TBL1XR1
entrez
79718
canonical
uniprot
Q9BZK7
canonical
ensembl
ENSG00000177565
resolver
ensp
ENSP00000263964
resolver
ensp
ENSP00000387849
resolver
ensp
ENSP00000398477
resolver
ensp
ENSP00000402402
resolver
ensp
ENSP00000405574
resolver
ensp
ENSP00000413251
resolver
ensp
ENSP00000501274
resolver
ensp
ENSP00000515885
resolver
ensp
ENSP00000515886
resolver
ensp
ENSP00000515887
resolver
ensp
ENSP00000553519
resolver
ensp
ENSP00000553520
resolver
ensp
ENSP00000553521
resolver
ensp
ENSP00000553522
resolver
ensp
ENSP00000553523
resolver
ensp
ENSP00000553524
resolver
ensp
ENSP00000553525
resolver
ensp
ENSP00000553526
resolver
ensp
ENSP00000553527
resolver
ensp
ENSP00000553528
resolver
ensp
ENSP00000553529
resolver
ensp
ENSP00000553530
resolver
ensp
ENSP00000553531
resolver
ensp
ENSP00000553532
resolver
ensp
ENSP00000553533
resolver
ensp
ENSP00000553534
resolver
ensp
ENSP00000553535
resolver
ensp
ENSP00000553536
resolver
ensp
ENSP00000553537
resolver
ensp
ENSP00000553539
resolver
ensp
ENSP00000553540
resolver
ensp
ENSP00000553541
resolver
ensp
ENSP00000553542
resolver
ensp
ENSP00000553543
resolver
ensp
ENSP00000595165
resolver
ensp
ENSP00000595166
resolver
ensp
ENSP00000595167
resolver
ensp
ENSP00000595168
resolver
ensp
ENSP00000595169
resolver
ensp
ENSP00000595170
resolver
ensp
ENSP00000595171
resolver
ensp
ENSP00000641564
resolver
ensp
ENSP00000641565
resolver
ensp
ENSP00000641566
resolver
ensp
ENSP00000641567
resolver
ensp
ENSP00000641569
resolver
ensp
ENSP00000641570
resolver
ensp
ENSP00000641571
resolver
ensp
ENSP00000641572
resolver
ensp
ENSP00000641573
resolver
ensp
ENSP00000641574
resolver
ensp
ENSP00000641575
resolver
enst
ENST00000352800
resolver
enst
ENST00000422066
resolver
enst
ENST00000422442
resolver
enst
ENST00000430069
resolver
enst
ENST00000431421
resolver
enst
ENST00000457928
resolver
enst
ENST00000673974
resolver
enst
ENST00000704383
resolver
enst
ENST00000704384
resolver
enst
ENST00000704385
resolver
enst
ENST00000883460
resolver
enst
ENST00000883461
resolver
enst
ENST00000883462
resolver
enst
ENST00000883463
resolver
enst
ENST00000883464
resolver
enst
ENST00000883465
resolver
enst
ENST00000883466
resolver
enst
ENST00000883467
resolver
enst
ENST00000883468
resolver
enst
ENST00000883469
resolver
enst
ENST00000883470
resolver
enst
ENST00000883471
resolver
enst
ENST00000883472
resolver
enst
ENST00000883473
resolver
enst
ENST00000883474
resolver
enst
ENST00000883475
resolver
enst
ENST00000883476
resolver
enst
ENST00000883477
resolver
enst
ENST00000883478
resolver
enst
ENST00000883480
resolver
enst
ENST00000883481
resolver
enst
ENST00000883482
resolver
enst
ENST00000883483
resolver
enst
ENST00000883484
resolver
enst
ENST00000925106
resolver
enst
ENST00000925107
resolver
enst
ENST00000925108
resolver
enst
ENST00000925109
resolver
enst
ENST00000925110
resolver
enst
ENST00000925111
resolver
enst
ENST00000925112
resolver
enst
ENST00000971505
resolver
enst
ENST00000971506
resolver
enst
ENST00000971507
resolver
enst
ENST00000971508
resolver
enst
ENST00000971510
resolver
enst
ENST00000971511
resolver
enst
ENST00000971512
resolver
enst
ENST00000971513
resolver
enst
ENST00000971514
resolver
enst
ENST00000971515
resolver
enst
ENST00000971516
resolver
genesymbol
TBL1XR1
resolver
genesymbol_syn
IRA1
resolver
genesymbol_syn
TBLR1
resolver
hgnc
HGNC:29529
resolver
uniprot
C9JLJ1
resolver
uniprot
D3DNQ9
resolver
uniprot
Q14DC3
resolver
uniprot
Q9H2I1
resolver
uniprot
Q9H9A1
resolver
uniprot_entry
C9JLJ1_HUMAN
resolver
uniprot_entry
TBL1R_HUMAN
resolver
uniprot_sec
D3DNQ9
resolver
uniprot_sec
Q14DC3
resolver
uniprot_sec
Q9H2I1
resolver
uniprot_sec
Q9H9A1
resolver
amino_acid_sequence
MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYVEAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPTGNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASFDSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSYRGTGGIFEVCWNAAGDKVGASASDGSVCVLDLRK
uniprot
proteins
disease_involvement
DISEASE: Pierpont syndrome (PRPTS) [MIM:602342]: An 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. {ECO:0000269|PubMed:26769062}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal dominant 41 (MRD41) [MIM:616944]: 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. {ECO:0000269|PubMed:22495309, ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:25102098, ECO:0000269|PubMed:27133561}. 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. 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. {ECO:0000269|PubMed:14980219}.
uniprot
proteins
mass_dalton
55595
uniprot
proteins
protein_family
WD repeat EBI family
uniprot
proteins
pubmed
11063877
uniprot
proteins
pubmed
11931768
uniprot
proteins
pubmed
12628926
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14980219
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22495309
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23160955
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25102098
uniprot
proteins
pubmed
26769062
uniprot
proteins
pubmed
27133561
uniprot
proteins
pubmed
27221108
uniprot
proteins
pubmed
27880911
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
514
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins