TBL1X
entrez
6907
canonical
uniprot
O60907
canonical
ensembl
ENSG00000101849
resolver
ensp
ENSP00000370348
resolver
ensp
ENSP00000385988
resolver
ensp
ENSP00000394097
resolver
ensp
ENSP00000496215
resolver
genesymbol
TBL1X
resolver
genesymbol_syn
TBL1
resolver
hgnc
HGNC:11585
resolver
uniprot
A8K044
resolver
uniprot
A8K4J7
resolver
uniprot
Q86UY2
resolver
uniprot_entry
TBL1X_HUMAN
resolver
uniprot_sec
A8K044
resolver
uniprot_sec
A8K4J7
resolver
uniprot_sec
Q86UY2
resolver
amino_acid_sequence
MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK
uniprot
proteins
disease_involvement
DISEASE: Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033]: A 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. {ECO:0000269|PubMed:27603907, ECO:0000269|PubMed:30591955}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). 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). {ECO:0000269|PubMed:14980219, ECO:0000269|PubMed:21240272}.
uniprot
proteins
mass_dalton
62496
uniprot
proteins
mutagenesis
MUTAGEN 77; /note="F->A: Abolished homotetramerization, leading to a homodimer."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 90; /note="I->A: Reduced interaction with NCOR2 and GPS2."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 94; /note="L->A,E: Does not affect interaction with NCOR2 and GPS2."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 96; /note="P->G: Does not affect interaction with NCOR2 and GPS2."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 108; /note="L->A,Q: Reduced interaction with NCOR2 and GPS2."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 111; /note="V->N,Q: Reduced interaction with NCOR2 and GPS2. Abolished ability to repress transcription."; /evidence="ECO:0000269|PubMed:21240272"; MUTAGEN 117; /note="I->A: Does not affect interaction with NCOR2 and GPS2."; /evidence="ECO:0000269|PubMed:21240272
uniprot
proteins
protein_family
WD repeat EBI family
uniprot
proteins
pubmed
10330347
uniprot
proteins
pubmed
10809664
uniprot
proteins
pubmed
10944117
uniprot
proteins
pubmed
11389839
uniprot
proteins
pubmed
11931768
uniprot
proteins
pubmed
12628926
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14980219
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21240272
uniprot
proteins
pubmed
24943844
uniprot
proteins
pubmed
27603907
uniprot
proteins
pubmed
27880911
uniprot
proteins
pubmed
30591955
uniprot
proteins
sequence_length
577
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Colocalized with MECP2 to the heterochromatin foci. {ECO:0000250|UniProtKB:Q9QXE7}.
uniprot
proteins