Eya1 Gene Summary [Mouse]
Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of DNA-templated transcription; and protein sumoylation. Acts upstream of or within several processes, including embryonic organ morphogenesis; kidney development; and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Eya1 |
| Official Name | EYA transcriptional coactivator and phosphatase 1 [Source:MGI Symbol;Acc:MGI:109344] |
| Ensembl ID | ENSMUSG00000025932 |
| Bio databases IDs | |
| Aliases | EYA transcriptional coactivator and phosphatase 1 |
| Synonyms | BOP, BOR, BOS1, EYA transcriptional coactivator and phosphatase 1, LOC108350919, OFC1, OTFCS, RP11-1102P16.1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Eya1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein-tyrosine-phoshatase
- protein phosphatase
- Pst domain
- phosphatase
- Eya domain
- enzyme
- protein binding
- Haloacid Dehalogenase-like Hydrolases
- RNA binding
- haloacid dehalogenase-like hydrolase
- eyes absent protein conserved domain
Pathways
Biological processes and signaling networks where the Eya1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetic nephropathy
- branchio-oto-renal syndrome
- COVID-19
- otofaciocervical syndrome
- branchiootic syndrome type 1
- anterior segment anomalies
- peptic ulcer disease
- hypoplasia
- chronic obstructive pulmonary disease
phenotypes
- abnormal auditory brainstem response
- abnormal body wall morphology
- abnormal embryo size
- abnormal facial morphology
- abnormal head shape
- abnormal kidney morphology
- abnormal outer ear morphology
- preweaning lethality incomplete penetrance
- abnormal aortic arch morphology
- abnormal basisphenoid bone morphology
- abnormal cardiovascular development
- abnormal cell differentiation
- abnormal cochlea morphology
- abnormal cochlear ganglion morphology
- abnormal common crus morphology
- abnormal craniofacial development
- abnormal cranium morphology
- abnormal endolymphatic duct morphology
- abnormal external auditory canal morphology
- abnormal facial nerve morphology
- abnormal first pharyngeal pouch morphology
- abnormal geniculate ganglion morphology
- abnormal hyoid bone lesser horn morphology
- abnormal hyoid bone morphology
- abnormal incus morphology
- abnormal inner ear morphology
- abnormal ischium morphology
- abnormal jaw morphology
- abnormal lateral semicircular canal morphology
- abnormal lung epithelium morphology
- abnormal middle ear ossicle morphology
- abnormal mitotic spindle morphology
- abnormal orientation of cochlear hair cell stereociliary bundles
- abnormal otic vesicle development
- abnormal palate development
- abnormal posterior semicircular canal morphology
- abnormal pterygoid process morphology
- abnormal pubis morphology
- abnormal semicircular canal ampulla morphology
- abnormal semicircular canal morphology
- abnormal skeletal muscle morphology
- abnormal stapes morphology
- abnormal sternocostal joint morphology
- abnormal temporal bone morphology
- abnormal thyroid cartilage morphology
- abnormal tympanic membrane morphology
- abnormal utricle morphology
- abnormal vestibular labyrinth morphology
- abnormal vestibular saccule morphology
- abnormal vestibulocochlear nerve morphology
- abnormal zygomatic bone morphology
- absent auditory bulla
- absent cochlea
- absent endolymphatic duct
- absent external auditory canal
- absent inner ear
- absent inner ear vestibule
- absent kidney
- absent lateral semicircular canal
- absent malleus processus brevis
- absent maxilla
- absent organ of Corti
- absent outer ear
- absent parathyroid glands
- absent petrosal ganglion
- absent posterior semicircular canal
- absent premaxilla
- absent stapes
- absent thyroid gland isthmus
- absent tympanic cavity
- absent ureter
- absent ureteric bud
- absent vestibular ganglion
- absent vestibular saccule
- anotia
- athymia
- cervical vertebral fusion
- circling
- cleft secondary palate
- cochlear ganglion degeneration
- conductive hearing loss
- deafness
- decreased cochlear coiling
- decreased lateral semicircular canal size
- decreased maxillary shelf size
- decreased otic epithelial cell proliferation
- decreased outer hair cell stereocilia number
- decreased palatine bone horizontal plate size
- decreased posterior semicircular canal size
- decreased superior semicircular canal size
- decreased tympanic ring size
- decreased vestibular hair cell number
- eyelids open at birth
- female infertility
- fusion of middle ear ossicles
- head bobbing
- increased blood urea nitrogen level
- increased cochlear inner hair cell number
- increased cochlear outer hair cell number
- increased metanephric mesenchyme apoptosis
- increased or absent threshold for auditory brainstem response
- increased otic epithelial cell apoptosis
- interrupted aortic arch
- large nasal septum
- mandible hypoplasia
- microcephaly
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- perinatal lethality incomplete penetrance
- persistent ultimobranchial bodies
- preauricular pit
- renal hypoplasia
- retroesophageal right subclavian artery
- rib fusion
- short endolymphatic duct
- single kidney
- small cranium
- small lung
- small otic vesicle
- thyroid gland hypoplasia
- vascular ring
role in cell
- expression in
- apoptosis
- proliferation
- survival
- number
- migration
- differentiation
- commitment
- binding in
- ubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Eya1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein sumoylation
- outflow tract morphogenesis
- outer ear morphogenesis
- anatomical structure development
- middle ear morphogenesis
- anatomical structure morphogenesis
- regulation of neuron differentiation
- extrinsic apoptotic signaling pathway in absence of ligand
- positive regulation of transcription from RNA polymerase II promoter
- double-strand break repair
- sensory perception of sound
- chromatin remodeling
- epithelial cell proliferation
- neuron fate specification
- positive regulation of epithelial cell proliferation
- response to ionizing radiation
- positive regulation of DNA repair
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- cochlea morphogenesis
- pattern specification process
- pharyngeal system development
- embryonic skeletal system morphogenesis
- mesodermal cell fate specification
- aorta morphogenesis
- metanephros development
- semicircular canal morphogenesis
- branching involved in ureteric bud morphogenesis
- striated muscle tissue development
- otic vesicle morphogenesis
- cell differentiation
- positive regulation of secondary heart field cardioblast proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasm
- protein-DNA complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- metal ion binding
- protein tyrosine phosphatase activity
- myosin phosphatase activity