Q9BZK7 · TBL1R_HUMAN
- ProteinF-box-like/WD repeat-containing protein TBL1XR1
- GeneTBL1XR1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids514 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameF-box-like/WD repeat-containing protein TBL1XR1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BZK7
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Pierpont syndrome (PRPTS)
- Note
- 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 alsoMIM:602342
Natural variants in PRPTS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_076759 | 446 | Y>C | in PRPTS; does not affect assembly into the N-Cor repressor complex; dbSNP:rs878854402 |
Intellectual developmental disorder, autosomal dominant 41 (MRD41)
- Note
- DescriptionA 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 alsoMIM:616944
Natural variants in MRD41
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_076753 | 70 | G>D | in MRD41; dbSNP:rs786205859 | |
VAR_076755 | 245 | Y>C | in MRD41; dbSNP:rs878854401 | |
VAR_076756 | 282 | L>P | in MRD41 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_076753 | 70 | in MRD41; dbSNP:rs786205859 | |||
Sequence: G → D | ||||||
Natural variant | VAR_076754 | 116 | in dbSNP:rs372813783 | |||
Sequence: A → S | ||||||
Natural variant | VAR_076755 | 245 | in MRD41; dbSNP:rs878854401 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_076756 | 282 | in MRD41 | |||
Sequence: L → P | ||||||
Natural variant | VAR_076757 | 405 | found in a patient with epilepsy; uncertain significance; dbSNP:rs747932785 | |||
Sequence: G → E | ||||||
Natural variant | VAR_076758 | 407 | found in a patient with epilepsy; uncertain significance; dbSNP:rs781011308 | |||
Sequence: N → S | ||||||
Natural variant | VAR_076759 | 446 | in PRPTS; does not affect assembly into the N-Cor repressor complex; dbSNP:rs878854402 | |||
Sequence: Y → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 660 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylserine | ||||
Sequence: S | |||||||
Chain | PRO_0000051266 | 2-514 | UniProt | F-box-like/WD repeat-containing protein TBL1XR1 | |||
Sequence: SISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYVEAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPTGNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASFDSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSYRGTGGIFEVCWNAAGDKVGASASDGSVCVLDLRK | |||||||
Modified residue | 102 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 119 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 119 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 123 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 202 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 277 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 446 | PRIDE | Phosphotyrosine | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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).
Interacts with USP44 (PubMed:27880911).
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).
Interacts with USP44 (PubMed:27880911).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BZK7 | ARL2 P36404 | 4 | EBI-765729, EBI-752365 | |
BINARY | Q9BZK7 | ATXN1 P54253 | 6 | EBI-765729, EBI-930964 | |
BINARY | Q9BZK7 | DNALI1 O14645 | 3 | EBI-765729, EBI-395638 | |
BINARY | Q9BZK7 | KLF11 O14901 | 3 | EBI-765729, EBI-948266 | |
BINARY | Q9BZK7 | SOD1 P00441 | 3 | EBI-765729, EBI-990792 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 4-36 | LisH | ||||
Sequence: SSDEVNFLVYRYLQESGFSHSAFTFGIESHISQ | ||||||
Domain | 41-86 | F-box-like | ||||
Sequence: GALVPPAALISIIQKGLQYVEAEVSINEDGTLFDGRPIESLSLIDA | ||||||
Region | 120-139 | Disordered | ||||
Sequence: QQGSAKNGENTANGEENGAH | ||||||
Repeat | 167-206 | WD 1 | ||||
Sequence: GHESEVFICAWNPVSDLLASGSGDSTARIWNLSENSTSGS | ||||||
Repeat | 223-262 | WD 2 | ||||
Sequence: PSNKDVTSLDWNSEGTLLATGSYDGFARIWTKDGNLASTL | ||||||
Repeat | 264-303 | WD 3 | ||||
Sequence: QHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEAKQQ | ||||||
Repeat | 306-344 | WD 4 | ||||
Sequence: FHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKT | ||||||
Repeat | 347-386 | WD 5 | ||||
Sequence: GHTNEVNAIKWDPTGNLLASCSDDMTLKIWSMKQDNCVHD | ||||||
Repeat | 389-437 | WD 6 | ||||
Sequence: AHNKEIYTIKWSPTGPGTNNPNANLMLASASFDSTVRLWDVDRGICIHT | ||||||
Repeat | 440-479 | WD 7 | ||||
Sequence: KHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHS | ||||||
Repeat | 481-513 | WD 8 | ||||
Sequence: RGTGGIFEVCWNAAGDKVGASASDGSVCVLDLR |
Domain
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.
Sequence similarities
Belongs to the WD repeat EBI family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length514
- Mass (Da)55,595
- Last updated2001-06-01 v1
- Checksum0B556D2EE4BA796D
Computationally mapped potential isoform sequences
There are 16 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9IYU9 | C9IYU9_HUMAN | TBL1XR1 | 145 | ||
C9J7E1 | C9J7E1_HUMAN | TBL1XR1 | 120 | ||
C9J903 | C9J903_HUMAN | TBL1XR1 | 96 | ||
C9J3H2 | C9J3H2_HUMAN | TBL1XR1 | 86 | ||
C9JTW8 | C9JTW8_HUMAN | TBL1XR1 | 61 | ||
C9JLJ1 | C9JLJ1_HUMAN | TBL1XR1 | 427 | ||
A0A1B0GUU2 | A0A1B0GUU2_HUMAN | TBL1XR1 | 131 | ||
A0A1B0GVH3 | A0A1B0GVH3_HUMAN | TBL1XR1 | 271 | ||
C9JCK0 | C9JCK0_HUMAN | TBL1XR1 | 73 | ||
C9JCW4 | C9JCW4_HUMAN | TBL1XR1 | 33 | ||
C9JBN1 | C9JBN1_HUMAN | TBL1XR1 | 75 | ||
C9JEC9 | C9JEC9_HUMAN | TBL1XR1 | 81 | ||
A0A0D9SF25 | A0A0D9SF25_HUMAN | TBL1XR1 | 122 | ||
A0A0D9SFI2 | A0A0D9SFI2_HUMAN | TBL1XR1 | 67 | ||
A0A0D9SEW5 | A0A0D9SEW5_HUMAN | TBL1XR1 | 105 | ||
A0A0D9SF63 | A0A0D9SF63_HUMAN | TBL1XR1 | 474 |
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 31 | in Ref. 2; AAG44736 | ||||
Sequence: E → K | ||||||
Sequence conflict | 59 | in Ref. 3; BAB14331 | ||||
Sequence: Y → H | ||||||
Sequence conflict | 389 | in Ref. 2; AAG44736 | ||||
Sequence: A → Q |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF314544 EMBL· GenBank· DDBJ | AAK00301.1 EMBL· GenBank· DDBJ | mRNA | ||
AF268193 EMBL· GenBank· DDBJ | AAG44736.1 EMBL· GenBank· DDBJ | mRNA | ||
AK022956 EMBL· GenBank· DDBJ | BAB14331.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471052 EMBL· GenBank· DDBJ | EAW78438.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC060320 EMBL· GenBank· DDBJ | AAH60320.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
BC113421 EMBL· GenBank· DDBJ | AAI13422.1 EMBL· GenBank· DDBJ | mRNA |