UniProt:Q99593 TBX5

chain
  • chain:1-518
checksum 70118AD84FF5C00F
comment
  • 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).SUBUNIT 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).INTERACTION Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.ALTERNATIVE PRODUCTS The T-Box domain binds to double-stranded DNA (PubMed:26926761).PTM Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE 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.
crossReference
databaseName UniProt
dbId 65735
description
  • recommendedName: T-box transcription factor TBX5 shortName: T-box protein 5
displayName UniProt:Q99593 TBX5
geneName
  • TBX5
identifier Q99593
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Atrial fibrillation
  • Cardiomyopathy
  • Cytoplasm
  • Developmental protein
  • Disease variant
  • DNA-binding
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Transcription
  • Transcription regulation
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • TBX5
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • TBX5_HUMAN
  • A6ND77
  • O15301
  • Q96TB0
  • Q9Y4I2
sequenceLength 518
species [Species:48887] Homo sapiens
stId uniprot:Q99593
url http://purl.uniprot.org/uniprot/Q99593
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