eyes absent homolog 1 (EYA1)

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
• seems to coactivate SIX2, SIX4 & SIX5
• may be required for normal development of branchial arches, ear & kidney
• probably interacts with SIX2, SIX4 & SIX5

Cofactor: binds 1 Mg+2 ion per subunit (putative)

Structure

belongs to the EYA family

Compartment

• cytoplasm (putative)
• nucleus

Alternative splicing

• named isoforms=2; EYA1A, EYA1B

Expression

• adult:
  • high in heart & skeletal muscle
  • weak in brain & liver
  • not seen in eye or kidney
• embryo: high in kidney, lower in brain, weak in lung

Pathology

• mutations associated with branchio-oto-renal syndrome (Melnick-Fraser syndrome)
• defects in EYA1 are the cause of:
  • branchiootorenal syndrome type 1
  • otofaciocervical syndrome
  • branchiootic syndrome type 1

More general terms

• eyes absent homolog
• tyrosine phosphatase (protein tyrosine phosphatate, PTP)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2138
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2138
• OMIM: https://mirror.omim.org/entry/113650
• OMIM: https://mirror.omim.org/entry/166780
• OMIM: https://mirror.omim.org/entry/601653
• OMIM: https://mirror.omim.org/entry/602588
• UniProt: http://www.uniprot.org/uniprot/Q99502.html