TBL1Y
entrez
90665
canonical
uniprot
Q9BQ87
canonical
ensembl
ENSG00000092377
resolver
ensp
ENSP00000328879
resolver
ensp
ENSP00000347289
resolver
ensp
ENSP00000372499
resolver
enst
ENST00000346432
resolver
enst
ENST00000355162
resolver
enst
ENST00000383032
resolver
genesymbol
TBL1Y
resolver
genesymbol_syn
TBL1
resolver
hgnc
HGNC:18502
resolver
uniprot
A1L4B3
resolver
uniprot_entry
TBL1Y_HUMAN
resolver
uniprot_sec
A1L4B3
resolver
amino_acid_sequence
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYVEAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEKLTQQQASAAATEASAMAKAATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHKGPIFALKWNKKGNYVLSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFASCSTDMCIHVCRLGCDHPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQDACVHDLQAHSKEIYTIKWSPTGPATSNPNSSIMLASASFDSTVRLWDVEQGVCTHTLMKHQEPVYSVAFSPDGKYLASGSFDKYVHIWNTQSGSLVHSYQGTGGIFEVCWNARGDKVGASASDGSVCVLDL
uniprot
proteins
disease_involvement
DISEASE: Deafness, Y-linked 2 (DFNY2) [MIM:400047]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. {ECO:0000269|PubMed:30341416}. Note=The disease may be 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. 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 (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
56688
uniprot
proteins
protein_family
WD repeat EBI family
uniprot
proteins
pubmed
12815422
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30341416
uniprot
proteins
sequence_length
522
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:30341416}.
uniprot
proteins