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Eyes absent homolog 4 (EYA4)
Function:
- tyrosine phosphatase
- specifically dephosphorylates Tyr-142 of histone H2AX
- Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair & acts as a mark that distinguishes between apoptotic & 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
Cofactor: binds 1 Mg+2 ion per subunit (putative)
Structure:
- belongs to the HAD-like hydrolase superfamily, EYA family
Compartment:
- cytoplasm (putative)
- nucleus
Alternative splicing: named isoforms=4
Expression:
- highly expressed in heart & skeletal muscle
Pathology:
- defects in EYA4 are the cause of:
a) autosomal dominant sensorineural deafness type 10
b) dilated cardiomyopathy type 1J
General
eyes absent homolog
phosphoprotein
Properties
SIZE: entity length = 639 aa
MW = 70 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Thr phosphorylation site {T15}
Ser phosphorylation site {S361}
aspartate residue {D375}
Mg+2-binding site
SITE: 375-375
aspartate residue {D377}
Mg+2-binding site
SITE: 377-377
Mg+2-binding site
SITE: 603-603
Database Correlations
OMIM correlations
UniProt O95677
Pfam PF00702
Entrez Gene 2070
Kegg hsa:2070
ENZYME 3.1.3.48
References
- UniProt :accession O95677
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EYA4