| Type | Description |
|---|---|
| Definition | T-box, brain 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-02 12:59:00 | We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of utism spectrum disorders cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious | 30250039 |
| 2019-02-23 11:10:00 | our study supports the observation that TBR1-related disorders range from intellectual disability to frontal pachygyria. We also highlight the need for first-line, good quality neuroimaging for patients with intellectual disability. | 30268909 |
| 2015-12-19 12:10:00 | TBR1 homodimerizes; it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and this interaction is disrupted by pathogenic mutations affecting either protein | 25232744 |
| 2008-03-13 09:01:00 | Observational study of gene-disease association. (HuGE Navigator) | 11719470 |
| Type | IDs |
|---|---|
| Synonymous | IDDAS, TBR-1, TES-56 |
| Gene |
UniProtKB-ID:
TBR1_HUMAN
UniprotKB:
Q16650
UniParc:
UPI0000136A99,
UPI0000E07B0F
EMBL:
AK315865,
AK312567,
BC104844,
AC009487,
AK316161,
U49250,
AK297438,
BC113418,
BC029289
Ensembl:
ENSG00000136535
KO:
hsa:10716
|
| Nucleutide sequences |
EMBL-CDS:
AAH29289.1,
BAH12582.1,
AAY15017.1,
BAG35462.1,
AAA92010.1,
AAI13419.1,
BAF98756.1,
BAH14532.1,
AAI04845.1
Ensembl_TRS:
ENST00000410035,
ENST00000389554
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000374205,
ENSP00000387023
RefSeq:
NP_006584.1
|
| Others |
UniRef100:
UniRef100_Q16650
UniRef90:
UniRef90_Q16650
UniRef50:
UniRef50_Q16650
UniGene:
Hs.210862
CCDS:
CCDS33310.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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