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Aliases for TBL1X Gene

Aliases for TBL1X Gene

  • Transducin (Beta)-Like 1X-Linked 2 3
  • TBL1 3 4 6
  • Transducin-Beta-Like Protein 1, X-Linked 3 4
  • Transducin Beta-Like Protein 1X 3 4
  • SMAP55 3 4
  • F-Box-Like/WD Repeat-Containing Protein TBL1X 3
  • Transducin (Beta)-Like 1 2
  • EBI 3

External Ids for TBL1X Gene

Previous Symbols for TBL1X Gene

  • TBL1

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 and albinism. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include transcription factor binding and transcription regulatory region DNA binding. An important paralog of this gene is THOC3.

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

Genomic Location for TBL1X Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBL1X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL1X Gene

Regulatory Elements 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

Proteomics data for TBL1X Gene at MOPED

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 for TBL1X Gene

Gene Families for TBL1X Gene

HGNC:
  • WDR :WD repeat domain containing

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
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.:
    • O60907
  • Contains 1 F-box-like domain.:
    • O60907
  • Contains 1 LisH domain.:
    • O60907
Family:
  • Belongs to the WD repeat EBI family.:
    • O60907
Similarity:
  • Contains 8 WD repeats.:
    • O60907
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

Phenotypes for TBL1X Gene

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

miRNA for TBL1X Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBL1X Gene

Localization for TBL1X Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBL1X Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBL1X Gene COMPARTMENTS Subcellular localization image for TBL1X gene
Compartment Confidence
cytoskeleton 5
nucleus 5
mitochondrion 2
cytosol 1
peroxisome 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 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 for TBL1X Gene

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

Pathways by source for TBL1X Gene

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:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006508 proteolysis IMP 18374649
GO:0007219 Notch signaling pathway TAS --
genes like me logo Genes that share ontologies with TBL1X: view

Transcripts for TBL1X Gene

Unigene Clusters for TBL1X Gene

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

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 for TBL1X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBL1X Gene

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 expressions with TBL1X: view

No data available for 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 35
  • 94.34 (n)
  • 93.87 (a)
cow
(Bos Taurus)
Mammalia TBL1X 35
  • 86.57 (n)
  • 94.87 (a)
dog
(Canis familiaris)
Mammalia TBL1X 35
  • 88.02 (n)
  • 93.92 (a)
mouse
(Mus musculus)
Mammalia Tbl1x 35
  • 85.74 (n)
  • 94.3 (a)
Tbl1x 16
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tbl1x 35
  • 85.8 (n)
  • 94.3 (a)
chicken
(Gallus gallus)
Aves TBL1X 35
  • 83.05 (n)
  • 94.07 (a)
TBL1X 36
  • 94 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl1x 35
  • 77.69 (n)
  • 91.35 (a)
zebrafish
(Danio rerio)
Actinopterygii tbl1x 35
  • 74.97 (n)
  • 85.1 (a)
tbl1x 36
  • 85 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007739 35
  • 65.34 (n)
  • 76.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta ebi 35
  • 68.79 (n)
  • 80.44 (a)
ebi 36
  • 55 (a)
OneToMany
ebi 37
  • 75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIF2 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2678 36
  • 69 (a)
OneToMany
Species with no ortholog for TBL1X:
  • 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

Selected 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 MAF
rs7256 -- 9,718,641(+) TTAGG(A/G)CATGG utr-variant-3-prime
rs718020 -- 9,598,576(+) CATAA(A/T)TAGCT intron-variant
rs719164 -- 9,596,856(+) ACCCA(C/T)GAGTA intron-variant
rs719165 -- 9,596,859(+) CACGA(A/G)TAAGG intron-variant
rs726766 -- 9,532,130(-) GCTCA(A/G)GAGGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2437e1 CNV Complex 17122850
nsv469613 CNV Complex 16826518
esv25135 CNV Loss 19812545
esv2609262 CNV Deletion 19546169
nsv6793 CNV Loss 18451855
nsv6794 CNV Insertion 18451855
esv2739955 CNV Deletion 23290073

Relevant External Links for TBL1X Gene

HapMap Linkage Disequilibrium report
TBL1X
Human Gene Mutation Database (HGMD)
TBL1X

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

Disorders for TBL1X Gene

(2) MalaCards Diseases for TBL1X Gene

Search for TBL1X Gene in MalaCards »

(1) Novoseek inferred disease relationships for TBL1X Gene

Disease -log(P) Hits PubMed IDs
deafness sensorineural 62.6 3
genes like me logo Genes that share disorders with TBL1X: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for TBL1X Gene

Sources for TBL1X Gene

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