EYA1_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: EYA1_HUMAN
• UniProt AC: Q99502
• Protein Name: Eyes absent homolog 1
• Gene Name: EYA1
• Organism: Homo sapiens (Human).
• Sequence Length: 592
• Subcellular Localization: Cytoplasm . Nucleus . Localizes at sites of DNA damage at double-strand breaks (DSBs).
• Protein Description: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. [PubMed: 19234442 Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity]
• Protein Sequence: MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL

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
7	Phosphorylation	-MEMQDLTSPHSRLS -CCCCCCCCCCCCCC	48.80	22210691
8	Phosphorylation	MEMQDLTSPHSRLSG CCCCCCCCCCCCCCC	28.10	22210691
17	Phosphorylation	HSRLSGSSESPSGPK CCCCCCCCCCCCCCC	45.69	25002506
19	Phosphorylation	RLSGSSESPSGPKLG CCCCCCCCCCCCCCC	26.72	25850435
21	Phosphorylation	SGSSESPSGPKLGNS CCCCCCCCCCCCCCC	76.61	25002506
43	Sumoylation	TPNGTEVKTEPMSSS CCCCCEEECCCCCCC	40.72	-
43	Sumoylation	TPNGTEVKTEPMSSS CCCCCEEECCCCCCC	40.72	-
147	Sumoylation	GALWAGIKTEGGLSQ CCHHEEEEECCCCCC	39.34	-
147	Sumoylation	GALWAGIKTEGGLSQ CCHHEEEEECCCCCC	39.34	-
299	Phosphorylation	SDRLRRGSDGKSRGR CCHHCCCCCCCCCCC	41.18	-
303	Phosphorylation	RRGSDGKSRGRGRRN CCCCCCCCCCCCCCC	45.56	-
314	Phosphorylation	GRRNNNPSPPPDSDL CCCCCCCCCCCCCCC	52.76	19664994
319	Phosphorylation	NPSPPPDSDLERVFI CCCCCCCCCCCEEEE	50.28	23663014
460	Acetylation	GGLLGPAKREAWLQL CCCCCHHHHHHHHHH	54.63	7851327
477	Phosphorylation	EIEALTDSWLTLALK HHHHHCHHHHHHHHH	20.81	24850871
480	Phosphorylation	ALTDSWLTLALKALS HHCHHHHHHHHHHHH	12.06	24850871
534	Ubiquitination	YSATKIGKESCFERI HHHCHHCHHHHHHHH	50.34	-

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

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
299	S	Phosphorylation	Kinase	AKT1	P31749	PSP

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of EYA1_HUMAN !!

Disease-associated PTM Sites based on SAP

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

Oops, there are no SNP-PTM records of EYA1_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
SIX1_HUMAN	SIX1	physical	11734542
FZR1_HUMAN	FZR1	physical	23263983
GSK3B_HUMAN	GSK3B	physical	24752894
FBXW7_HUMAN	FBXW7	physical	24752894
H2AX_HUMAN	H2AFX	physical	27795300
MYC_HUMAN	MYC	physical	27795300
FBXW7_HUMAN	FBXW7	physical	27795300
VATB2_HUMAN	ATP6V1B2	physical	27880917
BAF_HUMAN	BANF1	physical	27880917
DPYL3_HUMAN	DPYSL3	physical	27880917
GRPE1_HUMAN	GRPEL1	physical	27880917
RFA1_HUMAN	RPA1	physical	27880917
RFA2_HUMAN	RPA2	physical	27880917
RFA3_HUMAN	RPA3	physical	27880917
SIX2_HUMAN	SIX2	physical	27880917
SIX4_HUMAN	SIX4	physical	27880917
JIP4_HUMAN	SPAG9	physical	27880917
LAP2A_HUMAN	TMPO	physical	27880917
LAP2B_HUMAN	TMPO	physical	27880917
C43BP_HUMAN	COL4A3BP	physical	28514442
PTN9_HUMAN	PTPN9	physical	28514442

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 113650: Branchiootorenal syndrome 1 (BOR1)
• 166780: Otofaciocervical syndrome 1 (OFC1)
• 602588: Branchiootic syndrome 1 (BOS1)
• 602588: Anterior segment anomalies with or without cataract (ASA)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.