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Protein Page:
TBX5 (human)

Overview
TBX5 Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX5 are the cause of Holt-Oram syndrome (HOS). HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleus
Molecular Function: protein binding; DNA binding; sequence-specific DNA binding; transcription factor binding; transcription factor activity
Biological Process: embryonic forelimb morphogenesis; transcription initiation from RNA polymerase II promoter; pericardium development; positive regulation of transcription, DNA-dependent; heart development; pattern specification process; cardiac muscle cell differentiation; forelimb morphogenesis; negative regulation of cell proliferation; apoptotic nuclear changes; cell-cell signaling; negative regulation of cardiac muscle cell proliferation; positive regulation of cardioblast differentiation; morphogenesis of an epithelium; positive regulation of transcription from RNA polymerase II promoter; gene expression; negative regulation of cell migration; embryonic limb morphogenesis; positive regulation of cardiac muscle cell proliferation; lung development
Reference #:  Q99593 (UniProtKB)
Alt. Names/Synonyms: HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5; TBX5
Gene Symbols: TBX5
Molecular weight: 57,711 Da
Basal Isoelectric point: 7.14  Predict pI for various phosphorylation states
Select Structure to View Below

TBX5

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T92-p PSYKVKVtGLNPKTK
0 1 Y114-p VPADDHRyKFADNKW
0 1 Y217-p AFIAVTSyQNHKITQ
0 1 S252-p HRMSRMQsKEyPVVP
0 3 Y255-p SRMQsKEyPVVPRst
0 2 S261-p EyPVVPRstVRQKVA
0 2 T262-p yPVVPRstVRQKVAS
0 1 S272 QKVASNHSPFSSESR
0 1 S276 SNHSPFSSESRALST
0 1 S278 HSPFSSESRALSTSS
0 1 Y342-p DHPYKKPyMETSPSE
0 1 S352-p TSPSEEDsFyRSSyP
0 1 Y354-p PSEEDsFyRSSyPQQ
0 1 Y358-p DsFyRSSyPQQQGLG
0 1 Y368-p QQGLGASyRTESAQR
  mouse

 
T92 PSYKVKVTGLNPKTK
Y114 VPADDHRYKFADNKW
Y217 AFIAVTSYQNHKITQ
S252 HRMSRMQSKEyPVVP
Y255-p SRMQSKEyPVVPRst
S261-p EyPVVPRstVRHKVT
T262-p yPVVPRstVRHKVTS
S272-p HKVTSNHsPFSsEtR
S276-p SNHsPFSsEtRALST
T278-p HsPFSsEtRALSTSS
Y342 EHPYKKPYMETSPSE
T352 TSPSEEDTFYRSGYP
Y354 PSEEDTFYRSGYPQQ
Y358 DTFYRSGYPQQQGLS
Y368 QQGLSTSYRTESAQR
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