UniProtKB - Q16650 (TBR1_HUMAN)
T-box brain protein 1
TBR1
Functioni
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).
By similarity2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 213 – 393 | T-boxPROSITE-ProRule annotationAdd BLAST | 181 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- protein kinase binding Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- amygdala development Source: Ensembl
- brain development Source: ProtInc
- cell fate specification Source: GO_Central
- cerebral cortex development Source: Ensembl
- commitment of neuronal cell to specific neuron type in forebrain Source: GO_Central
- conditioned taste aversion Source: Ensembl
- hindbrain development Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: Ensembl
- regulation of axon guidance Source: Ensembl
- regulation of neuron projection development Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
- specification of animal organ identity Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q16650 |
SignaLinki | Q16650 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box brain protein 1Short name: T-brain-1 Short name: TBR-1 Alternative name(s): TES-56 |
Gene namesi | Name:TBR1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11590, TBR1 |
MIMi | 604616, gene |
neXtProti | NX_Q16650 |
VEuPathDBi | HostDB:ENSG00000136535 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Intellectual developmental disorder with autism and speech delay (IDDAS)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081757 | 178 | Q → E in IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2. 1 PublicationCorresponds to variant dbSNP:rs771354583Ensembl. | 1 | |
Natural variantiVAR_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. 3 Publications | 1 | |
Natural variantiVAR_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. 3 PublicationsCorresponds to variant dbSNP:rs1559060428EnsemblClinVar. | 1 | |
Natural variantiVAR_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. 2 PublicationsCorresponds to variant dbSNP:rs1553510301EnsemblClinVar. | 1 | |
Natural variantiVAR_081760 | 356 | V → M in IDDAS; unknown pathological 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. 3 PublicationsCorresponds to variant dbSNP:rs147026901Ensembl. | 1 | |
Natural variantiVAR_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. 4 Publications | 1 | |
Natural variantiVAR_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. 2 PublicationsCorresponds to variant dbSNP:rs1553510677EnsemblClinVar. | 1 | |
Natural variantiVAR_081763 | 418 | Q → R in IDDAS; unknown pathological 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. 2 PublicationsCorresponds to variant dbSNP:rs1173646549Ensembl. | 1 | |
Natural variantiVAR_081764 | 542 | P → R in IDDAS; unknown pathological 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. 2 Publications | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 394 – 682 | Missing : Decreased interaction with BCL11A. 1 PublicationAdd BLAST | 289 | |
Mutagenesisi | 568 – 682 | Missing : No effect on interaction with BCL11A. 1 PublicationAdd BLAST | 115 |
Keywords - Diseasei
Autism spectrum disorder, Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 10716 |
MalaCardsi | TBR1 |
MIMi | 606053, phenotype |
OpenTargetsi | ENSG00000136535 |
Orphaneti | 1617, 2q24 microdeletion syndrome 280640, Occipital pachygyria and polymicrogyria |
PharmGKBi | PA36354 |
Miscellaneous databases
Pharosi | Q16650, Tbio |
Genetic variation databases
BioMutai | TBR1 |
DMDMi | 2501122 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184457 | 1 – 682 | T-box brain protein 1Add BLAST | 682 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 408 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 410 | PhosphoserineBy similarity | 1 | |
Modified residuei | 594 | PhosphoserineBy similarity | 1 | |
Modified residuei | 641 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q16650 |
MassIVEi | Q16650 |
PaxDbi | Q16650 |
PeptideAtlasi | Q16650 |
PRIDEi | Q16650 |
ProteomicsDBi | 2534 61001 [Q16650-1] |
PTM databases
GlyGeni | Q16650, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q16650 |
PhosphoSitePlusi | Q16650 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136535, Expressed in cortical plate and 48 other tissues |
ExpressionAtlasi | Q16650, baseline and differential |
Genevisiblei | Q16650, HS |
Organism-specific databases
HPAi | ENSG00000136535, Tissue enriched (brain) |
Interactioni
Subunit structurei
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).
By similarity2 PublicationsBinary interactionsi
Q16650
GO - Molecular functioni
- protein kinase binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 115942, 23 interactors |
IntActi | Q16650, 18 interactors |
MINTi | Q16650 |
STRINGi | 9606.ENSP00000374205 |
Miscellaneous databases
RNActi | Q16650, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 43 – 83 | DisorderedSequence analysisAdd BLAST | 41 | |
Regioni | 108 – 127 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 447 – 483 | DisorderedSequence analysisAdd BLAST | 37 | |
Regioni | 588 – 658 | DisorderedSequence analysisAdd BLAST | 71 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 43 – 69 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 612 – 630 | Polar residuesSequence analysisAdd BLAST | 19 |
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000156994 |
HOGENOMi | CLU_014430_8_1_1 |
InParanoidi | Q16650 |
OMAi | QYGHAYQ |
OrthoDBi | 374561at2759 |
PhylomeDBi | Q16650 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR032385, T-box_assoc IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit PF16176, T-box_assoc, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS
60 70 80 90 100
PLKKITRGMT NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS
110 120 130 140 150
AADRYLLSQS SQPQSAATAP SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP
160 170 180 190 200
VITNGAYNSL LSNSSPQGYP TAGYPYPQQY GHSYQGAPFY QFSSTQPGLV
210 220 230 240 250
PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN ISGLDPTAHY
260 270 280 290 300
NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM
310 320 330 340 350
RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT
360 370 380 390 400
SQPGRVQTFT FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT
410 420 430 440 450
GCDMDRLTPS PNDSPRSQIV PGARYAMAGS FLQDQFVSNY AKARFHPGAG
460 470 480 490 500
AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS PQRWFVTPAN NRLDFAASAY
510 520 530 540 550
DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA DPSGWGARSP
560 570 580 590 600
PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA
610 620 630 640 650
AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES
660 670 680
SSPLKSEVLA QRDCEKNCAK DISGYYGFYS HS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C0B1 | H7C0B1_HUMAN | T-box brain protein 1 | TBR1 | 232 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 619 | S → P in BAG35462 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081757 | 178 | Q → E in IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2. 1 PublicationCorresponds to variant dbSNP:rs771354583Ensembl. | 1 | |
Natural variantiVAR_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. 3 Publications | 1 | |
Natural variantiVAR_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. 3 PublicationsCorresponds to variant dbSNP:rs1559060428EnsemblClinVar. | 1 | |
Natural variantiVAR_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. 2 PublicationsCorresponds to variant dbSNP:rs1553510301EnsemblClinVar. | 1 | |
Natural variantiVAR_052264 | 289 | H → Q. Corresponds to variant dbSNP:rs12994035Ensembl. | 1 | |
Natural variantiVAR_081760 | 356 | V → M in IDDAS; unknown pathological 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. 3 PublicationsCorresponds to variant dbSNP:rs147026901Ensembl. | 1 | |
Natural variantiVAR_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. 4 Publications | 1 | |
Natural variantiVAR_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. 2 PublicationsCorresponds to variant dbSNP:rs1553510677EnsemblClinVar. | 1 | |
Natural variantiVAR_081763 | 418 | Q → R in IDDAS; unknown pathological 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. 2 PublicationsCorresponds to variant dbSNP:rs1173646549Ensembl. | 1 | |
Natural variantiVAR_081764 | 542 | P → R in IDDAS; unknown pathological 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. 2 Publications | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056591 | 1 – 287 | Missing in isoform 2. 1 PublicationAdd BLAST | 287 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U49250 mRNA Translation: AAA92010.1 AK297438 mRNA Translation: BAH12582.1 AK312567 mRNA Translation: BAG35462.1 AK315865 mRNA Translation: BAF98756.1 AK316161 mRNA Translation: BAH14532.1 AC009487 Genomic DNA Translation: AAY15017.1 BC029289 mRNA Translation: AAH29289.1 BC104844 mRNA Translation: AAI04845.1 BC113418 mRNA Translation: AAI13419.1 |
CCDSi | CCDS33310.1 [Q16650-1] |
RefSeqi | NP_006584.1, NM_006593.3 [Q16650-1] |
Genome annotation databases
Ensembli | ENST00000389554; ENSP00000374205; ENSG00000136535 ENST00000410035; ENSP00000387023; ENSG00000136535 [Q16650-2] |
GeneIDi | 10716 |
KEGGi | hsa:10716 |
MANE-Selecti | ENST00000389554.8; ENSP00000374205.3; NM_006593.4; NP_006584.1 |
UCSCi | uc002ubw.2, human [Q16650-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U49250 mRNA Translation: AAA92010.1 AK297438 mRNA Translation: BAH12582.1 AK312567 mRNA Translation: BAG35462.1 AK315865 mRNA Translation: BAF98756.1 AK316161 mRNA Translation: BAH14532.1 AC009487 Genomic DNA Translation: AAY15017.1 BC029289 mRNA Translation: AAH29289.1 BC104844 mRNA Translation: AAI04845.1 BC113418 mRNA Translation: AAI13419.1 |
CCDSi | CCDS33310.1 [Q16650-1] |
RefSeqi | NP_006584.1, NM_006593.3 [Q16650-1] |
3D structure databases
SMRi | Q16650 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115942, 23 interactors |
IntActi | Q16650, 18 interactors |
MINTi | Q16650 |
STRINGi | 9606.ENSP00000374205 |
PTM databases
GlyGeni | Q16650, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q16650 |
PhosphoSitePlusi | Q16650 |
Genetic variation databases
BioMutai | TBR1 |
DMDMi | 2501122 |
Proteomic databases
jPOSTi | Q16650 |
MassIVEi | Q16650 |
PaxDbi | Q16650 |
PeptideAtlasi | Q16650 |
PRIDEi | Q16650 |
ProteomicsDBi | 2534 61001 [Q16650-1] |
Protocols and materials databases
Antibodypediai | 35331, 194 antibodies from 32 providers |
DNASUi | 10716 |
Genome annotation databases
Ensembli | ENST00000389554; ENSP00000374205; ENSG00000136535 ENST00000410035; ENSP00000387023; ENSG00000136535 [Q16650-2] |
GeneIDi | 10716 |
KEGGi | hsa:10716 |
MANE-Selecti | ENST00000389554.8; ENSP00000374205.3; NM_006593.4; NP_006584.1 |
UCSCi | uc002ubw.2, human [Q16650-1] |
Organism-specific databases
CTDi | 10716 |
DisGeNETi | 10716 |
GeneCardsi | TBR1 |
HGNCi | HGNC:11590, TBR1 |
HPAi | ENSG00000136535, Tissue enriched (brain) |
MalaCardsi | TBR1 |
MIMi | 604616, gene 606053, phenotype |
neXtProti | NX_Q16650 |
OpenTargetsi | ENSG00000136535 |
Orphaneti | 1617, 2q24 microdeletion syndrome 280640, Occipital pachygyria and polymicrogyria |
PharmGKBi | PA36354 |
VEuPathDBi | HostDB:ENSG00000136535 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000156994 |
HOGENOMi | CLU_014430_8_1_1 |
InParanoidi | Q16650 |
OMAi | QYGHAYQ |
OrthoDBi | 374561at2759 |
PhylomeDBi | Q16650 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | Q16650 |
SignaLinki | Q16650 |
Miscellaneous databases
BioGRID-ORCSi | 10716, 3 hits in 1053 CRISPR screens |
GeneWikii | TBR1 |
GenomeRNAii | 10716 |
Pharosi | Q16650, Tbio |
PROi | PR:Q16650 |
RNActi | Q16650, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136535, Expressed in cortical plate and 48 other tissues |
ExpressionAtlasi | Q16650, baseline and differential |
Genevisiblei | Q16650, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR032385, T-box_assoc IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit PF16176, T-box_assoc, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBR1_HUMAN | |
Accessioni | Q16650Primary (citable) accession number: Q16650 Secondary accession number(s): B0AZS4 Q56A81 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | February 23, 2022 | |
This is version 173 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot