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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
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_HUMANUCSC ID: uc004css.3RefSeq Accession: NM_001139468
Protein: Q59F53
CCDS: CCDS48078.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AB209608.1
exon count:
13 CDS single in 3' UTR:
no
RNA size:
4791
ORF size:
1587 CDS single in intron:
no
Alignment % ID:
99.96
txCdsPredict score:
3096.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.