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UniProtKB - Q9BZK7 (TBL1R_HUMAN)

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Protein

F-box-like/WD repeat-containing protein TBL1XR1

Gene

TBL1XR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.1 Publication

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB
  • histone binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • transcription corepressor activity Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionActivator, Chromatin regulator, Repressor
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-2032785. YAP1- and WWTR1 (TAZ)-stimulated 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.
R-HSA-8951671. RUNX3 regulates YAP1-mediated transcription.
SignaLinkiQ9BZK7.
SIGNORiQ9BZK7.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box-like/WD repeat-containing protein TBL1XR1
Alternative name(s):
Nuclear receptor corepressor/HDAC3 complex subunit TBLR1
TBL1-related protein 1
Transducin beta-like 1X-related protein 1
Gene namesi
Name:TBL1XR1
Synonyms:IRA1, TBLR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29529. TBL1XR1.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • spindle microtubule Source: UniProtKB
  • transcriptional repressor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Pierpont syndrome (PRPTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling.
See also OMIM:602342
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076759446Y → C in PRPTS; does not affect assembly into the N-Cor repressor complex. 1 PublicationCorresponds to variant dbSNP:rs878854402Ensembl.1
Mental retardation, autosomal dominant 41 (MRD41)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients.
See also OMIM:616944
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07675370G → D in MRD41. 1 PublicationCorresponds to variant dbSNP:rs786205859Ensembl.1
Natural variantiVAR_076755245Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401Ensembl.1
Natural variantiVAR_076756282L → P in MRD41. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi79718.
MalaCardsiTBL1XR1.
MIMi602342. phenotype.
616944. phenotype.
OpenTargetsiENSG00000177565.
Orphaneti520. Acute promyelocytic leukemia.
PharmGKBiPA134928556.

Polymorphism and mutation databases

BioMutaiTBL1XR1.
DMDMi23396874.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000512662 – 514F-box-like/WD repeat-containing protein TBL1XR1Add BLAST513

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei102N6-acetyllysineBy similarity1
Modified residuei119PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BZK7.
MaxQBiQ9BZK7.
PaxDbiQ9BZK7.
PeptideAtlasiQ9BZK7.
PRIDEiQ9BZK7.

PTM databases

iPTMnetiQ9BZK7.
PhosphoSitePlusiQ9BZK7.

Miscellaneous databases

PMAP-CutDBiQ9BZK7.

Expressioni

Tissue specificityi

Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.1 Publication

Gene expression databases

BgeeiENSG00000177565.
CleanExiHS_TBL1XR1.
ExpressionAtlasiQ9BZK7. baseline and differential.
GenevisibleiQ9BZK7. HS.

Organism-specific databases

HPAiHPA019182.

Interactioni

Subunit structurei

Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1XR1, CORO2A and GPS2. Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4.

Binary interactionsi

WithEntry#Exp.IntActNotes
ARL2P364043EBI-765729,EBI-752365

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB
  • histone binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
Complete GO annotation...

Protein-protein interaction databases

BioGridi122834. 66 interactors.
DIPiDIP-34582N.
IntActiQ9BZK7. 28 interactors.
MINTiMINT-2816883.
STRINGi9606.ENSP00000405574.

Structurei

Secondary structure

1514
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi159 – 161Combined sources3
Beta strandi162 – 165Combined sources4
Beta strandi172 – 177Combined sources6
Beta strandi179 – 188Combined sources10
Beta strandi191 – 197Combined sources7
Beta strandi208 – 212Combined sources5
Beta strandi228 – 233Combined sources6
Beta strandi237 – 244Combined sources8
Beta strandi247 – 253Combined sources7
Beta strandi258 – 264Combined sources7
Beta strandi269 – 274Combined sources6
Beta strandi276 – 285Combined sources10
Beta strandi290 – 294Combined sources5
Turni295 – 298Combined sources4
Beta strandi299 – 304Combined sources6
Beta strandi311 – 326Combined sources16
Beta strandi331 – 335Combined sources5
Beta strandi342 – 345Combined sources4
Beta strandi352 – 357Combined sources6
Beta strandi361 – 368Combined sources8
Beta strandi371 – 377Combined sources7
Beta strandi384 – 388Combined sources5
Beta strandi394 – 399Combined sources6
Beta strandi406 – 408Combined sources3
Beta strandi415 – 419Combined sources5
Beta strandi424 – 428Combined sources5
Turni429 – 432Combined sources4
Beta strandi433 – 438Combined sources6
Beta strandi445 – 450Combined sources6
Beta strandi454 – 461Combined sources8
Beta strandi464 – 470Combined sources7
Turni471 – 473Combined sources3
Beta strandi476 – 481Combined sources6
Beta strandi486 – 491Combined sources6
Beta strandi495 – 502Combined sources8
Beta strandi507 – 511Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4LG9X-ray2.28A134-514[»]
ProteinModelPortaliQ9BZK7.
SMRiQ9BZK7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 36LisHPROSITE-ProRule annotationAdd BLAST33
Domaini41 – 86F-box-likeAdd BLAST46
Repeati167 – 206WD 1Add BLAST40
Repeati223 – 262WD 2Add BLAST40
Repeati264 – 303WD 3Add BLAST40
Repeati306 – 344WD 4Add BLAST39
Repeati347 – 386WD 5Add BLAST40
Repeati389 – 437WD 6Add BLAST49
Repeati440 – 479WD 7Add BLAST40
Repeati481 – 513WD 8Add BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi108 – 118Poly-AlaAdd BLAST11

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

eggNOGiENOG410IQU2. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00880000137922.
HOGENOMiHOG000220902.
HOVERGENiHBG050240.
InParanoidiQ9BZK7.
KOiK04508.
OMAiKWDPQGQ.
OrthoDBiEOG091G04MW.
PhylomeDBiQ9BZK7.
TreeFamiTF323190.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR020472. G-protein_beta_WD-40_rep.
IPR006594. LisH.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
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. 2 hits.
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.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9BZK7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSISSDEVNF LVYRYLQESG FSHSAFTFGI ESHISQSNIN GALVPPAALI 
        60         70         80         90        100
SIIQKGLQYV EAEVSINEDG TLFDGRPIES LSLIDAVMPD VVQTRQQAYR 
       110        120        130        140        150
DKLAQQQAAA AAAAAAAASQ QGSAKNGENT ANGEENGAHT IANNHTDMME 
       160        170        180        190        200
VDGDVEIPPN KAVVLRGHES EVFICAWNPV SDLLASGSGD STARIWNLSE 
       210        220        230        240        250
NSTSGSTQLV LRHCIREGGQ DVPSNKDVTS LDWNSEGTLL ATGSYDGFAR 
       260        270        280        290        300
IWTKDGNLAS TLGQHKGPIF ALKWNKKGNF ILSAGVDKTT IIWDAHTGEA 
       310        320        330        340        350
KQQFPFHSAP ALDVDWQSNN TFASCSTDMC IHVCKLGQDR PIKTFQGHTN 
       360        370        380        390        400
EVNAIKWDPT GNLLASCSDD MTLKIWSMKQ DNCVHDLQAH NKEIYTIKWS 
       410        420        430        440        450
PTGPGTNNPN ANLMLASASF DSTVRLWDVD RGICIHTLTK HQEPVYSVAF 
       460        470        480        490        500
SPDGRYLASG SFDKCVHIWN TQTGALVHSY RGTGGIFEVC WNAAGDKVGA 
       510 
SASDGSVCVL DLRK
Length:514
Mass (Da):55,595
Last modified:June 1, 2001 - v1
Checksum:i0B556D2EE4BA796D
GO

Sequence cautioni

The sequence AAH60320 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31E → K in AAG44736 (PubMed:11063877).Curated1
Sequence conflicti59Y → H in BAB14331 (PubMed:14702039).Curated1
Sequence conflicti389A → Q in AAG44736 (PubMed:11063877).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07675370G → D in MRD41. 1 PublicationCorresponds to variant dbSNP:rs786205859Ensembl.1
Natural variantiVAR_076754116A → S1 PublicationCorresponds to variant dbSNP:rs372813783Ensembl.1
Natural variantiVAR_076755245Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401Ensembl.1
Natural variantiVAR_076756282L → P in MRD41. 1 Publication1
Natural variantiVAR_076757405G → E Found in a patient with epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747932785Ensembl.1
Natural variantiVAR_076758407N → S Found in a patient with epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs781011308Ensembl.1
Natural variantiVAR_076759446Y → C in PRPTS; does not affect assembly into the N-Cor repressor complex. 1 PublicationCorresponds to variant dbSNP:rs878854402Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF314544 mRNA. Translation: AAK00301.1.
AF268193 mRNA. Translation: AAG44736.1.
AK022956 mRNA. Translation: BAB14331.1.
CH471052 Genomic DNA. Translation: EAW78438.1.
BC060320 mRNA. Translation: AAH60320.1. Sequence problems.
BC113421 mRNA. Translation: AAI13422.1.
CCDSiCCDS46961.1.
RefSeqiNP_001308122.1. NM_001321193.1.
NP_001308123.1. NM_001321194.1.
NP_001308124.1. NM_001321195.1.
NP_078941.2. NM_024665.5.
XP_005247832.1. XM_005247775.2.
XP_006713809.1. XM_006713746.1.
XP_011511443.1. XM_011513141.1.
XP_011511444.1. XM_011513142.2.
XP_011511445.1. XM_011513143.2.
XP_016862674.1. XM_017007185.1.
UniGeneiHs.714201.
Hs.715026.

Genome annotation databases

EnsembliENST00000430069; ENSP00000405574; ENSG00000177565.
ENST00000457928; ENSP00000413251; ENSG00000177565.
GeneIDi79718.
KEGGihsa:79718.
UCSCiuc003fiw.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiTBL1R_HUMAN
AccessioniPrimary (citable) accession number: Q9BZK7
Secondary accession number(s): D3DNQ9
, Q14DC3, Q9H2I1, Q9H9A1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 2001
Last modified: July 5, 2017
This is version 159 of the entry and version 1 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families