Eyes absent homolog 1

EYA1
Identifiers
Aliases	EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs	OMIM: 601653 MGI: 109344 HomoloGene: 74943 GeneCards: EYA1
Gene location (Human)
Chr.	Chromosome 8 (human)
End	71,592,025 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	14,380,459 bp
RNA expression pattern
	Top expressed in
	urethra; ; putamen; ; pituitary gland; ; bronchial epithelial cell; ; caudate nucleus; ; anterior pituitary; ; periodontal fiber; ; nucleus accumbens; ; prostate; ; secondary oocyte;
	Top expressed in
	iris; ; maxillary prominence; ; ciliary body; ; vas deferens; ; nose; ; olfactory epithelium; ; sternocleidomastoid muscle; ; triceps brachii muscle; ; temporal muscle; ; digastric muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphoprotein phosphatase activity; metal ion binding; protein binding; RNA binding; protein tyrosine phosphatase activity; hydrolase activity;
Cellular component	cytoplasm; protein-DNA complex; nucleus; nucleoplasm; nuclear body; protein-containing complex;
Biological process	pattern specification process; response to ionizing radiation; regulation of neuron differentiation; embryonic skeletal system morphogenesis; ureteric bud development; cell fate commitment; striated muscle tissue development; semicircular canal morphogenesis; regulation of transcription, DNA-templated; anatomical structure development; positive regulation of epithelial cell proliferation; neuron fate specification; anatomical structure morphogenesis; positive regulation of DNA repair; protein dephosphorylation; outflow tract morphogenesis; otic vesicle morphogenesis; outer ear morphogenesis; sensory perception of sound; aorta morphogenesis; protein sumoylation; transcription, DNA-templated; otic vesicle development; cellular response to DNA damage stimulus; multicellular organism development; ear morphogenesis; positive regulation of transcription, DNA-templated; branching involved in ureteric bud morphogenesis; cochlea morphogenesis; inner ear morphogenesis; middle ear morphogenesis; animal organ morphogenesis; positive regulation of secondary heart field cardioblast proliferation; peptidyl-tyrosine dephosphorylation; metanephros development; mesodermal cell fate specification; positive regulation of transcription by RNA polymerase II; pharyngeal system development; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; double-strand break repair; DNA repair; cell differentiation; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	2138
	14048
	ENSG00000104313
	ENSMUSG00000025932
	Q99502
	P97767
NM_000503; NM_001288574; NM_001288575; NM_172058; NM_172059;
	NM_172060; NM_001370333; NM_001370334; NM_001370335; NM_001370336
	NM_001252192; NM_010164; NM_001310459
NP_000494; NP_001275503; NP_001275504; NP_742055; NP_742056;
	NP_001357262; NP_001357263; NP_001357264; NP_001357265
NP_001239121; NP_001297388; NP_034294; NP_001389588; NP_001389589;
	NP_001389590; NP_001389591
	Wikidata
View/Edit Human	View/Edit Mouse

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.

This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene.

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