UniProtKB - Q9BZK7 (TBL1R_HUMAN)
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Protein
F-box-like/WD repeat-containing protein TBL1XR1
Gene
TBL1XR1
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- fat pad development Source: Ensembl
- histone deacetylation Source: GO_Central
- lipid catabolic process Source: Ensembl
- multicellular organism growth Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of canonical Wnt signaling pathway Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
- regulation of cAMP metabolic process Source: Ensembl
- regulation of lipid metabolic process Source: Reactome
- regulation of triglyceride metabolic process Source: Ensembl
- response to dietary excess Source: Ensembl
- transcription, DNA-templated Source: UniProtKB-KW
- white fat cell differentiation Source: Ensembl
Keywordsi
Molecular function | Activator, Chromatin regulator, Repressor |
Biological process | Transcription, Transcription regulation, Ubl conjugation pathway |
Enzyme and pathway databases
Reactomei | R-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 |
SignaLinki | Q9BZK7 |
SIGNORi | Q9BZK7 |
Names & Taxonomyi
Protein namesi | Recommended name: F-box-like/WD repeat-containing protein TBL1XR1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177565.15 |
HGNCi | HGNC:29529 TBL1XR1 |
MIMi | 608628 gene |
neXtProti | NX_Q9BZK7 |
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:602342Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076759 | 446 | Y → 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:616944Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076753 | 70 | G → D in MRD41. 1 PublicationCorresponds to variant dbSNP:rs786205859Ensembl. | 1 | |
Natural variantiVAR_076755 | 245 | Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401Ensembl. | 1 | |
Natural variantiVAR_076756 | 282 | L → P in MRD41. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 79718 |
MalaCardsi | TBL1XR1 |
MIMi | 602342 phenotype 616944 phenotype |
OpenTargetsi | ENSG00000177565 |
Orphaneti | 520 Acute promyelocytic leukemia |
PharmGKBi | PA134928556 |
Polymorphism and mutation databases
BioMutai | TBL1XR1 |
DMDMi | 23396874 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000051266 | 2 – 514 | F-box-like/WD repeat-containing protein TBL1XR1Add BLAST | 513 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 102 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 119 | PhosphoserineCombined sources | 1 | |
Cross-linki | 277 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9BZK7 |
MaxQBi | Q9BZK7 |
PaxDbi | Q9BZK7 |
PeptideAtlasi | Q9BZK7 |
PRIDEi | Q9BZK7 |
PTM databases
iPTMneti | Q9BZK7 |
PhosphoSitePlusi | Q9BZK7 |
Miscellaneous databases
PMAP-CutDBi | Q9BZK7 |
Expressioni
Tissue specificityi
Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.1 Publication
Gene expression databases
Bgeei | ENSG00000177565 |
CleanExi | HS_TBL1XR1 |
ExpressionAtlasi | Q9BZK7 baseline and differential |
Genevisiblei | Q9BZK7 HS |
Organism-specific databases
HPAi | HPA019182 |
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
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
ARL2 | P36404 | 3 | EBI-765729,EBI-752365 |
GO - Molecular functioni
- beta-catenin binding Source: UniProtKB
- histone binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 12283474 interactors. |
CORUMi | Q9BZK7 |
DIPi | DIP-34582N |
IntActi | Q9BZK7 31 interactors. |
MINTi | Q9BZK7 |
STRINGi | 9606.ENSP00000405574 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 159 – 161 | Combined sources | 3 | |
Beta strandi | 162 – 165 | Combined sources | 4 | |
Beta strandi | 172 – 177 | Combined sources | 6 | |
Beta strandi | 179 – 188 | Combined sources | 10 | |
Beta strandi | 191 – 197 | Combined sources | 7 | |
Beta strandi | 208 – 212 | Combined sources | 5 | |
Beta strandi | 228 – 233 | Combined sources | 6 | |
Beta strandi | 237 – 244 | Combined sources | 8 | |
Beta strandi | 247 – 253 | Combined sources | 7 | |
Beta strandi | 258 – 264 | Combined sources | 7 | |
Beta strandi | 269 – 274 | Combined sources | 6 | |
Beta strandi | 276 – 285 | Combined sources | 10 | |
Beta strandi | 290 – 294 | Combined sources | 5 | |
Turni | 295 – 298 | Combined sources | 4 | |
Beta strandi | 299 – 304 | Combined sources | 6 | |
Beta strandi | 311 – 326 | Combined sources | 16 | |
Beta strandi | 331 – 335 | Combined sources | 5 | |
Beta strandi | 342 – 345 | Combined sources | 4 | |
Beta strandi | 352 – 357 | Combined sources | 6 | |
Beta strandi | 361 – 368 | Combined sources | 8 | |
Beta strandi | 371 – 377 | Combined sources | 7 | |
Beta strandi | 384 – 388 | Combined sources | 5 | |
Beta strandi | 394 – 399 | Combined sources | 6 | |
Beta strandi | 406 – 408 | Combined sources | 3 | |
Beta strandi | 415 – 419 | Combined sources | 5 | |
Beta strandi | 424 – 428 | Combined sources | 5 | |
Turni | 429 – 432 | Combined sources | 4 | |
Beta strandi | 433 – 438 | Combined sources | 6 | |
Beta strandi | 445 – 450 | Combined sources | 6 | |
Beta strandi | 454 – 461 | Combined sources | 8 | |
Beta strandi | 464 – 470 | Combined sources | 7 | |
Turni | 471 – 473 | Combined sources | 3 | |
Beta strandi | 476 – 481 | Combined sources | 6 | |
Beta strandi | 486 – 491 | Combined sources | 6 | |
Beta strandi | 495 – 502 | Combined sources | 8 | |
Beta strandi | 507 – 511 | Combined sources | 5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4LG9 | X-ray | 2.28 | A | 134-514 | [»] | |
ProteinModelPortali | Q9BZK7 | |||||
SMRi | Q9BZK7 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 36 | LisHPROSITE-ProRule annotationAdd BLAST | 33 | |
Domaini | 41 – 86 | F-box-likeAdd BLAST | 46 | |
Repeati | 167 – 206 | WD 1Add BLAST | 40 | |
Repeati | 223 – 262 | WD 2Add BLAST | 40 | |
Repeati | 264 – 303 | WD 3Add BLAST | 40 | |
Repeati | 306 – 344 | WD 4Add BLAST | 39 | |
Repeati | 347 – 386 | WD 5Add BLAST | 40 | |
Repeati | 389 – 437 | WD 6Add BLAST | 49 | |
Repeati | 440 – 479 | WD 7Add BLAST | 40 | |
Repeati | 481 – 513 | WD 8Add BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 108 – 118 | Poly-AlaAdd BLAST | 11 |
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 repeatPhylogenomic databases
eggNOGi | ENOG410IQU2 Eukaryota COG2319 LUCA |
GeneTreei | ENSGT00890000139430 |
HOGENOMi | HOG000220902 |
HOVERGENi | HBG050240 |
InParanoidi | Q9BZK7 |
KOi | K04508 |
OMAi | LNYLIWR |
OrthoDBi | EOG091G04MW |
PhylomeDBi | Q9BZK7 |
TreeFami | TF323190 |
Family and domain databases
Gene3Di | 2.130.10.101 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF08513 LisH, 1 hit PF00400 WD40, 6 hits |
PRINTSi | PR00320 GPROTEINBRPT |
SMARTi | View protein in SMART SM00667 LisH, 1 hit SM00320 WD40, 8 hits |
SUPFAMi | SSF50978 SSF50978, 2 hits |
PROSITEi | View 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 |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9BZK7-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAH60320 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 31 | E → K in AAG44736 (PubMed:11063877).Curated | 1 | |
Sequence conflicti | 59 | Y → H in BAB14331 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 389 | A → Q in AAG44736 (PubMed:11063877).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076753 | 70 | G → D in MRD41. 1 PublicationCorresponds to variant dbSNP:rs786205859Ensembl. | 1 | |
Natural variantiVAR_076754 | 116 | A → S1 PublicationCorresponds to variant dbSNP:rs372813783Ensembl. | 1 | |
Natural variantiVAR_076755 | 245 | Y → C in MRD41. 1 PublicationCorresponds to variant dbSNP:rs878854401Ensembl. | 1 | |
Natural variantiVAR_076756 | 282 | L → P in MRD41. 1 Publication | 1 | |
Natural variantiVAR_076757 | 405 | G → E Found in a patient with epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747932785Ensembl. | 1 | |
Natural variantiVAR_076758 | 407 | N → S Found in a patient with epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs781011308Ensembl. | 1 | |
Natural variantiVAR_076759 | 446 | Y → 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 |
CCDSi | CCDS46961.1 |
RefSeqi | NP_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 |
UniGenei | Hs.714201 Hs.715026 |
Genome annotation databases
Ensembli | ENST00000430069; ENSP00000405574; ENSG00000177565 ENST00000457928; ENSP00000413251; ENSG00000177565 |
GeneIDi | 79718 |
KEGGi | hsa:79718 |
UCSCi | uc003fiw.5 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | TBL1R_HUMAN | |
Accessioni | Q9BZK7Primary (citable) accession number: Q9BZK7 Secondary accession number(s): D3DNQ9 Q9H9A1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | June 1, 2001 | |
Last modified: | March 28, 2018 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |