TBX5
entrez
6910
canonical
uniprot
Q99593
canonical
ensembl
ENSG00000089225
resolver
ensp
ENSP00000309913
resolver
ensp
ENSP00000337723
resolver
ensp
ENSP00000384152
resolver
genesymbol
TBX5
resolver
hgnc
HGNC:11604
resolver
uniprot
A6ND77
resolver
uniprot
O15301
resolver
uniprot
Q96TB0
resolver
uniprot
Q9Y4I2
resolver
uniprot_entry
TBX5_HUMAN
resolver
uniprot_sec
A6ND77
resolver
uniprot_sec
O15301
resolver
uniprot_sec
Q96TB0
resolver
uniprot_sec
Q9Y4I2
resolver
amino_acid_sequence
MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS
uniprot
proteins
disease_involvement
DISEASE: Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. {ECO:0000269|PubMed:10077612, ECO:0000269|PubMed:10842287, ECO:0000269|PubMed:12818525, ECO:0000269|PubMed:15735645, ECO:0000269|PubMed:20450920, ECO:0000269|PubMed:8988164, ECO:0000269|PubMed:8988165}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:25725155, ECO:0000269|PubMed:25963046, ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:27035640}.
uniprot
proteins
function
FUNCTION: 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:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761). {ECO:0000269|PubMed:25725155, ECO:0000269|PubMed:25963046, ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:26926761, ECO:0000269|PubMed:27035640, ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:8988164}.
uniprot
proteins
mass_dalton
57711
uniprot
proteins
mutagenesis
MUTAGEN 234; /note="K->R: Does not affect acetylation of the protein."; /evidence="ECO:0000269|PubMed:29174768"; MUTAGEN 325; /note="K->R: Does not affect transcription factor activity."; /evidence="ECO:0000269|PubMed:29174768"; MUTAGEN 327; /note="K->R: Does not affect transcription factor activity."; /evidence="ECO:0000269|PubMed:29174768"; MUTAGEN 339; /note="K->R: Abolishes acetylation of the protein, leading to impaired transcription factor activity. Impaired subcellular location."; /evidence="ECO:0000269|PubMed:29174768"; MUTAGEN 340; /note="K->R: Does not affect transcription factor activity."; /evidence="ECO:0000269|PubMed:29174768
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention. {ECO:0000269|PubMed:29174768}.
uniprot
proteins
pubmed
10077612
uniprot
proteins
pubmed
10842287
uniprot
proteins
pubmed
11183182
uniprot
proteins
pubmed
12818525
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15735645
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
20450920
uniprot
proteins
pubmed
24000169
uniprot
proteins
pubmed
25725155
uniprot
proteins
pubmed
25963046
uniprot
proteins
pubmed
26917986
uniprot
proteins
pubmed
26926761
uniprot
proteins
pubmed
27035640
uniprot
proteins
pubmed
29174768
uniprot
proteins
pubmed
8988164
uniprot
proteins
pubmed
8988165
uniprot
proteins
sequence_length
518
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201, ECO:0000269|PubMed:29174768}. Cytoplasm {ECO:0000269|PubMed:29174768}. Note=Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention. {ECO:0000269|PubMed:29174768}.
uniprot
proteins