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Entry version 167 (07 Oct 2020)
Sequence version 1 (01 Nov 1997)
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Protein

T-box brain protein 1

Gene

TBR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi213 – 393T-boxPROSITE-ProRule annotationAdd BLAST181

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q16650

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
T-box brain protein 1
Short name:
T-brain-1
Short name:
TBR-1
Alternative name(s):
TES-56
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TBR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136535.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11590, TBR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604616, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16650

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Intellectual developmental disorder with autism and speech delay (IDDAS)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081757178Q → 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_081758228K → 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 Publications1
Natural variantiVAR_081759271W → 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_078646271W → 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_081760356V → 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_081761374N → 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 Publications1
Natural variantiVAR_081762389K → 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_081763418Q → 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_081764542P → 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 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi394 – 682Missing : Decreased interaction with BCL11A. 1 PublicationAdd BLAST289
Mutagenesisi568 – 682Missing : No effect on interaction with BCL11A. 1 PublicationAdd BLAST115

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10716

MalaCards human disease database

More...
MalaCardsi
TBR1
MIMi606053, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136535

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1617, 2q24 microdeletion syndrome
280640, Occipital pachygyria and polymicrogyria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36354

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q16650, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2501122

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001844571 – 682T-box brain protein 1Add BLAST682

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei408PhosphothreonineBy similarity1
Modified residuei410PhosphoserineBy similarity1
Modified residuei594PhosphoserineBy similarity1
Modified residuei641PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16650

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q16650

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q16650

PeptideAtlas

More...
PeptideAtlasi
Q16650

PRoteomics IDEntifications database

More...
PRIDEi
Q16650

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
2534
61001 [Q16650-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16650

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q16650

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136535, Expressed in cortical plate and 46 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q16650, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16650, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000136535, Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
115942, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q16650, 10 interactors

Molecular INTeraction database

More...
MINTi
Q16650

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000374205

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q16650, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q16650

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi569 – 573Poly-Ala5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3585, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156994

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_014430_8_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16650

KEGG Orthology (KO)

More...
KOi
K10174

Identification of Orthologs from Complete Genome Data

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OMAi
QYGHAYQ

Database of Orthologous Groups

More...
OrthoDBi
374561at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16650

TreeFam database of animal gene trees

More...
TreeFami
TF106341

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00182, TBOX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.820, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

The PANTHER Classification System

More...
PANTHERi
PTHR11267, PTHR11267, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00907, T-box, 1 hit
PF16176, T-box_assoc, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00937, TBOX

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00425, TBOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49417, SSF49417, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01283, TBOX_1, 1 hit
PS01264, TBOX_2, 1 hit
PS50252, TBOX_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16650-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:682
Mass (Da):74,053
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE1C8D84206EFBBB5
GO
Isoform 2 (identifier: Q16650-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-287: Missing.

Show »
Length:395
Mass (Da):42,332
Checksum:iD47B8C24A3CD69FA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0B1H7C0B1_HUMAN
T-box brain protein 1
TBR1
232Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti619S → P in BAG35462 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081757178Q → 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_081758228K → 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 Publications1
Natural variantiVAR_081759271W → 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_078646271W → 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_052264289H → Q. Corresponds to variant dbSNP:rs12994035Ensembl.1
Natural variantiVAR_081760356V → 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_081761374N → 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 Publications1
Natural variantiVAR_081762389K → 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_081763418Q → 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_081764542P → 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 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0565911 – 287Missing in isoform 2. 1 PublicationAdd BLAST287

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS33310.1 [Q16650-1]

NCBI Reference Sequences

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RefSeqi
NP_006584.1, NM_006593.3 [Q16650-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000389554; ENSP00000374205; ENSG00000136535 [Q16650-1]
ENST00000410035; ENSP00000387023; ENSG00000136535 [Q16650-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10716

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10716

UCSC genome browser

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UCSCi
uc002ubw.2, human [Q16650-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS33310.1 [Q16650-1]
RefSeqiNP_006584.1, NM_006593.3 [Q16650-1]

3D structure databases

SMRiQ16650
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115942, 12 interactors
IntActiQ16650, 10 interactors
MINTiQ16650
STRINGi9606.ENSP00000374205

PTM databases

iPTMnetiQ16650
PhosphoSitePlusiQ16650

Polymorphism and mutation databases

BioMutaiTBR1
DMDMi2501122

Proteomic databases

jPOSTiQ16650
MassIVEiQ16650
PaxDbiQ16650
PeptideAtlasiQ16650
PRIDEiQ16650
ProteomicsDBi2534
61001 [Q16650-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
35331, 182 antibodies

The DNASU plasmid repository

More...
DNASUi
10716

Genome annotation databases

EnsembliENST00000389554; ENSP00000374205; ENSG00000136535 [Q16650-1]
ENST00000410035; ENSP00000387023; ENSG00000136535 [Q16650-2]
GeneIDi10716
KEGGihsa:10716
UCSCiuc002ubw.2, human [Q16650-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10716
DisGeNETi10716
EuPathDBiHostDB:ENSG00000136535.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TBR1
HGNCiHGNC:11590, TBR1
HPAiENSG00000136535, Tissue enriched (brain)
MalaCardsiTBR1
MIMi604616, gene
606053, phenotype
neXtProtiNX_Q16650
OpenTargetsiENSG00000136535
Orphaneti1617, 2q24 microdeletion syndrome
280640, Occipital pachygyria and polymicrogyria
PharmGKBiPA36354

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3585, Eukaryota
GeneTreeiENSGT00940000156994
HOGENOMiCLU_014430_8_1_1
InParanoidiQ16650
KOiK10174
OMAiQYGHAYQ
OrthoDBi374561at2759
PhylomeDBiQ16650
TreeFamiTF106341

Enzyme and pathway databases

PathwayCommonsiQ16650

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
10716, 3 hits in 891 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TBR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10716
PharosiQ16650, Tbio

Protein Ontology

More...
PROi
PR:Q16650
RNActiQ16650, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136535, Expressed in cortical plate and 46 other tissues
ExpressionAtlasiQ16650, baseline and differential
GenevisibleiQ16650, HS

Family and domain databases

CDDicd00182, TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView 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
PANTHERiPTHR11267, PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907, T-box, 1 hit
PF16176, T-box_assoc, 1 hit
PRINTSiPR00937, TBOX
SMARTiView protein in SMART
SM00425, TBOX, 1 hit
SUPFAMiSSF49417, SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283, TBOX_1, 1 hit
PS01264, TBOX_2, 1 hit
PS50252, TBOX_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTBR1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16650
Secondary accession number(s): B0AZS4
, B2R6G5, Q14DC5, Q53TH0, Q56A81
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 7, 2020
This is version 167 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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