O60907 · TBL1X_HUMAN
- ProteinF-box-like/WD repeat-containing protein TBL1X
- GeneTBL1X
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids577 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
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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Aspect | Term | |
---|---|---|
Cellular Component | histone deacetylase complex | |
Cellular Component | mitotic spindle | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Cellular Component | transcription repressor complex | |
Molecular Function | histone binding | |
Molecular Function | identical protein binding | |
Molecular Function | transcription cis-regulatory region binding | |
Molecular Function | transcription corepressor activity | |
Biological Process | negative regulation of transcription by RNA polymerase II | |
Biological Process | positive regulation of canonical Wnt signaling pathway | |
Biological Process | positive regulation of DNA-templated transcription | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | proteasome-mediated ubiquitin-dependent protein catabolic process | |
Biological Process | protein stabilization | |
Biological Process | proteolysis | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | sensory perception of sound |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameF-box-like/WD repeat-containing protein TBL1X
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO60907
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Hypothyroidism, congenital, non-goitrous, 8 (CHNG8)
- Note
- DescriptionA form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.
- See alsoMIM:301033
Natural variants in CHNG8
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083285 | 339-577 | missing | in CHNG8 | |
VAR_083286 | 416 | N>Y | in CHNG8; uncertain significance; decreased protein expression | |
VAR_083287 | 417 | A>T | in CHNG8; uncertain significance; no effect on protein expression | |
VAR_083288 | 420 | W>R | in CHNG8; uncertain significance | |
VAR_083289 | 504 | H>Y | in CHNG8; uncertain significance; decreased protein expression | |
VAR_083290 | 509 | Y>C | in CHNG8; uncertain significance; no effect on protein expression |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 77 | Abolished homotetramerization, leading to a homodimer. | ||||
Sequence: F → A | ||||||
Mutagenesis | 90 | Reduced interaction with NCOR2 and GPS2. | ||||
Sequence: I → A | ||||||
Mutagenesis | 94 | Does not affect interaction with NCOR2 and GPS2. | ||||
Sequence: L → A or E | ||||||
Mutagenesis | 96 | Does not affect interaction with NCOR2 and GPS2. | ||||
Sequence: P → G | ||||||
Mutagenesis | 108 | Reduced interaction with NCOR2 and GPS2. | ||||
Sequence: L → A or Q | ||||||
Mutagenesis | 111 | Reduced interaction with NCOR2 and GPS2. Abolished ability to repress transcription. | ||||
Sequence: V → N or Q | ||||||
Mutagenesis | 117 | Does not affect interaction with NCOR2 and GPS2. | ||||
Sequence: I → A | ||||||
Natural variant | VAR_083285 | 339-577 | in CHNG8 | |||
Sequence: Missing | ||||||
Natural variant | VAR_083286 | 416 | in CHNG8; uncertain significance; decreased protein expression | |||
Sequence: N → Y | ||||||
Natural variant | VAR_083287 | 417 | in CHNG8; uncertain significance; no effect on protein expression | |||
Sequence: A → T | ||||||
Natural variant | VAR_083288 | 420 | in CHNG8; uncertain significance | |||
Sequence: W → R | ||||||
Natural variant | VAR_083289 | 504 | in CHNG8; uncertain significance; decreased protein expression | |||
Sequence: H → Y | ||||||
Natural variant | VAR_083290 | 509 | in CHNG8; uncertain significance; no effect on protein expression | |||
Sequence: Y → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 491 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 chain, modified residue (large scale data), modified residue, cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000051263 | 1-577 | UniProt | F-box-like/WD repeat-containing protein TBL1X | |||
Sequence: MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK | |||||||
Modified residue (large scale data) | 45 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 153 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 183 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 340 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
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; recruits TBL1X to the heterochromatin foci (By similarity).
Interacts with USP44 (PubMed:27880911).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O60907 | ARL3 P36405 | 3 | EBI-3505105, EBI-712710 | |
BINARY | O60907 | TINF2 Q9BSI4 | 2 | EBI-3505105, EBI-717399 | |
BINARY | O60907-2 | DNAJB1 P25685 | 3 | EBI-15904933, EBI-357034 | |
BINARY | O60907-2 | GPS2 Q13227 | 6 | EBI-15904933, EBI-713355 | |
BINARY | O60907-2 | KLF11 O14901 | 3 | EBI-15904933, EBI-948266 | |
BINARY | O60907-2 | NCOR2 Q9Y618 | 7 | EBI-15904933, EBI-80830 | |
BINARY | O60907-2 | TBL1X O60907-2 | 2 | EBI-15904933, EBI-15904933 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, compositional bias, region, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 55-87 | LisH | ||||
Sequence: TSDEVNFLVYRYLQESGFSHSAFTFGIESHISQ | ||||||
Domain | 92-137 | F-box-like | ||||
Sequence: GTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDA | ||||||
Compositional bias | 177-193 | Polar residues | ||||
Sequence: TTSAGVSHQNPSKNREA | ||||||
Region | 177-202 | Disordered | ||||
Sequence: TTSAGVSHQNPSKNREATVNGEENRA | ||||||
Repeat | 230-269 | WD 1 | ||||
Sequence: GHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGS | ||||||
Repeat | 286-325 | WD 2 | ||||
Sequence: PSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTL | ||||||
Repeat | 327-366 | WD 3 | ||||
Sequence: QHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQ | ||||||
Repeat | 369-409 | WD 4 | ||||
Sequence: FHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQ | ||||||
Repeat | 410-449 | WD 5 | ||||
Sequence: GHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHD | ||||||
Repeat | 452-500 | WD 6 | ||||
Sequence: AHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHT | ||||||
Repeat | 503-542 | WD 7 | ||||
Sequence: KHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHS | ||||||
Repeat | 544-576 | WD 8 | ||||
Sequence: RGTGGIFEVCWNARGDKVGASASDGSVCVLDLR |
Domain
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
O60907-1
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.
- Name1
- Length577
- Mass (Da)62,496
- Last updated2009-04-14 v3
- ChecksumD830A37781E2A15C
O60907-2
- Name2
- Differences from canonical
- 1-51: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9J5F9 | C9J5F9_HUMAN | TBL1X | 79 | ||
A0A2R8Y757 | A0A2R8Y757_HUMAN | TBL1X | 112 | ||
A0A2R8YFW3 | A0A2R8YFW3_HUMAN | TBL1X | 526 | ||
C9JCW3 | C9JCW3_HUMAN | TBL1X | 44 | ||
A0A804HJZ5 | A0A804HJZ5_HUMAN | TBL1X | 439 |
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_036905 | 1-51 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 177-193 | Polar residues | ||||
Sequence: TTSAGVSHQNPSKNREA | ||||||
Sequence conflict | 316 | in Ref. 2; BAF82098 | ||||
Sequence: T → A | ||||||
Sequence conflict | 390 | in Ref. 2; BAF83651 | ||||
Sequence: T → A |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y12781 EMBL· GenBank· DDBJ | CAA73319.1 EMBL· GenBank· DDBJ | mRNA | ||
AK289409 EMBL· GenBank· DDBJ | BAF82098.1 EMBL· GenBank· DDBJ | mRNA | ||
AK290962 EMBL· GenBank· DDBJ | BAF83651.1 EMBL· GenBank· DDBJ | mRNA | ||
AC003036 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC032708 EMBL· GenBank· DDBJ | AAH32708.1 EMBL· GenBank· DDBJ | mRNA | ||
BC052304 EMBL· GenBank· DDBJ | AAH52304.1 EMBL· GenBank· DDBJ | mRNA |