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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: -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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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-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
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

EuPathDBiHostDB:ENSG00000177565.15
HGNCiHGNC:29529 TBL1XR1
MIMi608628 gene
neXtProtiNX_Q9BZK7

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

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:rs878854402EnsemblClinVar.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:rs786205859EnsemblClinVar.1
Natural variantiVAR_076755245Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401EnsemblClinVar.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
Cross-linki277Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

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 (PubMed:11931768). Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4 (PubMed:12628926). Interacts with MECP2; bridges interaction between MECP2 and NCOR1 (By similarity).By similarity2 Publications

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
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi122834, 74 interactors
CORUMiQ9BZK7
DIPiDIP-34582N
IntActiQ9BZK7, 32 interactors
MINTiQ9BZK7
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
GeneTreeiENSGT00890000139430
HOGENOMiHOG000220902
HOVERGENiHBG050240
InParanoidiQ9BZK7
KOiK04508
OMAiLNYLIWR
OrthoDBiEOG091G04MW
PhylomeDBiQ9BZK7
TreeFamiTF323190

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR006594 LisH
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, 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:rs786205859EnsemblClinVar.1
Natural variantiVAR_076754116A → S1 PublicationCorresponds to variant dbSNP:rs372813783EnsemblClinVar.1
Natural variantiVAR_076755245Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401EnsemblClinVar.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:rs878854402EnsemblClinVar.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

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: May 23, 2018
This is version 166 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

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