| Tag | Content |
|---|---|
| Uniprot ID | P97767; G5E864; O08818; |
| Entrez ID | 14048 |
| Genbank protein ID | AAD19355.1; AAB48017.1; CAA71312.1; CAA07818.1; EDL14327.1; |
| Genbank nucleotide ID | NM_001310459.1; XM_017315348.1; |
| Ensembl protein ID | ENSMUSP00000141112; ENSMUSP00000027066; |
| Ensembl nucleotide ID | ENSMUSG00000025932 |
| Gene name | Eyes absent homolog 1 |
| Gene symbol | Eya1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E13.5, E14.5 |
| Data sources | Manually collected |
| Reference | 10471511; 21364285; 16990542; |
| Functional description | Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:10490620). 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 (PubMed:14628042). 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 (PubMed:10471511). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (PubMed:17098221). |
| Sequence | MEMQDLTSPH SRLSGSSESP SGPKLDSSHI NSTSMTPNGT EVKTEPMSSS EIASTAADGS 60 LDSFSGSALG SSSFSPRPAH PFSPPQIYPS KSYPHILPTP SSQTMAAYGQ TQFTTGMQQA 120 TAYATYPQPG QPYGISSYGA LWAGIKTESG LSQSQSPGQT GFLSYGTSFG TPQPGQAPYS 180 YQMQGSSFTT SSGLYSGNNS LTNSSGFNSS QQDYPSYPGF GQGQYAQYYN SSPYPAHYMT 240 SSNTSPTTPS TNATYQLQEP PSGVTSQAVT DPTAEYSTIH SPSTPIKETD SERLRRGSDG 300 KSRGRGRRNN NPSPPPDSDL ERVFIWDLDE TIIVFHSLLT GSYANRYGRD PPTSVSLGLR 360 MEEMIFNLAD THLFFNDLEE CDQVHIDDVS SDDNGQDLST YNFGTDGFPA AATSANLCLA 420 TGVRGGVDWM RKLAFRYRRV KEIYNTYKNN VGGLLGPAKR EAWLQLRAEI EALTDSWLTL 480 ALKALSLIHS RTNCVNILVT TTQLIPALAK VLLYGLGIVF PIENIYSATK IGKESCFERI 540 IQRFGRKVVY VVIGDGVEEE QGAKKHAMPF WRVSSHSDLM ALHHALELEY L 591 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | EYA1 | 477910 | A0A5F4BXU4 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | EYA1 | 102178462 | A0A452FKX1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | EYA1 | 2138 | Q99502 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Eya1 | 14048 | P97767 | CPO | E13.5, E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | EYA1 | 472789 | A0A2J8M9N5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Eya1 | D3ZVI5 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | eya1 | 30436 | E9QJ32 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| EYA1 | rs13260349C>T | Genotyping; TDT | 23601008 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003723 | RNA binding | IDA |
| GO:0004725 | protein tyrosine phosphatase activity | ISO |
| GO:0004725 | protein tyrosine phosphatase activity | IDA |
| GO:0004725 | protein tyrosine phosphatase activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0046872 | metal ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001656 | metanephros development | IMP |
| GO:0001657 | ureteric bud development | IGI |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IGI |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0006302 | double-strand break repair | ISS |
| GO:0006302 | double-strand break repair | ISO |
| GO:0006470 | protein dephosphorylation | IDA |
| GO:0007389 | pattern specification process | IGI |
| GO:0007389 | pattern specification process | IMP |
| GO:0007501 | mesodermal cell fate specification | IDA |
| GO:0009887 | animal organ morphogenesis | IMP |
| GO:0010212 | response to ionizing radiation | ISS |
| GO:0010212 | response to ionizing radiation | ISO |
| GO:0014706 | striated muscle tissue development | IGI |
| GO:0016576 | histone dephosphorylation | ISS |
| GO:0016576 | histone dephosphorylation | ISO |
| GO:0016576 | histone dephosphorylation | IBA |
| GO:0016925 | protein sumoylation | IDA |
| GO:0030154 | cell differentiation | IBA |
| GO:0035335 | peptidyl-tyrosine dephosphorylation | IEA |
| GO:0035909 | aorta morphogenesis | IMP |
| GO:0042472 | inner ear morphogenesis | IMP |
| GO:0042472 | inner ear morphogenesis | IGI |
| GO:0042473 | outer ear morphogenesis | IMP |
| GO:0042474 | middle ear morphogenesis | IMP |
| GO:0045165 | cell fate commitment | IMP |
| GO:0045664 | regulation of neuron differentiation | IMP |
| GO:0045664 | regulation of neuron differentiation | IGI |
| GO:0045739 | positive regulation of DNA repair | ISS |
| GO:0045739 | positive regulation of DNA repair | ISO |
| GO:0045739 | positive regulation of DNA repair | IBA |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048665 | neuron fate specification | IGI |
| GO:0048704 | embryonic skeletal system morphogenesis | IMP |
| GO:0048752 | semicircular canal morphogenesis | IMP |
| GO:0048856 | anatomical structure development | IGI |
| GO:0048856 | anatomical structure development | IBA |
| GO:0050679 | positive regulation of epithelial cell proliferation | IMP |
| GO:0060037 | pharyngeal system development | IMP |
| GO:0071599 | otic vesicle development | IGI |
| GO:0071600 | otic vesicle morphogenesis | IMP |
| GO:0072513 | positive regulation of secondary heart field cardioblast proliferation | IGI |
| GO:0090103 | cochlea morphogenesis | IMP |
| GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | IMP |
| GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0016604 | nuclear body | ISO |
| GO:0032991 | protein-containing complex | IDA |
| GO:0032993 | protein-DNA complex | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-5693532 | DNA Double-Strand Break Repair | IEA |
| R-MMU-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | IEA |
| R-MMU-5693606 | DNA Double Strand Break Response | IEA |
| R-MMU-73894 | DNA Repair | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0010 | Activator |
| KW-0025 | Alternative splicing |
| KW-0156 | Chromatin regulator |
| KW-0963 | Cytoplasm |
| KW-0217 | Developmental protein |
| KW-0227 | DNA damage |
| KW-0234 | DNA repair |
| KW-0378 | Hydrolase |
| KW-0460 | Magnesium |
| KW-0479 | Metal-binding |
| KW-0539 | Nucleus |
| KW-0904 | Protein phosphatase |
| KW-1185 | Reference proteome |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |