AlphaFold predicted structure
EYA1 · Q99502
Mean pLDDT
65.7/ 100
Low
592 residues
Confidence breakdown
- Very high(≥ 90)43%
- Confident(70–90)2%
- Low(50–70)4%
- Very low(< 50)51%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
EYA1
Chr 8q13.3EYA transcriptional coactivator and phosphatase 1
- MANE:
- ENST00000340726.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDeafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
BOR syndrome
0.84branchio-oto-renal syndrome
0.69branchiootic syndrome 1
0.69otofaciocervical syndrome 1
0.67otofaciocervical syndrome
0.64Branchio-otic syndrome
0.62neurodegenerative disease
0.54Rare genetic deafness
0.53hereditary disease
0.47branchiooculofacial syndrome
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein phosphatase EYA1
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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). Also has phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity)
Diseases associated with EYA1
Curated MONDO disease pages that list EYA1 among their top associated genes.