InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EYA1

Summary

InnateDB Protein

IDBP-25020.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EYA1

Protein Name

eyes absent homolog 1 (Drosophila)

Synonyms

BOP; BOR; BOS1; OFC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000373394

InnateDB Gene

IDBG-25014 (EYA1)

Protein Structure

UniProt Annotation

Function

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. 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. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2. {ECO:0000269PubMed:19234442}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).

Disease Associations

Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269PubMed:10464653, ECO:0000269PubMed:10655545, ECO:0000269PubMed:10991693, ECO:0000269PubMed:11558900, ECO:0000269PubMed:21280147, ECO:0000269PubMed:9361030}. Note=The disease is caused by mutations affecting the gene represented in this entry.Otofaciocervical syndrome 1 (OFC1) [MIM:166780]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. {ECO:0000269PubMed:11409867, ECO:0000269PubMed:16441263}. Note=The disease is caused by mutations affecting the gene represented in this entry.Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269PubMed:12701758, ECO:0000269PubMed:16691597, ECO:0000269PubMed:9359046}. Note=The disease is caused by mutations affecting the gene represented in this entry.Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. {ECO:0000269PubMed:10655545}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	15 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006302	double-strand break repair
GO:0006351	transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0007605	sensory perception of sound
GO:0009653	anatomical structure morphogenesis
GO:0010212	response to ionizing radiation
GO:0016576	histone dephosphorylation
GO:0016925	protein sumoylation
GO:0045739	positive regulation of DNA repair