TBX5_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: TBX5_HUMAN
• UniProt AC: Q99593
• Protein Name: T-box transcription factor TBX5
• Gene Name: TBX5
• Organism: Homo sapiens (Human).
• Sequence Length: 518
• Subcellular Localization: Nucleus . Cytoplasm . Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.
• Protein Description: DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. [PubMed: 25725155]
• Protein Sequence: MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
13	Phosphorylation	EGFGLAHTPLEPDAK CCCCCCCCCCCCCCC	24.78	27732954
30	Phosphorylation	PCDSKPESALGAPSK CCCCCCHHHCCCCCC	37.00	29743597
38	Phosphorylation	ALGAPSKSPSSPQAA HCCCCCCCCCCCCHH	34.06	27732954
40	Phosphorylation	GAPSKSPSSPQAAFT CCCCCCCCCCCHHHH	62.84	27732954
41	Phosphorylation	APSKSPSSPQAAFTQ CCCCCCCCCCHHHHH	25.15	27732954
47	Phosphorylation	SSPQAAFTQQGMEGI CCCCHHHHHHHHCCE	18.43	27732954
86	Phosphorylation	AGRRMFPSYKVKVTG CCCCCCCCCEEEEEC	26.73	-
92	Phosphorylation	PSYKVKVTGLNPKTK CCCEEEEECCCCCCC	30.18	29396449
114	Phosphorylation	VPADDHRYKFADNKW EECCCCCEEECCCCE	13.67	22817900
217	Phosphorylation	AFIAVTSYQNHKITQ EEEEEEEECCCEEEE	12.17	-
252	Phosphorylation	HRMSRMQSKEYPVVP HHHHHCCCCCCCCCC	20.36	-
255	Phosphorylation	SRMQSKEYPVVPRST HHCCCCCCCCCCHHH	12.69	-
261	Phosphorylation	EYPVVPRSTVRQKVA CCCCCCHHHHHHHHH	25.78	-
262	Phosphorylation	YPVVPRSTVRQKVAS CCCCCHHHHHHHHHH	22.46	-
269	Phosphorylation	TVRQKVASNHSPFSS HHHHHHHHCCCCCCH	37.75	27732954
272	Phosphorylation	QKVASNHSPFSSESR HHHHHCCCCCCHHHH	31.71	27732954
339	Acetylation	STTDHPYKKPYMETS CCCCCCCCCCCCCCC	52.29	29174768
342	Phosphorylation	DHPYKKPYMETSPSE CCCCCCCCCCCCCCH	19.23	27732954
345	Phosphorylation	YKKPYMETSPSEEDS CCCCCCCCCCCHHHH	29.43	27732954
346	Phosphorylation	KKPYMETSPSEEDSF CCCCCCCCCCHHHHH	17.08	27732954
348	Phosphorylation	PYMETSPSEEDSFYR CCCCCCCCHHHHHCC	54.08	27732954
352	Phosphorylation	TSPSEEDSFYRSSYP CCCCHHHHHCCCCCC	27.70	24275569
354	Phosphorylation	PSEEDSFYRSSYPQQ CCHHHHHCCCCCCCC	17.34	24275569
358	Phosphorylation	DSFYRSSYPQQQGLG HHHCCCCCCCCCCCC	13.30	-
368	Phosphorylation	QQGLGASYRTESAQR CCCCCCHHCCHHHHH	22.48	22817900
496	Phosphorylation	YSHGVPRTLSPHQYH HCCCCCCCCCHHHCC	26.05	27732954
498	Phosphorylation	HGVPRTLSPHQYHSV CCCCCCCCHHHCCCC	21.52	27732954
502	Phosphorylation	RTLSPHQYHSVHGVG CCCCHHHCCCCCCCC	7.95	27732954
504	Phosphorylation	LSPHQYHSVHGVGMV CCHHHCCCCCCCCCC	15.75	27732954

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Oops, there are no upstream regulatory protein records of TBX5_HUMAN !!

Functions of PTM Sites

Modified Location	Modified Residue	Modification	Function	Reference
339	K	Acetylation	Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.	29174768

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of TBX5_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
GATA4_HUMAN	GATA4	physical	12845333
NKX25_HUMAN	NKX2-5	physical	11431700
KDM6A_HUMAN	KDM6A	physical	22192413
SMCA4_HUMAN	SMARCA4	physical	22192413
WWTR1_MOUSE	Wwtr1	physical	16332960
FBX25_HUMAN	FBXO25	physical	25725482

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 142900: Holt-Oram syndrome (HOS)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.