: view

No data available for SIGNOR curated interactions for TBL1X Gene

Transcripts for TBL1X Gene

Unigene Clusters for TBL1X Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBL1X Gene

No ASD Table

Relevant External Links for TBL1X Gene

GeneLoc Exon Structure for
TBL1X
ECgene alternative splicing isoforms for
TBL1X

Expression for TBL1X Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBL1X Gene

Protein differential expression in normal tissues from HIPED for TBL1X Gene

This gene is overexpressed in Heart (25.7), Monocytes (19.0), and CD8 Tcells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBL1X Gene



Protein tissue co-expression partners for TBL1X Gene

NURSA nuclear receptor signaling pathways regulating expression of TBL1X Gene:

TBL1X

SOURCE GeneReport for Unigene cluster for TBL1X Gene:

Hs.495656

mRNA Expression by UniProt/SwissProt for TBL1X Gene:

O60907-TBL1X_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with TBL1X: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TBL1X Gene

Orthologs for TBL1X Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBL1X Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBL1X 34
  • 94.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TBL1X 34
  • 88.02 (n)
cow
(Bos Taurus)
Mammalia TBL1X 34
  • 86.57 (n)
rat
(Rattus norvegicus)
Mammalia Tbl1x 34
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Tbl1x 34 16
  • 85.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves TBL1X 34 35
  • 83.05 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl1x 34
  • 77.69 (n)
zebrafish
(Danio rerio)
Actinopterygii tbl1x 34 35
  • 74.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta ebi 36 34 35
  • 68.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007739 34
  • 65.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIF2 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2678 35
  • 69 (a)
OneToMany
Species where no ortholog for TBL1X was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBL1X Gene

ENSEMBL:
Gene Tree for TBL1X (if available)
TreeFam:
Gene Tree for TBL1X (if available)

Paralogs for TBL1X Gene

Paralogs for TBL1X Gene

(3) SIMAP similar genes for TBL1X Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TBL1X: view

Variants for TBL1X Gene

Sequence variations from dbSNP and Humsavar for TBL1X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1006912 -- 9,709,559(+) CCCCC(A/G)GGAGG intron-variant
rs10126093 -- 9,651,666(+) CTCTA(A/G)TATTT intron-variant
rs10126773 -- 9,527,219(+) AGCAG(C/T)GTCTC intron-variant
rs10126867 -- 9,547,615(+) gcgcc(C/T)agcct intron-variant
rs1016975 -- 9,685,404(-) CTGAG(A/G)CAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBL1X Gene

Variant ID Type Subtype PubMed ID
nsv6794 CNV insertion 18451855
nsv6793 CNV deletion 18451855
nsv469613 CNV gain+loss 16826518
nsv1126941 CNV deletion 24896259
esv3350570 CNV duplication 20981092
esv2758860 CNV gain 17122850
esv2739955 CNV deletion 23290073
esv2609262 CNV deletion 19546169
esv25135 CNV loss 19812545
dgv2217e212 CNV loss 25503493
dgv2216e212 CNV loss 25503493

Variation tolerance for TBL1X Gene

Residual Variation Intolerance Score: 4.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBL1X Gene

Human Gene Mutation Database (HGMD)
TBL1X
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBL1X

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBL1X Gene

Disorders for TBL1X Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBL1X Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ocular albinism
  • albinism, ocular
- elite association - COSMIC cancer census association via MalaCards
Search TBL1X in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBL1X

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBL1X
genes like me logo Genes that share disorders with TBL1X: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBL1X Gene

Publications for TBL1X Gene

  1. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. (PMID: 10330347) Bassi M.T. … Borsani G. (Am. J. Hum. Genet. 1999) 2 3 4 22 64
  2. A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. (PMID: 14980219) Perissi V. … Rosenfeld M.G. (Cell 2004) 3 4 22 64
  3. Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1. (PMID: 12628926) Yoon H.-G. … Wong J. (EMBO J. 2003) 3 4 22 64
  4. A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40- repeat protein linked to deafness. (PMID: 10809664) Guenther M.G. … Shiekhattar R. (Genes Dev. 2000) 3 4 22 64
  5. Both corepressor proteins SMRT and N-CoR exist in large protein complexes containing HDAC3. (PMID: 10944117) Li J. … Wong J. (EMBO J. 2000) 3 4 22 64

Products for TBL1X Gene

Sources for TBL1X Gene

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