TBR1
entrez
10716
canonical
uniprot
Q16650
canonical
ensembl
ENSG00000136535
resolver
ensp
ENSP00000374205
resolver
genesymbol
TBR1
resolver
hgnc
HGNC:11590
resolver
uniprot
B0AZS4
resolver
uniprot
B2R6G5
resolver
uniprot
Q14DC5
resolver
uniprot
Q53TH0
resolver
uniprot
Q56A81
resolver
uniprot_entry
TBR1_HUMAN
resolver
uniprot_sec
B0AZS4
resolver
uniprot_sec
B2R6G5
resolver
uniprot_sec
Q14DC5
resolver
uniprot_sec
Q53TH0
resolver
uniprot_sec
Q56A81
resolver
amino_acid_sequence
MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMTNQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAADRYLLSQSSQPQSAATAPSAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSLLSNSSPQGYPTAGYPYPQQYGHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWMRQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIVPGARYAMAGSFLQDQFVSNYAKARFHPGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALPLQAAGCTGRPLGYYADPSGWGARSPPQYCGTKSGSVLPCWPNSAAAAARMAGANPYLGEEAEGLAAERSPLPPGAAEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLAQRDCEKNCAKDISGYYGFYSHS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]: An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. {ECO:0000269|PubMed:14593429, ECO:0000269|PubMed:22495311, ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:25232744, ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:25363760, ECO:0000269|PubMed:25418537, ECO:0000269|PubMed:30250039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity). {ECO:0000250|UniProtKB:Q64336, ECO:0000269|PubMed:25232744, ECO:0000269|PubMed:30250039}.
uniprot
proteins
mass_dalton
74053
uniprot
proteins
mutagenesis
MUTAGEN 394..682; /note="Missing: Decreased interaction with BCL11A."; /evidence="ECO:0000269|PubMed:30250039"; MUTAGEN 568..682; /note="Missing: No effect on interaction with BCL11A."; /evidence="ECO:0000269|PubMed:30250039
uniprot
proteins
pubmed
14593429
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
22495311
uniprot
proteins
pubmed
23160955
uniprot
proteins
pubmed
25232744
uniprot
proteins
pubmed
25356899
uniprot
proteins
pubmed
25363760
uniprot
proteins
pubmed
25418537
uniprot
proteins
pubmed
30250039
uniprot
proteins
pubmed
30268909
uniprot
proteins
pubmed
7619531
uniprot
proteins
sequence_length
682
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25232744, ECO:0000269|PubMed:30250039}.
uniprot
proteins