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Entry version 188 (08 May 2019)
Sequence version 2 (01 Dec 2000)
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Protein

T-box transcription factor TBX5

Gene

TBX5

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

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).7 Publications

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 bindingi58 – 238T-boxPROSITE-ProRule annotation1 PublicationAdd 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 functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-5578768 Physiological factors

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99593

<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 TBX5
Short name:
T-box protein 5
<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:TBX5
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11604 TBX5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601620 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99593

<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

Cytoplasm, 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

Holt-Oram syndrome (HOS)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDevelopmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
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_01538149Q → K in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894383EnsemblClinVar.1
Natural variantiVAR_01538254I → T in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894384EnsemblClinVar.1
Natural variantiVAR_00970180G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894381EnsemblClinVar.1
Natural variantiVAR_007456237R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 PublicationsCorresponds to variant dbSNP:rs104894378EnsemblClinVar.1
Natural variantiVAR_009702237R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894382EnsemblClinVar.1
Defects in TBX5 are associated with susceptibility to heart disorders including dilated cardiomyopathy (DCM) and atrial fibrillation (AF). DCM is characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death. AF is a common sustained cardiac rhythm disturbance. AF is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.4 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi234K → R: Does not affect acetylation of the protein. 1 Publication1
Mutagenesisi325K → R: Does not affect transcription factor activity. 1 Publication1
Mutagenesisi327K → R: Does not affect transcription factor activity. 1 Publication1
Mutagenesisi339K → R: Abolishes acetylation of the protein, leading to impaired transcription factor activity. Impaired subcellular location. 1 Publication1
Mutagenesisi340K → R: Does not affect transcription factor activity. 1 Publication1

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6910

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

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GeneReviewsi
TBX5

MalaCards human disease database

More...
MalaCardsi
TBX5
MIMi142900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000089225

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

More...
Orphaneti
392 Holt-Oram syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36367

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1687681

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBX5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12644474

<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_00001844351 – 518T-box transcription factor TBX5Add BLAST518

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 residuei339N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99593

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99593

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

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PaxDbi
Q99593

PeptideAtlas

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PeptideAtlasi
Q99593

PRoteomics IDEntifications database

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PRIDEi
Q99593

ProteomicsDB human proteome resource

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ProteomicsDBi
78347
78348 [Q99593-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99593

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

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PhosphoSitePlusi
Q99593

<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
ENSG00000089225 Expressed in 112 organ(s), highest expression level in tendon of biceps brachii

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99593 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA008786
HPA064683

<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

Monomer (PubMed:20450920). Homodimer (via the T-box); binds DNA as homodimer (PubMed:26926761). Interacts (via the T-box) with NKX2-5 (via the homeobox); this complex binds DNA (PubMed:26926761). Interacts with GATA4 (PubMed:24000169). Interacts with KAT2A and KAT2B (PubMed:29174768).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112773, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q99593

Protein interaction database and analysis system

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IntActi
Q99593, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000309913

<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

1518
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
Q99593

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...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q99593

<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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The T-Box domain binds to double-stranded DNA (PubMed:26926761).1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3585 Eukaryota
ENOG410XSTS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156506

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000286001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99593

KEGG Orthology (KO)

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KOi
K10179

Identification of Orthologs from Complete Genome Data

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OMAi
ISCNTWA

Database of Orthologous Groups

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OrthoDBi
344556at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99593

TreeFam database of animal gene trees

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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

More...
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

More...
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

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_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
Isoform 1 (identifier: Q99593-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG
60 70 80 90 100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY
110 120 130 140 150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR
160 170 180 190 200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA
210 220 230 240 250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM
260 270 280 290 300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP
310 320 330 340 350
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE
360 370 380 390 400
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT
410 420 430 440 450
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL
460 470 480 490 500
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH
510
QYHSVHGVGM VPEWSDNS
Length:518
Mass (Da):57,711
Last modified:December 1, 2000 - v2
<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:i70118AD84FF5C00F
GO
Isoform 2 (identifier: Q99593-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     328-349: EEECSTTDHPYKKPYMETSPSE → GECDHPWSICFLSYLFLSLGWG
     350-518: Missing.

Show »
Length:349
Mass (Da):39,196
Checksum:i50CE556CD97ACD76
GO
Isoform 3 (identifier: Q99593-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Show »
Length:468
Mass (Da):52,659
Checksum:iF0434B124BB31A5A
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB55448 differs from that shown. Reason: Frameshift at position 360.Curated

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 conflicti7 – 49GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592 (PubMed:8988164).CuratedAdd BLAST43
Sequence conflicti71Missing in CAA70592 (PubMed:8988164).Curated1
Sequence conflicti94L → I in CAA70592 (PubMed:8988164).Curated1
Sequence conflicti122S → C in CAA70592 (PubMed:8988164).Curated1
Sequence conflicti132P → A in CAA70592 (PubMed:8988164).Curated1
Sequence conflicti418 – 460MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592 (PubMed:8988164).CuratedAdd BLAST43
Sequence conflicti468 – 470RQC → SSV in CAA70592 (PubMed:8988164).Curated3
Sequence conflicti494 – 518PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592 (PubMed:8988164).CuratedAdd BLAST25

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01538149Q → K in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894383EnsemblClinVar.1
Natural variantiVAR_01538254I → T in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894384EnsemblClinVar.1
Natural variantiVAR_00970180G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894381EnsemblClinVar.1
Natural variantiVAR_076673132P → S Probable disease-associated mutation found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5. 1 Publication1
Natural variantiVAR_074599143A → T Probable disease-associated mutation found in a patient with sporadic dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs374906778Ensembl.1
Natural variantiVAR_074600154S → A Probable disease-associated mutation found in patients with familial dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity. 1 Publication1
Natural variantiVAR_076642170H → D Probable disease-associated mutation found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5 or GATA4. 1 Publication1
Natural variantiVAR_007456237R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 PublicationsCorresponds to variant dbSNP:rs104894378EnsemblClinVar.1
Natural variantiVAR_009702237R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894382EnsemblClinVar.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_0468451 – 50Missing in isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_006387328 – 349EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_006388350 – 518Missing in isoform 2. 1 PublicationAdd BLAST169

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

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DDBJi
Links Updated
Y09445 mRNA Translation: CAA70592.1
U80987 mRNA Translation: AAC51644.1
U89353 mRNA Translation: AAC04619.1
AF221714 mRNA Translation: AAF34659.1
AB051068 mRNA Translation: BAB55448.1 Frameshift.
AC009260 Genomic DNA No translation available.
AC069240 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98066.1
BC027942 mRNA Translation: AAH27942.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9173.1 [Q99593-1]
CCDS9174.1 [Q99593-3]

NCBI Reference Sequences

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RefSeqi
NP_000183.2, NM_000192.3 [Q99593-1]
NP_542448.1, NM_080717.2 [Q99593-3]
NP_852259.1, NM_181486.2 [Q99593-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310346; ENSP00000309913; ENSG00000089225 [Q99593-1]
ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3]
ENST00000405440; ENSP00000384152; ENSG00000089225 [Q99593-1]
ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6910

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6910

UCSC genome browser

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UCSCi
uc001tvo.5 human [Q99593-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
Y09445 mRNA Translation: CAA70592.1
U80987 mRNA Translation: AAC51644.1
U89353 mRNA Translation: AAC04619.1
AF221714 mRNA Translation: AAF34659.1
AB051068 mRNA Translation: BAB55448.1 Frameshift.
AC009260 Genomic DNA No translation available.
AC069240 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98066.1
BC027942 mRNA Translation: AAH27942.1
CCDSiCCDS9173.1 [Q99593-1]
CCDS9174.1 [Q99593-3]
RefSeqiNP_000183.2, NM_000192.3 [Q99593-1]
NP_542448.1, NM_080717.2 [Q99593-3]
NP_852259.1, NM_181486.2 [Q99593-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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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
2X6UX-ray1.90A51-251[»]
2X6VX-ray2.20A/B51-251[»]
4S0HX-ray2.82A/E53-238[»]
5BQDX-ray2.58A/B1-239[»]
SMRiQ99593
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112773, 7 interactors
CORUMiQ99593
IntActiQ99593, 9 interactors
STRINGi9606.ENSP00000309913

Chemistry databases

ChEMBLiCHEMBL1687681

PTM databases

iPTMnetiQ99593
PhosphoSitePlusiQ99593

Polymorphism and mutation databases

BioMutaiTBX5
DMDMi12644474

Proteomic databases

EPDiQ99593
jPOSTiQ99593
PaxDbiQ99593
PeptideAtlasiQ99593
PRIDEiQ99593
ProteomicsDBi78347
78348 [Q99593-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6910
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310346; ENSP00000309913; ENSG00000089225 [Q99593-1]
ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3]
ENST00000405440; ENSP00000384152; ENSG00000089225 [Q99593-1]
ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2]
GeneIDi6910
KEGGihsa:6910
UCSCiuc001tvo.5 human [Q99593-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6910
DisGeNETi6910

GeneCards: human genes, protein and diseases

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GeneCardsi
TBX5
GeneReviewsiTBX5
HGNCiHGNC:11604 TBX5
HPAiHPA008786
HPA064683
MalaCardsiTBX5
MIMi142900 phenotype
601620 gene
neXtProtiNX_Q99593
OpenTargetsiENSG00000089225
Orphaneti392 Holt-Oram syndrome
PharmGKBiPA36367

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00940000156506
HOGENOMiHOG000286001
InParanoidiQ99593
KOiK10179
OMAiISCNTWA
OrthoDBi344556at2759
PhylomeDBiQ99593
TreeFamiTF106341

Enzyme and pathway databases

ReactomeiR-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-5578768 Physiological factors
SIGNORiQ99593

Miscellaneous databases

EvolutionaryTraceiQ99593

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TBX5_(gene)

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

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GenomeRNAii
6910

Protein Ontology

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PROi
PR:Q99593

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000089225 Expressed in 112 organ(s), highest expression level in tendon of biceps brachii
GenevisibleiQ99593 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
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 nameiTBX5_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: Q99593
Secondary accession number(s): A6ND77
, O15301, Q96TB0, Q9Y4I2
<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: November 1, 1997
Last sequence update: December 1, 2000
Last modified: May 8, 2019
This is version 188 of the entry and version 2 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 12
    Human chromosome 12: 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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