ID:EYA4_HUMAN DESCRIPTION: RecName: Full=Eyes absent homolog 4; EC=3.1.3.48; FUNCTION: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. COFACTOR: Binds 1 Mg(2+) ion per subunit (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. DISEASE: Defects in EYA4 are the cause of deafness autosomal dominant type 10 (DFNA10) [MIM:601316]. DFNA10 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DISEASE: Defects in EYA4 are the cause of cardiomyopathy dilated type 1J (CMD1J) [MIM:605362]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. SIMILARITY: Belongs to the HAD-like hydrolase superfamily. EYA family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95677
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK301950 - Homo sapiens cDNA FLJ55557 complete cds, highly similar to Eyes absent homolog 4 (EC 3.1.3.48). AK295798 - Homo sapiens cDNA FLJ61280 complete cds, highly similar to Eyes absent homolog 4 (EC 3.1.3.48). Y17114 - Homo sapiens mRNA for EYA4 protein, complete CDS. BC041063 - Homo sapiens eyes absent homolog 4 (Drosophila), mRNA (cDNA clone MGC:52237 IMAGE:5458911), complete cds. AK299378 - Homo sapiens cDNA FLJ61361 complete cds, highly similar to Eyes absent homolog 4 (EC 3.1.3.48). KJ896783 - Synthetic construct Homo sapiens clone ccsbBroadEn_06177 EYA4 gene, encodes complete protein. EU446856 - Synthetic construct Homo sapiens clone IMAGE:100069915; IMAGE:100012065; FLH257076.01L eyes absent homolog 4 (Drosophila) (EYA4) gene, encodes complete protein. KU178044 - Homo sapiens eyes absent-like protein 4 isoform 1 (EYA4) mRNA, partial cds. KU178045 - Homo sapiens eyes absent-like protein 4 isoform 2 (EYA4) mRNA, partial cds, alternatively spliced. BC014193 - Homo sapiens eyes absent homolog 4 (Drosophila), mRNA (cDNA clone IMAGE:4110403), partial cds. BC030588 - Homo sapiens eyes absent homolog 4 (Drosophila), mRNA (cDNA clone IMAGE:4824107). JD116675 - Sequence 97699 from Patent EP1572962. JD175311 - Sequence 156335 from Patent EP1572962. JD202860 - Sequence 183884 from Patent EP1572962. JD465288 - Sequence 446312 from Patent EP1572962. JD375241 - Sequence 356265 from Patent EP1572962. JD464719 - Sequence 445743 from Patent EP1572962. JD151544 - Sequence 132568 from Patent EP1572962. JD164658 - Sequence 145682 from Patent EP1572962. JD276357 - Sequence 257381 from Patent EP1572962. JD183029 - Sequence 164053 from Patent EP1572962. JD164489 - Sequence 145513 from Patent EP1572962. AJ007994 - Homo sapiens MRNA for EYA4 protein, exon 19 splice form. AJ007993 - Homo sapiens mRNA for EYA4 protein, exon 20 splice form. JD229184 - Sequence 210208 from Patent EP1572962. JD263696 - Sequence 244720 from Patent EP1572962. JD501912 - Sequence 482936 from Patent EP1572962. JD308734 - Sequence 289758 from Patent EP1572962. JD563440 - Sequence 544464 from Patent EP1572962. JD055829 - Sequence 36853 from Patent EP1572962. JD067121 - Sequence 48145 from Patent EP1572962. JD344299 - Sequence 325323 from Patent EP1572962. JD086904 - Sequence 67928 from Patent EP1572962. JD263160 - Sequence 244184 from Patent EP1572962. JD301234 - Sequence 282258 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O95677 (Reactome details) participates in the following event(s):
R-HSA-5683964 ATM phosphorylates EYA1-4 R-HSA-5683967 EYA1-4 dephosphorylates tyrosine Y142 of H2AFX R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-5693606 DNA Double Strand Break Response R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73894 DNA Repair
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
