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Protein

F-box-like/WD repeat-containing protein TBL1X

Gene

TBL1X

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). 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 (PubMed:21240272).2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-1368082 RORA activates gene expression
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-3214815 HDACs deacetylate histones
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-400253 Circadian Clock
SignaLinkiO60907

Names & Taxonomyi

Protein namesi
Recommended name:
F-box-like/WD repeat-containing protein TBL1X
Alternative name(s):
SMAP55
Transducin beta-like protein 1X
Transducin-beta-like protein 1, X-linked
Gene namesi
Name:TBL1X
Synonyms:TBL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000101849.15
HGNCiHGNC:11585 TBL1X
MIMi300196 gene
neXtProtiNX_O60907

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77F → A: Abolished homotetramerization, leading to a homodimer. 1 Publication1
Mutagenesisi90I → A: Reduced interaction with NCOR2 and GPS2. 1 Publication1
Mutagenesisi94L → A or E: Does not affect interaction with NCOR2 and GPS2. 1 Publication1
Mutagenesisi96P → G: Does not affect interaction with NCOR2 and GPS2. 1 Publication1
Mutagenesisi108L → A or Q: Reduced interaction with NCOR2 and GPS2. 1 Publication1
Mutagenesisi111V → N or Q: Reduced interaction with NCOR2 and GPS2. Abolished ability to repress transcription. 1 Publication1
Mutagenesisi117I → A: Does not affect interaction with NCOR2 and GPS2. 1 Publication1

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNETi6907
OpenTargetsiENSG00000101849
PharmGKBiPA36349

Polymorphism and mutation databases

BioMutaiTBL1X

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000512631 – 577F-box-like/WD repeat-containing protein TBL1XAdd BLAST577

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei153N6-acetyllysineBy similarity1
Modified residuei183PhosphoserineBy similarity1
Cross-linki340Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO60907
MaxQBiO60907
PaxDbiO60907
PeptideAtlasiO60907
PRIDEiO60907
ProteomicsDBi49664
49665 [O60907-2]

PTM databases

iPTMnetiO60907
PhosphoSitePlusiO60907

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000101849 Expressed in 227 organ(s), highest expression level in cauda epididymis
CleanExiHS_TBL1X
ExpressionAtlasiO60907 baseline and differential
GenevisibleiO60907 HS

Organism-specific databases

HPAiCAB005363
HPA067703

Interactioni

Subunit structurei

Homotetramer; dimer of dimers (PubMed:21240272). Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1R, CORO2A and GPS2 (PubMed:10809664, PubMed:21240272). Interacts with GPS2 (when sumoylated); leading to protect GPS2 against degradation by the proteasome (PubMed:24943844). Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X (PubMed:11389839). Probably part of other corepressor complexes, that do not contain NCOR1 and NCOR2. Interacts with histones H2B, H3a and H4. Interacts with MECP2; recuits TBL1X to the heterochromatin foci (By similarity).By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112770, 67 interactors
CORUMiO60907
DIPiDIP-60532N
IntActiO60907, 18 interactors
MINTiO60907
STRINGi9606.ENSP00000217964

Structurei

Secondary structure

1577
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO60907
SMRiO60907
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO60907

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini55 – 87LisHPROSITE-ProRule annotationAdd BLAST33
Domaini92 – 137F-box-likeAdd BLAST46
Repeati230 – 269WD 1Add BLAST40
Repeati286 – 325WD 2Add BLAST40
Repeati327 – 366WD 3Add BLAST40
Repeati369 – 409WD 4Add BLAST41
Repeati410 – 449WD 5Add BLAST40
Repeati452 – 500WD 6Add BLAST49
Repeati503 – 542WD 7Add BLAST40
Repeati544 – 576WD 8Add BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi159 – 175Poly-AlaAdd BLAST17

Domaini

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.By similarity

Sequence similaritiesi

Belongs to the WD repeat EBI family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0273 Eukaryota
ENOG410XRSY LUCA
GeneTreeiENSGT00890000139430
HOGENOMiHOG000220902
HOVERGENiHBG050240
InParanoidiO60907
KOiK04508
OMAiNNHAKPM
OrthoDBiEOG091G04MW
PhylomeDBiO60907
TreeFamiTF323190

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR006594 LisH
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08513 LisH, 1 hit
PF00400 WD40, 6 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SM00320 WD40, 8 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit
PS00678 WD_REPEATS_1, 4 hits
PS50082 WD_REPEATS_2, 6 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60907-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTELAGASSS CCHRPAGRGA MQSVLHHFQR LRGREGGSHF INTSSPRGEA
60 70 80 90 100
KMSITSDEVN FLVYRYLQES GFSHSAFTFG IESHISQSNI NGTLVPPAAL
110 120 130 140 150
ISILQKGLQY VEAEISINED GTVFDGRPIE SLSLIDAVMP DVVQTRQQAF
160 170 180 190 200
REKLAQQQAS AAAAAAAATA AATAATTTSA GVSHQNPSKN REATVNGEEN
210 220 230 240 250
RAHSVNNHAK PMEIDGEVEI PSSKATVLRG HESEVFICAW NPVSDLLASG
260 270 280 290 300
SGDSTARIWN LNENSNGGST QLVLRHCIRE GGHDVPSNKD VTSLDWNTNG
310 320 330 340 350
TLLATGSYDG FARIWTEDGN LASTLGQHKG PIFALKWNRK GNYILSAGVD
360 370 380 390 400
KTTIIWDAHT GEAKQQFPFH SAPALDVDWQ NNTTFASCST DMCIHVCRLG
410 420 430 440 450
CDRPVKTFQG HTNEVNAIKW DPSGMLLASC SDDMTLKIWS MKQEVCIHDL
460 470 480 490 500
QAHNKEIYTI KWSPTGPATS NPNSNIMLAS ASFDSTVRLW DIERGVCTHT
510 520 530 540 550
LTKHQEPVYS VAFSPDGKYL ASGSFDKCVH IWNTQSGNLV HSYRGTGGIF
560 570
EVCWNARGDK VGASASDGSV CVLDLRK
Length:577
Mass (Da):62,496
Last modified:April 14, 2009 - v3
Checksum:iD830A37781E2A15C
GO
Isoform 2 (identifier: O60907-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Show »
Length:526
Mass (Da):57,049
Checksum:i98922F88EC42F6E9
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YFW3A0A2R8YFW3_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
526Annotation score:
C9JYQ8C9JYQ8_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
75Annotation score:
C9JCW3C9JCW3_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
44Annotation score:
C9J5F9C9J5F9_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
79Annotation score:
C9JP56C9JP56_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
59Annotation score:
A0A2R8Y757A0A2R8Y757_HUMAN
F-box-like/WD repeat-containing pro...
TBL1X
112Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti316T → A in BAF82098 (PubMed:14702039).Curated1
Sequence conflicti390T → A in BAF83651 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0369051 – 51Missing in isoform 2. 2 PublicationsAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12781 mRNA Translation: CAA73319.1
AK289409 mRNA Translation: BAF82098.1
AK290962 mRNA Translation: BAF83651.1
AC003036 Genomic DNA No translation available.
BC032708 mRNA Translation: AAH32708.1
BC052304 mRNA Translation: AAH52304.1
CCDSiCCDS14133.1 [O60907-1]
CCDS48078.1 [O60907-2]
RefSeqiNP_001132938.1, NM_001139466.1 [O60907-1]
NP_001132939.1, NM_001139467.1 [O60907-2]
NP_001132940.1, NM_001139468.1 [O60907-2]
NP_005638.1, NM_005647.3 [O60907-1]
XP_011543873.1, XM_011545571.2 [O60907-2]
UniGeneiHs.495656

Genome annotation databases

EnsembliENST00000217964; ENSP00000217964; ENSG00000101849 [O60907-1]
ENST00000380961; ENSP00000370348; ENSG00000101849 [O60907-2]
ENST00000407597; ENSP00000385988; ENSG00000101849 [O60907-1]
ENST00000424279; ENSP00000394097; ENSG00000101849 [O60907-2]
ENST00000645353; ENSP00000496215; ENSG00000101849 [O60907-1]
ENST00000645686; ENSP00000493782; ENSG00000101849 [O60907-1]
ENST00000646640; ENSP00000495556; ENSG00000101849 [O60907-1]
GeneIDi6907
KEGGihsa:6907
UCSCiuc004csq.5 human [O60907-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12781 mRNA Translation: CAA73319.1
AK289409 mRNA Translation: BAF82098.1
AK290962 mRNA Translation: BAF83651.1
AC003036 Genomic DNA No translation available.
BC032708 mRNA Translation: AAH32708.1
BC052304 mRNA Translation: AAH52304.1
CCDSiCCDS14133.1 [O60907-1]
CCDS48078.1 [O60907-2]
RefSeqiNP_001132938.1, NM_001139466.1 [O60907-1]
NP_001132939.1, NM_001139467.1 [O60907-2]
NP_001132940.1, NM_001139468.1 [O60907-2]
NP_005638.1, NM_005647.3 [O60907-1]
XP_011543873.1, XM_011545571.2 [O60907-2]
UniGeneiHs.495656

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XTCX-ray2.22A/B52-141[»]
2XTDX-ray3.20A/B52-122[»]
2XTEX-ray3.90A/B/C/D/E/F/G/H/I/J/K/L52-141[»]
ProteinModelPortaliO60907
SMRiO60907
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112770, 67 interactors
CORUMiO60907
DIPiDIP-60532N
IntActiO60907, 18 interactors
MINTiO60907
STRINGi9606.ENSP00000217964

PTM databases

iPTMnetiO60907
PhosphoSitePlusiO60907

Polymorphism and mutation databases

BioMutaiTBL1X

Proteomic databases

EPDiO60907
MaxQBiO60907
PaxDbiO60907
PeptideAtlasiO60907
PRIDEiO60907
ProteomicsDBi49664
49665 [O60907-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000217964; ENSP00000217964; ENSG00000101849 [O60907-1]
ENST00000380961; ENSP00000370348; ENSG00000101849 [O60907-2]
ENST00000407597; ENSP00000385988; ENSG00000101849 [O60907-1]
ENST00000424279; ENSP00000394097; ENSG00000101849 [O60907-2]
ENST00000645353; ENSP00000496215; ENSG00000101849 [O60907-1]
ENST00000645686; ENSP00000493782; ENSG00000101849 [O60907-1]
ENST00000646640; ENSP00000495556; ENSG00000101849 [O60907-1]
GeneIDi6907
KEGGihsa:6907
UCSCiuc004csq.5 human [O60907-1]

Organism-specific databases

CTDi6907
DisGeNETi6907
EuPathDBiHostDB:ENSG00000101849.15
GeneCardsiTBL1X
HGNCiHGNC:11585 TBL1X
HPAiCAB005363
HPA067703
MIMi300196 gene
neXtProtiNX_O60907
OpenTargetsiENSG00000101849
PharmGKBiPA36349
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0273 Eukaryota
ENOG410XRSY LUCA
GeneTreeiENSGT00890000139430
HOGENOMiHOG000220902
HOVERGENiHBG050240
InParanoidiO60907
KOiK04508
OMAiNNHAKPM
OrthoDBiEOG091G04MW
PhylomeDBiO60907
TreeFamiTF323190

Enzyme and pathway databases

ReactomeiR-HSA-1368082 RORA activates gene expression
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-3214815 HDACs deacetylate histones
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-400253 Circadian Clock
SignaLinkiO60907

Miscellaneous databases

ChiTaRSiTBL1X human
EvolutionaryTraceiO60907
GeneWikiiTBL1X
GenomeRNAii6907
PROiPR:O60907
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101849 Expressed in 227 organ(s), highest expression level in cauda epididymis
CleanExiHS_TBL1X
ExpressionAtlasiO60907 baseline and differential
GenevisibleiO60907 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR006594 LisH
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08513 LisH, 1 hit
PF00400 WD40, 6 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SM00320 WD40, 8 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit
PS00678 WD_REPEATS_1, 4 hits
PS50082 WD_REPEATS_2, 6 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBL1X_HUMAN
AccessioniPrimary (citable) accession number: O60907
Secondary accession number(s): A8K044, A8K4J7, Q86UY2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: April 14, 2009
Last modified: November 7, 2018
This is version 181 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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