Q16650 · TBR1_HUMAN
- ProteinT-box brain protein 1
- GeneTBR1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids682 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
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).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 213-393 | T-box | ||||
Sequence: LWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWMRQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNTDITQLKIDHNPFAKGFRD |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameT-box brain protein 1
- Short namesT-brain-1; TBR-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ16650
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Intellectual developmental disorder with autism and speech delay (IDDAS)
- Note
- DescriptionAn autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.
- See alsoMIM:606053
Natural variants in IDDAS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081757 | 178 | Q>E | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; dbSNP:rs771354583 | |
VAR_081758 | 228 | K>E | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1553510219 | |
VAR_081759 | 271 | W>C | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A; dbSNP:rs1559060428 | |
VAR_078646 | 271 | W>R | in IDDAS; de novo variant; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1553510301 | |
VAR_081760 | 356 | V>M | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs147026901 | |
VAR_081761 | 374 | N>H | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1684182454 | |
VAR_081762 | 389 | K>E | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A; dbSNP:rs1553510677 | |
VAR_081763 | 418 | Q>R | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; decreased interaction with FOXP2; loss of interaction with BCL11A; dbSNP:rs1173646549 | |
VAR_081764 | 542 | P>R | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1684275472 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_081757 | 178 | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; dbSNP:rs771354583 | |||
Sequence: Q → E | ||||||
Natural variant | VAR_081758 | 228 | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1553510219 | |||
Sequence: K → E | ||||||
Natural variant | VAR_081759 | 271 | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A; dbSNP:rs1559060428 | |||
Sequence: W → C | ||||||
Natural variant | VAR_078646 | 271 | in IDDAS; de novo variant; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1553510301 | |||
Sequence: W → R | ||||||
Natural variant | VAR_052264 | 289 | in dbSNP:rs12994035 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_081760 | 356 | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs147026901 | |||
Sequence: V → M | ||||||
Natural variant | VAR_081761 | 374 | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1684182454 | |||
Sequence: N → H | ||||||
Natural variant | VAR_081762 | 389 | in IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A; dbSNP:rs1553510677 | |||
Sequence: K → E | ||||||
Mutagenesis | 394-682 | Decreased interaction with BCL11A. | ||||
Sequence: Missing | ||||||
Natural variant | VAR_081763 | 418 | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; decreased interaction with FOXP2; loss of interaction with BCL11A; dbSNP:rs1173646549 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_081764 | 542 | in IDDAS; uncertain significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A; dbSNP:rs1684275472 | |||
Sequence: P → R | ||||||
Mutagenesis | 568-682 | No effect on interaction with BCL11A. | ||||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 684 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000184457 | 1-682 | T-box brain protein 1 | |||
Sequence: MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMTNQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAADRYLLSQSSQPQSAATAPSAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSLLSNSSPQGYPTAGYPYPQQYGHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWMRQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIVPGARYAMAGSFLQDQFVSNYAKARFHPGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALPLQAAGCTGRPLGYYADPSGWGARSPPQYCGTKSGSVLPCWPNSAAAAARMAGANPYLGEEAEGLAAERSPLPPGAAEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLAQRDCEKNCAKDISGYYGFYSHS | ||||||
Modified residue | 408 | Phosphothreonine | ||||
Sequence: T | ||||||
Modified residue | 410 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 594 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 641 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Homodimer (PubMed:25232744).
Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity (By similarity).
Interacts with FOXP2 (PubMed:25232744, PubMed:30250039).
Interacts with FOXP1 (PubMed:30250039).
Interacts with BCL11A (PubMed:30250039).
Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity (By similarity).
Interacts with FOXP2 (PubMed:25232744, PubMed:30250039).
Interacts with FOXP1 (PubMed:30250039).
Interacts with BCL11A (PubMed:30250039).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q16650 | APP P05067 | 3 | EBI-1047158, EBI-77613 | |
BINARY | Q16650 | APP P05067-2 | 3 | EBI-1047158, EBI-17264467 | |
BINARY | Q16650 | ATXN1 P54253 | 7 | EBI-1047158, EBI-930964 | |
BINARY | Q16650 | HTT P42858 | 12 | EBI-1047158, EBI-466029 | |
BINARY | Q16650 | PRKN O60260-5 | 6 | EBI-1047158, EBI-21251460 | |
BINARY | Q16650 | SNCA P37840 | 3 | EBI-1047158, EBI-985879 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 43-69 | Polar residues | ||||
Sequence: TDNLERSSPLKKITRGMTNQSDTDNFP | ||||||
Region | 43-83 | Disordered | ||||
Sequence: TDNLERSSPLKKITRGMTNQSDTDNFPDSKDSPGDVQRSKL | ||||||
Region | 108-127 | Disordered | ||||
Sequence: SQSSQPQSAATAPSAMFPYP | ||||||
Region | 447-483 | Disordered | ||||
Sequence: PGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQR | ||||||
Region | 588-658 | Disordered | ||||
Sequence: GLAAERSPLPPGAAEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEV | ||||||
Compositional bias | 612-630 | Polar residues | ||||
Sequence: SSWIETPSSIKSIDSSDSG |
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q16650-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length682
- Mass (Da)74,053
- Last updated1997-11-01 v1
- ChecksumE1C8D84206EFBBB5
Q16650-2
- Name2
- Differences from canonical
- 1-287: Missing
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H7C0B1 | H7C0B1_HUMAN | TBR1 | 232 |
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_056591 | 1-287 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 43-69 | Polar residues | ||||
Sequence: TDNLERSSPLKKITRGMTNQSDTDNFP | ||||||
Compositional bias | 612-630 | Polar residues | ||||
Sequence: SSWIETPSSIKSIDSSDSG | ||||||
Sequence conflict | 619 | in Ref. 2; BAG35462 | ||||
Sequence: S → P |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U49250 EMBL· GenBank· DDBJ | AAA92010.1 EMBL· GenBank· DDBJ | mRNA | ||
AK297438 EMBL· GenBank· DDBJ | BAH12582.1 EMBL· GenBank· DDBJ | mRNA | ||
AK312567 EMBL· GenBank· DDBJ | BAG35462.1 EMBL· GenBank· DDBJ | mRNA | ||
AK315865 EMBL· GenBank· DDBJ | BAF98756.1 EMBL· GenBank· DDBJ | mRNA | ||
AK316161 EMBL· GenBank· DDBJ | BAH14532.1 EMBL· GenBank· DDBJ | mRNA | ||
AC009487 EMBL· GenBank· DDBJ | AAY15017.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC029289 EMBL· GenBank· DDBJ | AAH29289.1 EMBL· GenBank· DDBJ | mRNA | ||
BC104844 EMBL· GenBank· DDBJ | AAI04845.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113418 EMBL· GenBank· DDBJ | AAI13419.1 EMBL· GenBank· DDBJ | mRNA |