InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Eya1

Summary

InnateDB Protein

IDBP-134458.6

Last Modified

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

Gene Symbol

Eya1

Protein Name

eyes absent 1 homolog (Drosophila)

Synonyms

bor;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000027066

InnateDB Gene

IDBG-134456 (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:10471511, ECO:0000269PubMed:10490620, ECO:0000269PubMed:14628042, ECO:0000269PubMed:19234442}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000250}.

Disease Associations

Note=A spontaneous mutation leading to decreased Eya1 expression gives rise to the Eya1-bor phenotype. It is characterized by circling behavior and deafness, due to gross morphological abnormalities of the inner ear, and dysmorphic or missing kidneys. This autosomal recessive trait resembles human branchio-oto-renal (BOR) syndrome. {ECO:0000269PubMed:10072433}.

Tissue Specificity

Extensively expressed in cranial placodes, branchial arches, CNS and developing eye and nose.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	6 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0000132	establishment of mitotic spindle orientation
GO:0001656	metanephros development
GO:0001657	ureteric bud development
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0003151	outflow tract morphogenesis
GO:0006302	double-strand break repair
GO:0006351	transcription, DNA-templated
GO:0006470	protein dephosphorylation
GO:0007275	multicellular organismal development
GO:0007389	pattern specification process
GO:0007501	mesodermal cell fate specification
GO:0009887	organ morphogenesis
GO:0010212	response to ionizing radiation
GO:0014706	striated muscle tissue development
GO:0016576	histone dephosphorylation
GO:0016925	protein sumoylation
GO:0034613	cellular protein localization
GO:0035088	establishment or maintenance of apical/basal cell polarity
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0035909	aorta morphogenesis
GO:0042472	inner ear morphogenesis
GO:0042473	outer ear morphogenesis
GO:0042474	middle ear morphogenesis
GO:0045165	cell fate commitment
GO:0045664	regulation of neuron differentiation
GO:0045739	positive regulation of DNA repair
GO:0045747	positive regulation of Notch signaling pathway
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048665	neuron fate specification
GO:0048704	embryonic skeletal system morphogenesis
GO:0048752	semicircular canal morphogenesis
GO:0048856	anatomical structure development
GO:0050679	positive regulation of epithelial cell proliferation
GO:0060037	pharyngeal system development
GO:0060487	lung epithelial cell differentiation
GO:0071599	otic vesicle development
GO:0071600	otic vesicle morphogenesis
GO:0072513	positive regulation of secondary heart field cardioblast proliferation
GO:0090103	cochlea morphogenesis
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand