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UniProtKB - O43435 (TBX1_HUMAN)

Entry version 176 (02 Dec 2020)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
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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%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 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43435

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%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 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%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:TBX1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 22

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000184058.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:11592, TBX1

Online Mendelian Inheritance in Man (OMIM)

More...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.

More...GeneReviewsi		TBX1

MalaCards human disease database

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

Open Targets

More...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

More...PharmGKBi		PA36355

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43435, Tbio

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 or proteolytic cleavage.<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

More...jPOSTi		O43435

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43435

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43435

PeptideAtlas

More...PeptideAtlasi		O43435

PRoteomics IDEntifications database

More...PRIDEi		O43435

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48946 [O43435-1]
48947 [O43435-2]
48948 [O43435-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43435

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

More...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

More...Bgeei		ENSG00000184058, Expressed in skeletal muscle tissue and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...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		ENSG00000184058, Tissue enriched (skeletal)

<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

Interacts with DSCR6.

By similarity

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112762, 4 interactors

Protein interaction database and analysis system

More...IntActi		O43435, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000331791

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43435, 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

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

More...SMRi		O43435

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3586, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154816

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014430_9_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43435

Identification of Orthologs from Complete Genome Data

More...OMAi		TTYEHYL

Database of Orthologous Groups

More...OrthoDBi		1185429at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43435

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
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

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 (3+)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 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. 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 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 <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
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:rs4819522Ensembl.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

More...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

More...GeneIDi		6899

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6899

UCSC genome browser

More...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

More...RCSB PDBi

Protein Data Bank Japan

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

Protein-protein interaction databases

BioGRIDi112762, 4 interactors
IntActiO43435, 1 interactor
STRINGi9606.ENSP00000331791

PTM databases

iPTMnetiO43435
PhosphoSitePlusiO43435

Polymorphism and mutation databases

BioMutaiTBX1

Proteomic databases

jPOSTiO43435
MassIVEiO43435
MaxQBiO43435
PeptideAtlasiO43435
PRIDEiO43435
ProteomicsDBi48946 [O43435-1]
48947 [O43435-2]
48948 [O43435-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22982, 301 antibodies

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

More...CTDi		6899
DisGeNETi6899
EuPathDBiHostDB:ENSG00000184058.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		TBX1
GeneReviewsiTBX1
HGNCiHGNC:11592, TBX1
HPAiENSG00000184058, Tissue enriched (skeletal)
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

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3586, Eukaryota
GeneTreeiENSGT00940000154816
HOGENOMiCLU_014430_9_1_1
InParanoidiO43435
OMAiTTYEHYL
OrthoDBi1185429at2759
PhylomeDBiO43435
TreeFamiTF106341

Enzyme and pathway databases

PathwayCommonsiO43435
SIGNORiO43435

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6899, 14 hits in 867 CRISPR screens

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

More...ChiTaRSi		TBX1, human

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

More...GenomeRNAii		6899
PharosiO43435, Tbio

Protein Ontology

More...PROi		PR:O43435
RNActiO43435, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000184058, Expressed in skeletal muscle tissue and 197 other tissues
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

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 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%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: July 15, 1999
Last sequence update: June 1, 1998
Last modified: December 2, 2020
This is version 176 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, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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