| Gene Symbol | EYA1 |
|---|---|
| Entrez Gene | 2138 |
| Alt Symbol | BOP, BOR, BOS1, OFC1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | EYA transcriptional coactivator and phosphatase 1 |
| Other Description | eyes absent homolog 1 |
| Swissprots | A6NHQ0 G5E9R4 Q0P516 Q8WX80 Q99502 |
| Accessions | CAA71309 CAH05072 CAH05073 EAW86973 EAW86974 EAW86975 EAW86976 EAW86977 EAW86978 EAW86979 EAW86980 Q99502 AF467247 AAL73437 AJ000097 CAA03922 AJ000098 CAA03923 AK127798 BAG54573 AK295897 BAG58690 AK307379 BC035138 BC048982 BC121798 AAI21799 BC121799 AAI21800 BI497179 BQ223588 BU679404 DA618315 DA746489 DB004805 DC360066 DC409057 LN608216 LN608217 LN608218 XM_011517481 XP_011515783 XM_011517482 XP_011515784 XM_011517483 XP_011515785 XM_011517484 XP_011515786 XM_011517485 XP_011515787 XM_011517486 XP_011515788 XM_011517487 XP_011515789 XM_011517488 XP_011515790 XM_011517489 XP_011515791 XM_011517490 XP_011515792 XM_011517491 XP_011515793 XM_011517492 XP_011515794 NM_000503 NP_000494 NM_001288574 NP_001275503 NM_001288575 NP_001275504 NM_172058 NP_742055 NM_172059 NP_742056 NM_172060 NP_742057 |
| Function | Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. 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. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2. {ECO:0000269|PubMed:19234442}. |
| Subcellular Location | Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). |
| Tissue Specificity | In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney. |
| Top Pathways | Transcriptional misregulation in cancer |