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- Table of Contents
Facts about Eyes absent homolog 1.
'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 (By similarity).
Human | |
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Gene Name: | EYA1 |
Uniprot: | Q99502 |
Entrez: | 2138 |
Belongs to: |
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HAD-like hydrolase superfamily |
BOP; BOR; EC 3.1.3.48; eyes absent (Drosophila) homolog 1; eyes absent homolog 1 (Drosophila); eyes absent homolog 1; MGC141875
Mass (kDA):
64.593 kDA
Human | |
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Location: | 8q13.3 |
Sequence: | 8; NC_000008.11 (71197433..71548104, complement) |
In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.
Cytoplasm. Nucleus. Localizes at sites of DNA damage at double-strand breaks (DSBs).
PMID: 9361030 by Abdelhak S., et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
PMID: 9020840 by Abdelhak S., et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.