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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
Chromosomal Location of Human Ortholog: 12q24.1
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity; transcription factor binding
Biological Process: cardiac muscle cell differentiation; cell-cell signaling; embryonic forelimb morphogenesis; embryonic limb morphogenesis; forelimb morphogenesis; heart development; lung development; morphogenesis of an epithelium; negative regulation of cardiac muscle cell proliferation; negative regulation of cell migration; negative regulation of cell proliferation; pattern specification process; pericardium development; positive regulation of cardiac muscle cell proliferation; positive regulation of cardioblast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter
Disease: Holt-oram Syndrome
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


 LTP 

LTP: 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.


 HTP 

HTP: 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 S275 ASNHSPFSSESRALS
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
S275‑p TSNHsPFssEtRALS
S276‑p SNHsPFssEtRALST
T278‑p HsPFssEtRALSTSS
Y342 EHPYKKPYMETSPSE
T352 TSPSEEDTFYRSGYP
Y354 PSEEDTFYRSGYPQQ
Y358 DTFYRSGYPQQQGLS
Y368 QQGLSTSYRTESAQR
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