Homo sapiens Protein: EYA4 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-387270.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | EYA4 | ||||||||||||||||||||||
Protein Name | eyes absent homolog 4 (Drosophila) | ||||||||||||||||||||||
Synonyms | CMD1J; DFNA10; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000404558 | ||||||||||||||||||||||
InnateDB Gene | IDBG-96723 (EYA4) | ||||||||||||||||||||||
Protein Structure |
![]() |
||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic 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. {ECO:0000269PubMed:11159937}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. {ECO:0000269PubMed:15735644}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Highly expressed in heart and skeletal muscle. {ECO:0000269PubMed:15735644}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR006545
EYA domain IPR023214 HAD-like domain |
||||||||||||||||||||||
PFAM |
PF00702
PF08282 PF13419 |
||||||||||||||||||||||
PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O95677 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O95677 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2070 | ||||||||||||||||||||||
UniGene | Hs.598525 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:3522 | ||||||||||||||||||||||
OMIM | 603550 | ||||||||||||||||||||||
CCDS | CCDS5166 | ||||||||||||||||||||||
HPRD | 04648 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AJ007993 AJ007994 AK301950 AL024497 AL121959 AL450270 BC041063 Y17114 Y17847 | ||||||||||||||||||||||
GenPept | AAH41063 BAH13593 CAA07816 CAA07817 CAA76636 CAA76891 CAB92069 CAI41272 CAI42524 | ||||||||||||||||||||||