Human Gene TBL1X (uc004css.3)
  Description: Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 3, mRNA.
RefSeq Summary (NM_001139468): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:9,651,431-9,687,780 Size: 36,350 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:9,652,019-9,684,286 Size: 32,268 Coding Exon Count: 13 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:9,651,431-9,687,780)mRNA (may differ from genome)Protein (528 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TBL1X
Diseases sorted by gene-association score: ocular albinism (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.27 RPKM in Uterus
Total median expression: 376.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -190.00588-0.323 Picture PostScript Text
3' UTR -1144.833494-0.328 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF07676 - WD40-like Beta Propeller Repeat
PF12894 - Anaphase-promoting complex subunit 4 WD40 domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q59F53
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
   FlyBase  
   Protein Sequence  
   Alignment  

-  Descriptions from all associated GenBank mRNAs
  AK289409 - Homo sapiens cDNA FLJ76323 complete cds, highly similar to Homo sapiens transducin (beta)-like 1X-linked, mRNA.
AK290962 - Homo sapiens cDNA FLJ76168 complete cds, highly similar to Homo sapiens transducin (beta)-like 1X-linked (TBL1X), mRNA.
BC032708 - Homo sapiens transducin (beta)-like 1X-linked, mRNA (cDNA clone MGC:45225 IMAGE:5496758), complete cds.
Y12781 - Homo sapiens mRNA for transducin (beta) like 1 protein.
BC052304 - Homo sapiens transducin (beta)-like 1X-linked, mRNA (cDNA clone MGC:59682 IMAGE:6378852), complete cds.
CU690904 - Synthetic construct Homo sapiens gateway clone IMAGE:100022495 5' read TBL1X mRNA.
AB527538 - Synthetic construct DNA, clone: pF1KB6101, Homo sapiens TBL1X gene for transducin (beta)-like 1X-linked, without stop codon, in Flexi system.
AB209608 - Homo sapiens mRNA for transducin beta-like 1X variant protein.
LF381072 - JP 2014500723-A/188575: Polycomb-Associated Non-Coding RNAs.
LF381073 - JP 2014500723-A/188576: Polycomb-Associated Non-Coding RNAs.
LF381074 - JP 2014500723-A/188577: Polycomb-Associated Non-Coding RNAs.
LF381075 - JP 2014500723-A/188578: Polycomb-Associated Non-Coding RNAs.
LF381076 - JP 2014500723-A/188579: Polycomb-Associated Non-Coding RNAs.
LF381077 - JP 2014500723-A/188580: Polycomb-Associated Non-Coding RNAs.
LF381078 - JP 2014500723-A/188581: Polycomb-Associated Non-Coding RNAs.
AK126050 - Homo sapiens cDNA FLJ44062 fis, clone TESTI4035602.
LF381080 - JP 2014500723-A/188583: Polycomb-Associated Non-Coding RNAs.
LF381081 - JP 2014500723-A/188584: Polycomb-Associated Non-Coding RNAs.
LF381083 - JP 2014500723-A/188586: Polycomb-Associated Non-Coding RNAs.
LF381084 - JP 2014500723-A/188587: Polycomb-Associated Non-Coding RNAs.
LF381085 - JP 2014500723-A/188588: Polycomb-Associated Non-Coding RNAs.
JD241476 - Sequence 222500 from Patent EP1572962.
JD430806 - Sequence 411830 from Patent EP1572962.
JD490207 - Sequence 471231 from Patent EP1572962.
JD235510 - Sequence 216534 from Patent EP1572962.
JD288930 - Sequence 269954 from Patent EP1572962.
JD044459 - Sequence 25483 from Patent EP1572962.
LF381086 - JP 2014500723-A/188589: Polycomb-Associated Non-Coding RNAs.
LF381087 - JP 2014500723-A/188590: Polycomb-Associated Non-Coding RNAs.
JD406617 - Sequence 387641 from Patent EP1572962.
JD280153 - Sequence 261177 from Patent EP1572962.
JD420937 - Sequence 401961 from Patent EP1572962.
JD519684 - Sequence 500708 from Patent EP1572962.
JD297410 - Sequence 278434 from Patent EP1572962.
JD515871 - Sequence 496895 from Patent EP1572962.
JD202070 - Sequence 183094 from Patent EP1572962.
JD253359 - Sequence 234383 from Patent EP1572962.
JD128879 - Sequence 109903 from Patent EP1572962.
JD128880 - Sequence 109904 from Patent EP1572962.
JD152023 - Sequence 133047 from Patent EP1572962.
JD202134 - Sequence 183158 from Patent EP1572962.
LF381088 - JP 2014500723-A/188591: Polycomb-Associated Non-Coding RNAs.
BC020374 - Homo sapiens transducin (beta)-like 1X-linked, mRNA (cDNA clone IMAGE:3455789).
JD042700 - Sequence 23724 from Patent EP1572962.
JD514724 - Sequence 495748 from Patent EP1572962.
JD167933 - Sequence 148957 from Patent EP1572962.
JD184027 - Sequence 165051 from Patent EP1572962.
JD461794 - Sequence 442818 from Patent EP1572962.
JD152641 - Sequence 133665 from Patent EP1572962.
LF381089 - JP 2014500723-A/188592: Polycomb-Associated Non-Coding RNAs.
JD227997 - Sequence 209021 from Patent EP1572962.
JD432829 - Sequence 413853 from Patent EP1572962.
JD555958 - Sequence 536982 from Patent EP1572962.
JD273055 - Sequence 254079 from Patent EP1572962.
JD379156 - Sequence 360180 from Patent EP1572962.
JD077839 - Sequence 58863 from Patent EP1572962.
JD527924 - Sequence 508948 from Patent EP1572962.
DQ571356 - Homo sapiens piRNA piR-31468, complete sequence.
JD538507 - Sequence 519531 from Patent EP1572962.
JD553488 - Sequence 534512 from Patent EP1572962.
JD128370 - Sequence 109394 from Patent EP1572962.
JD385318 - Sequence 366342 from Patent EP1572962.
JD224862 - Sequence 205886 from Patent EP1572962.
JD040478 - Sequence 21502 from Patent EP1572962.
JD117330 - Sequence 98354 from Patent EP1572962.
JD195011 - Sequence 176035 from Patent EP1572962.
JD460988 - Sequence 442012 from Patent EP1572962.
JD464189 - Sequence 445213 from Patent EP1572962.
JD069676 - Sequence 50700 from Patent EP1572962.
JD101235 - Sequence 82259 from Patent EP1572962.
JD240727 - Sequence 221751 from Patent EP1572962.
JD160240 - Sequence 141264 from Patent EP1572962.
JD173199 - Sequence 154223 from Patent EP1572962.
JD339408 - Sequence 320432 from Patent EP1572962.
JD235331 - Sequence 216355 from Patent EP1572962.
JD520317 - Sequence 501341 from Patent EP1572962.
JD389301 - Sequence 370325 from Patent EP1572962.
MA616649 - JP 2018138019-A/188575: Polycomb-Associated Non-Coding RNAs.
MA616650 - JP 2018138019-A/188576: Polycomb-Associated Non-Coding RNAs.
MA616651 - JP 2018138019-A/188577: Polycomb-Associated Non-Coding RNAs.
MA616652 - JP 2018138019-A/188578: Polycomb-Associated Non-Coding RNAs.
MA616653 - JP 2018138019-A/188579: Polycomb-Associated Non-Coding RNAs.
MA616654 - JP 2018138019-A/188580: Polycomb-Associated Non-Coding RNAs.
MA616655 - JP 2018138019-A/188581: Polycomb-Associated Non-Coding RNAs.
MA616657 - JP 2018138019-A/188583: Polycomb-Associated Non-Coding RNAs.
MA616658 - JP 2018138019-A/188584: Polycomb-Associated Non-Coding RNAs.
MA616660 - JP 2018138019-A/188586: Polycomb-Associated Non-Coding RNAs.
MA616661 - JP 2018138019-A/188587: Polycomb-Associated Non-Coding RNAs.
MA616662 - JP 2018138019-A/188588: Polycomb-Associated Non-Coding RNAs.
MA616663 - JP 2018138019-A/188589: Polycomb-Associated Non-Coding RNAs.
MA616664 - JP 2018138019-A/188590: Polycomb-Associated Non-Coding RNAs.
MA616665 - JP 2018138019-A/188591: Polycomb-Associated Non-Coding RNAs.
MA616666 - JP 2018138019-A/188592: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AB209608, NM_001139468, NP_001132940, Q59F53, Q59F53_HUMAN
UCSC ID: uc004css.3
RefSeq Accession: NM_001139468
Protein: Q59F53 CCDS: CCDS48078.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB209608.1
exon count: 13CDS single in 3' UTR: no RNA size: 4791
ORF size: 1587CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 3096.00frame shift in genome: no % Coverage: 99.98
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 652# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.