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Entry version 166 (08 May 2019)
Sequence version 1 (01 Jun 1998)
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Protein

T-box transcription factor TBX1

Gene

TBX1

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

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi119 – 297T-boxPROSITE-ProRule annotationAdd BLAST179

<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 functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O43435

<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_and_taxonomy_section">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 transcription factor TBX1
Short name:
T-box protein 1
Alternative name(s):
Testis-specific T-box protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TBX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11592 TBX1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602054 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43435

<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

Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.
DiGeorge syndrome (DGS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.
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_034545310G → S in DGS. 1 PublicationCorresponds to variant dbSNP:rs41298838EnsemblClinVar.1
Velocardiofacial syndrome (VCFS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035025148F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar.1
Natural variantiVAR_035026194H → Q in VCFS. 1 PublicationCorresponds to variant dbSNP:rs74315522EnsemblClinVar.1
Conotruncal heart malformations (CTHM)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035025148F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6899

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TBX1

MalaCards human disease database

More...
MalaCardsi
TBX1
MIMi188400 phenotype
192430 phenotype
217095 phenotype

Open Targets

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OpenTargetsi
ENSG00000184058

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

More...
Orphaneti
567 22q11.2 deletion syndrome
1727 22q11.2 microduplication syndrome
3303 Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36355

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBX1

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001844231 – 398T-box transcription factor TBX1Add BLAST398

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43435

MaxQB - The MaxQuant DataBase

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MaxQBi
O43435

PeptideAtlas

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PeptideAtlasi
O43435

PRoteomics IDEntifications database

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PRIDEi
O43435

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48946
48947 [O43435-2]
48948 [O43435-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43435

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

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PhosphoSitePlusi
O43435

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000184058 Expressed in 184 organ(s), highest expression level in vastus lateralis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43435 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43435 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029330

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DSCR6.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112762, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000331791

<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

Secondary structure

1398
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
O43435

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 biasi43 – 48Poly-Pro6
Compositional biasi54 – 57Poly-Ala4
Compositional biasi61 – 67Poly-Pro7
Compositional biasi94 – 99Poly-Ala6

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00940000154816

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000286000

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43435

KEGG Orthology (KO)

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KOi
K10175

Identification of Orthologs from Complete Genome Data

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OMAi
HPYKYPT

Database of Orthologous Groups

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OrthoDBi
1556447at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43435

TreeFam database of animal gene trees

More...
TreeFami
TF106341

Family and domain databases

Conserved Domains Database

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CDDi
cd00182 TBOX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.820, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS

The PANTHER Classification System

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PANTHERi
PTHR11267 PTHR11267, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00907 T-box, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00937 TBOX

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00425 TBOX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49417 SSF49417, 1 hit

PROSITE; a protein domain and family database

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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_length">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform A (identifier: O43435-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY
60 70 80 90 100
DPCAAAAPGA PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP
110 120 130 140 150
VKKNAKVAGV SVQLEMKALW DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM
160 170 180 190 200
DPMADYMLLM DFVPVDDKRY RYAFHSSSWL VAGKADPATP GRVHYHPDSP
210 220 230 240 250
AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR FHVVYVDPRK
260 270 280 290 300
DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP
310 320 330 340 350
EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET
360 370 380 390
SRNTPEREVE LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC
Length:398
Mass (Da):43,133
Last modified:June 1, 1998 - 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:iFAF0F3FA0CDC6176
GO
Isoform B (identifier: O43435-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-398: GHVLKDKEVK...AGRTAGDRLC → LVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT

Show »
Length:372
Mass (Da):40,353
Checksum:iDC6B41E913C8BB25
GO
Isoform C (identifier: O43435-3) [UniParc]FASTAAdd to basket
Also known as: TBX1C

The sequence of this isoform differs from the canonical sequence as follows:
     337-398: GGHVLKDKEV...AGRTAGDRLC → DAAEARREFQ...PPGSYDYCPR

Show »
Length:495
Mass (Da):52,666
Checksum:iFB0C150FEA6155FC
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
A0A3B3IS18A0A3B3IS18_HUMAN
T-box transcription factor TBX1
TBX1
504Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035025148F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar.1
Natural variantiVAR_035026194H → Q in VCFS. 1 PublicationCorresponds to variant dbSNP:rs74315522EnsemblClinVar.1
Natural variantiVAR_034545310G → S in DGS. 1 PublicationCorresponds to variant dbSNP:rs41298838EnsemblClinVar.1
Natural variantiVAR_036065337G → E in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_024657350T → M. Corresponds to variant dbSNP:rs4819522EnsemblClinVar.1

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_007423337 – 398GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_006383338 – 398GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF012130 mRNA Translation: AAB94018.1
AF012131 mRNA Translation: AAB94019.1
AF373867 mRNA Translation: AAK58955.1
FJ515849 Genomic DNA Translation: ACS13741.1
FJ515849 Genomic DNA Translation: ACS13742.1
CH471176 Genomic DNA Translation: EAX03024.1
CH471176 Genomic DNA Translation: EAX03025.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13765.1 [O43435-2]
CCDS13766.1 [O43435-1]
CCDS13767.1 [O43435-3]

NCBI Reference Sequences

More...
RefSeqi
NP_005983.1, NM_005992.1 [O43435-2]
NP_542377.1, NM_080646.1 [O43435-1]
NP_542378.1, NM_080647.1 [O43435-3]
XP_006724375.1, XM_006724312.2 [O43435-3]
XP_016884415.1, XM_017028926.1 [O43435-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1]
ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3]
ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6899

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6899

UCSC genome browser

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UCSCi
uc002zqa.2 human [O43435-1]

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
AF012130 mRNA Translation: AAB94018.1
AF012131 mRNA Translation: AAB94019.1
AF373867 mRNA Translation: AAK58955.1
FJ515849 Genomic DNA Translation: ACS13741.1
FJ515849 Genomic DNA Translation: ACS13742.1
CH471176 Genomic DNA Translation: EAX03024.1
CH471176 Genomic DNA Translation: EAX03025.1
CCDSiCCDS13765.1 [O43435-2]
CCDS13766.1 [O43435-1]
CCDS13767.1 [O43435-3]
RefSeqiNP_005983.1, NM_005992.1 [O43435-2]
NP_542377.1, NM_080646.1 [O43435-1]
NP_542378.1, NM_080647.1 [O43435-3]
XP_006724375.1, XM_006724312.2 [O43435-3]
XP_016884415.1, XM_017028926.1 [O43435-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4A04X-ray2.58A/B109-297[»]
SMRiO43435
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112762, 4 interactors
STRINGi9606.ENSP00000331791

PTM databases

iPTMnetiO43435
PhosphoSitePlusiO43435

Polymorphism and mutation databases

BioMutaiTBX1

Proteomic databases

jPOSTiO43435
MaxQBiO43435
PeptideAtlasiO43435
PRIDEiO43435
ProteomicsDBi48946
48947 [O43435-2]
48948 [O43435-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1]
ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3]
ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2]
GeneIDi6899
KEGGihsa:6899
UCSCiuc002zqa.2 human [O43435-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6899
DisGeNETi6899

GeneCards: human genes, protein and diseases

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GeneCardsi
TBX1
GeneReviewsiTBX1
HGNCiHGNC:11592 TBX1
HPAiHPA029330
MalaCardsiTBX1
MIMi188400 phenotype
192430 phenotype
217095 phenotype
602054 gene
neXtProtiNX_O43435
OpenTargetsiENSG00000184058
Orphaneti567 22q11.2 deletion syndrome
1727 22q11.2 microduplication syndrome
3303 Tetralogy of Fallot
PharmGKBiPA36355

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000154816
HOGENOMiHOG000286000
InParanoidiO43435
KOiK10175
OMAiHPYKYPT
OrthoDBi1556447at2759
PhylomeDBiO43435
TreeFamiTF106341

Enzyme and pathway databases

SIGNORiO43435

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TBX1 human

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

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GenomeRNAii
6899

Protein Ontology

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PROi
PR:O43435

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184058 Expressed in 184 organ(s), highest expression level in vastus lateralis
ExpressionAtlasiO43435 baseline and differential
GenevisibleiO43435 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
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
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

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ProtoNeti
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<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 nameiTBX1_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: O43435
Secondary accession number(s): C6G493
, C6G494, O43436, Q96RJ2
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: May 8, 2019
This is version 166 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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