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UniProtKB - Q99593 (TBX5_HUMAN)
Protein
T-box transcription factor TBX5
Gene
TBX5
Organism
Homo sapiens (Human)
Status
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 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 58 – 238 | T-boxPROSITE-ProRule annotation1 PublicationAdd BLAST | 181 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
- sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- atrial septum morphogenesis Source: Ensembl
- atrioventricular bundle cell differentiation Source: BHF-UCL
- atrioventricular node cell development Source: BHF-UCL
- atrioventricular node cell fate commitment Source: BHF-UCL
- atrioventricular valve morphogenesis Source: Ensembl
- bundle of His cell to Purkinje myocyte communication by electrical coupling Source: BHF-UCL
- bundle of His development Source: BHF-UCL
- cardiac left ventricle formation Source: BHF-UCL
- cell-cell signaling Source: UniProtKB
- cell-cell signaling involved in cardiac conduction Source: BHF-UCL
- cell fate specification Source: GO_Central
- cell migration involved in coronary vasculogenesis Source: DFLAT
- embryonic forelimb morphogenesis Source: UniProtKB
- embryonic limb morphogenesis Source: UniProtKB
- endocardial cushion development Source: Ensembl
- forelimb morphogenesis Source: MGI
- heart development Source: UniProtKB
- lung development Source: Ensembl
- morphogenesis of an epithelium Source: Ensembl
- negative regulation of cardiac muscle cell proliferation Source: UniProtKB
- negative regulation of cell migration Source: UniProtKB
- negative regulation of cell population proliferation Source: UniProtKB
- negative regulation of epithelial to mesenchymal transition Source: DFLAT
- pattern specification process Source: GO_Central
- pericardium development Source: UniProtKB
- positive regulation of cardiac conduction Source: BHF-UCL
- positive regulation of cardiac muscle cell proliferation Source: Ensembl
- positive regulation of cardioblast differentiation Source: UniProtKB
- positive regulation of cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
- positive regulation of gap junction assembly Source: BHF-UCL
- positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
- ventricular septum development Source: BHF-UCL
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q99593 |
Reactomei | R-HSA-2032785, YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-5578768, Physiological factors |
SignaLinki | Q99593 |
SIGNORi | Q99593 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TBX5Short name: T-box protein 5 |
Gene namesi | Name:TBX5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11604, TBX5 |
MIMi | 601620, gene |
neXtProti | NX_Q99593 |
VEuPathDBi | HostDB:ENSG00000089225 |
Subcellular locationi
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- chromatin Source: NTNU_SB
- cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
- protein-DNA complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Holt-Oram syndrome (HOS)7 Publications
The disease is caused by variants 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015381 | 49 | Q → K in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894383EnsemblClinVar. | 1 | |
Natural variantiVAR_015382 | 54 | I → T in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894384EnsemblClinVar. | 1 | |
Natural variantiVAR_009701 | 80 | G → 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_007456 | 237 | R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 PublicationsCorresponds to variant dbSNP:rs104894378EnsemblClinVar. | 1 | |
Natural variantiVAR_009702 | 237 | R → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 234 | K → R: Does not affect acetylation of the protein. 1 Publication | 1 | |
Mutagenesisi | 325 | K → R: Does not affect transcription factor activity. 1 Publication | 1 | |
Mutagenesisi | 327 | K → R: Does not affect transcription factor activity. 1 Publication | 1 | |
Mutagenesisi | 339 | K → R: Abolishes acetylation of the protein, leading to impaired transcription factor activity. Impaired subcellular location. 1 Publication | 1 | |
Mutagenesisi | 340 | K → R: Does not affect transcription factor activity. 1 Publication | 1 |
Keywords - Diseasei
Atrial fibrillation, Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 6910 |
GeneReviewsi | TBX5 |
MalaCardsi | TBX5 |
MIMi | 142900, phenotype |
OpenTargetsi | ENSG00000089225 |
Orphaneti | 392, Holt-Oram syndrome 101016, Romano-Ward syndrome |
PharmGKBi | PA36367 |
Miscellaneous databases
Pharosi | Q99593, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1687681 |
Genetic variation databases
BioMutai | TBX5 |
DMDMi | 12644474 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184435 | 1 – 518 | T-box transcription factor TBX5Add BLAST | 518 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 339 | N6-acetyllysine1 Publication | 1 |
Post-translational modificationi
Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.1 Publication
Keywords - PTMi
AcetylationProteomic databases
jPOSTi | Q99593 |
MassIVEi | Q99593 |
PaxDbi | Q99593 |
PeptideAtlasi | Q99593 |
PRIDEi | Q99593 |
ProteomicsDBi | 78347 [Q99593-1] 78348 [Q99593-2] 886 |
PTM databases
iPTMneti | Q99593 |
PhosphoSitePlusi | Q99593 |
Expressioni
Gene expression databases
Bgeei | ENSG00000089225, Expressed in tendon of biceps brachii and 127 other tissues |
Genevisiblei | Q99593, HS |
Organism-specific databases
HPAi | ENSG00000089225, Group enriched (heart muscle, lung, placenta) |
Interactioni
Subunit structurei
Binary interactionsi
Q99593
With | #Exp. | IntAct |
---|---|---|
BAIAP2 - isoform 6 [Q9UQB8-6] | 3 | EBI-297043,EBI-9092016 |
YAP1 [P46937] | 4 | EBI-297043,EBI-1044059 |
ZMYND10 [O75800] | 3 | EBI-297043,EBI-747061 |
Gata4 [Q08369] from Mus musculus. | 2 | EBI-297043,EBI-297008 |
Isoform 1 [Q99593-1]
With | #Exp. | IntAct |
---|---|---|
NKX2-5 [P52952] | 6 | EBI-304423,EBI-936601 |
GO - Molecular functioni
Protein-protein interaction databases
BioGRIDi | 112773, 10 interactors |
CORUMi | Q99593 |
IntActi | Q99593, 9 interactors |
STRINGi | 9606.ENSP00000309913 |
Miscellaneous databases
RNActi | Q99593, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q99593 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99593 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 46 | DisorderedSequence analysisAdd BLAST | 46 | |
Regioni | 250 – 356 | DisorderedSequence analysisAdd BLAST | 107 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 263 – 299 | Polar residuesSequence analysisAdd BLAST | 37 | |
Compositional biasi | 320 – 346 | Basic and acidic residuesSequence analysisAdd BLAST | 27 |
Domaini
The T-Box domain binds to double-stranded DNA (PubMed:26926761).1 Publication
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000156506 |
HOGENOMi | CLU_037025_1_0_1 |
InParanoidi | Q99593 |
OMAi | GEHSYKK |
OrthoDBi | 344556at2759 |
PhylomeDBi | Q99593 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q99593-1) [UniParc]FASTAAdd to basket
Also known as: Long
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
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
Sequence cautioni
The sequence BAB55448 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 7 – 49 | GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592 (PubMed:8988164).CuratedAdd BLAST | 43 | |
Sequence conflicti | 71 | Missing in CAA70592 (PubMed:8988164).Curated | 1 | |
Sequence conflicti | 94 | L → I in CAA70592 (PubMed:8988164).Curated | 1 | |
Sequence conflicti | 122 | S → C in CAA70592 (PubMed:8988164).Curated | 1 | |
Sequence conflicti | 132 | P → A in CAA70592 (PubMed:8988164).Curated | 1 | |
Sequence conflicti | 418 – 460 | MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592 (PubMed:8988164).CuratedAdd BLAST | 43 | |
Sequence conflicti | 468 – 470 | RQC → SSV in CAA70592 (PubMed:8988164).Curated | 3 | |
Sequence conflicti | 494 – 518 | PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592 (PubMed:8988164).CuratedAdd BLAST | 25 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015381 | 49 | Q → K in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894383EnsemblClinVar. | 1 | |
Natural variantiVAR_015382 | 54 | I → T in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894384EnsemblClinVar. | 1 | |
Natural variantiVAR_009701 | 80 | G → 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_076673 | 132 | P → S Probable disease-associated variant found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5. 1 Publication | 1 | |
Natural variantiVAR_074599 | 143 | A → T Probable disease-associated variant 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_074600 | 154 | S → A Probable disease-associated variant found in patients with familial dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity. 1 Publication | 1 | |
Natural variantiVAR_076642 | 170 | H → D Probable disease-associated variant found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5 or GATA4. 1 Publication | 1 | |
Natural variantiVAR_007456 | 237 | R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 PublicationsCorresponds to variant dbSNP:rs104894378EnsemblClinVar. | 1 | |
Natural variantiVAR_009702 | 237 | R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894382EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046845 | 1 – 50 | Missing in isoform 3. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_006387 | 328 – 349 | EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_006388 | 350 – 518 | Missing in isoform 2. 1 PublicationAdd BLAST | 169 |
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 |
CCDSi | CCDS9173.1 [Q99593-1] CCDS9174.1 [Q99593-3] |
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
Ensembli | ENST00000310346; ENSP00000309913; ENSG00000089225 ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3] ENST00000405440; ENSP00000384152; ENSG00000089225 ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2] |
GeneIDi | 6910 |
KEGGi | hsa:6910 |
MANE-Selecti | ENST00000405440.7; ENSP00000384152.3; NM_181486.4; NP_852259.1 |
UCSCi | uc001tvo.5, human [Q99593-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS9173.1 [Q99593-1] CCDS9174.1 [Q99593-3] |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2X6U | X-ray | 1.90 | A | 51-251 | [»] | |
2X6V | X-ray | 2.20 | A/B | 51-251 | [»] | |
4S0H | X-ray | 2.82 | A/E | 53-238 | [»] | |
5BQD | X-ray | 2.58 | A/B | 1-239 | [»] | |
SMRi | Q99593 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112773, 10 interactors |
CORUMi | Q99593 |
IntActi | Q99593, 9 interactors |
STRINGi | 9606.ENSP00000309913 |
Chemistry databases
ChEMBLi | CHEMBL1687681 |
PTM databases
iPTMneti | Q99593 |
PhosphoSitePlusi | Q99593 |
Genetic variation databases
BioMutai | TBX5 |
DMDMi | 12644474 |
Proteomic databases
jPOSTi | Q99593 |
MassIVEi | Q99593 |
PaxDbi | Q99593 |
PeptideAtlasi | Q99593 |
PRIDEi | Q99593 |
ProteomicsDBi | 78347 [Q99593-1] 78348 [Q99593-2] 886 |
Protocols and materials databases
ABCDi | Q99593, 6 sequenced antibodies |
Antibodypediai | 18791, 279 antibodies from 34 providers |
DNASUi | 6910 |
Genome annotation databases
Ensembli | ENST00000310346; ENSP00000309913; ENSG00000089225 ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3] ENST00000405440; ENSP00000384152; ENSG00000089225 ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2] |
GeneIDi | 6910 |
KEGGi | hsa:6910 |
MANE-Selecti | ENST00000405440.7; ENSP00000384152.3; NM_181486.4; NP_852259.1 |
UCSCi | uc001tvo.5, human [Q99593-1] |
Organism-specific databases
CTDi | 6910 |
DisGeNETi | 6910 |
GeneCardsi | TBX5 |
GeneReviewsi | TBX5 |
HGNCi | HGNC:11604, TBX5 |
HPAi | ENSG00000089225, Group enriched (heart muscle, lung, placenta) |
MalaCardsi | TBX5 |
MIMi | 142900, phenotype 601620, gene |
neXtProti | NX_Q99593 |
OpenTargetsi | ENSG00000089225 |
Orphaneti | 392, Holt-Oram syndrome 101016, Romano-Ward syndrome |
PharmGKBi | PA36367 |
VEuPathDBi | HostDB:ENSG00000089225 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000156506 |
HOGENOMi | CLU_037025_1_0_1 |
InParanoidi | Q99593 |
OMAi | GEHSYKK |
OrthoDBi | 344556at2759 |
PhylomeDBi | Q99593 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | Q99593 |
Reactomei | R-HSA-2032785, YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-5578768, Physiological factors |
SignaLinki | Q99593 |
SIGNORi | Q99593 |
Miscellaneous databases
BioGRID-ORCSi | 6910, 7 hits in 1062 CRISPR screens |
ChiTaRSi | TBX5, human |
EvolutionaryTracei | Q99593 |
GeneWikii | TBX5_(gene) |
GenomeRNAii | 6910 |
Pharosi | Q99593, Tbio |
PROi | PR:Q99593 |
RNActi | Q99593, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000089225, Expressed in tendon of biceps brachii and 127 other tissues |
Genevisiblei | Q99593, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBX5_HUMAN | |
Accessioni | Q99593Primary (citable) accession number: Q99593 Secondary accession number(s): A6ND77 Q9Y4I2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | December 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 204 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references