Eyes absent homolog 1
EYA1 is involved in the dephosphorylation of histone H2A.X at the tyrosine 142 residue. This activity is supposed to play an important role in deciding whether upon DNA damage, the cell proceeds for apoptosis or the damage caused is repairable and the cell should survive (PMID: 19234442).
| UniprotKB Accession | Q99502 | |||
|---|---|---|---|---|
| Alternative Name(s) | ||||
| Eraser for PTM/s | H2AY142ph | |||
| EC number | 3.1.3.48 | |||
| No. of coding genes | Eyes absent homolog 1 is coded by following 1 non-allelic gene/s | |||
| Gene name | eyes absent homolog 1 (Drosophila) | |||
| Gene symbol | EYA1 | |||
| Promoter region (-700 TSS +300) | Get sequence | |||
| Previous Symbol/s | BOR | |||
| Aliases | ||||
| GeneID | 2138 | |||
| Chromosomal location | 8q13.3 | |||
| HGNC | 3519 | |||
| Unigene | Hs.491997 | |||
| MIM | 601653 | |||
| RefSeq mRNA | NM_000503.4 | NM_172058.2 | NM_172059.2 | NM_172060.2 |
| RefSeq Protein | NP_000494.2 | NP_742055.1 | NP_742056.1 | NP_742057.1 |
| Disease associations | Other: Branchio-oto-renal syndrome (BOR); PMID: 18220287 | |||
Serine/threonine/tyrosine phosphatases Dual specificity protein phosphatase 1, Eyes absent homolog 1, Eyes absent homolog 2, Eyes absent homolog 3, Protein phosphatase 1D, Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform, Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform, Serine/threonine-protein phosphatase 4 catalytic subunit, Serine/threonine-protein phosphatase 5, Serine/threonine-protein phosphatase PP1-gamma catalytic subunit