| Tag | Content |
|---|---|
| Uniprot ID | Q99502; A6NHQ0; G5E9R4; Q0P516; Q8WX80; |
| Entrez ID | 2138 |
| Genbank protein ID | CAA03923.1; CAA03922.1; AAI21800.1; EAW86976.1; AAL73437.1; CAA71309.1; |
| Genbank nucleotide ID | NM_001288575.1; NM_172059.3; NM_172058.3; XM_017013212.1; XM_017013206.1; NM_172060.3; NM_000503.5; NM_001288574.1; |
| Ensembl protein ID | ENSP00000373392; ENSP00000373394; ENSP00000494438; ENSP00000342626; ENSP00000410176; ENSP00000496255; |
| Ensembl nucleotide ID | ENSG00000104313 |
| Gene name | Eyes absent homolog 1 |
| Gene symbol | EYA1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 23601008 |
| Functional 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). |
| Sequence | MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS 60 LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT PSSQTMAAYG QTQFTTGMQQ 120 ATAYATYPQP GQPYGISSYG ALWAGIKTEG GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY 180 SYQMQGSSFT TSSGIYTGNN SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM 240 TSSNTSPTTP STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD 300 GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR DPPTSVSLGL 360 RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS TYNFGTDGFP AAATSANLCL 420 ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN NVGGLLGPAK REAWLQLRAE IEALTDSWLT 480 LALKALSLIH SRTNCVNILV TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER 540 IIQRFGRKVV YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL 592 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.