EYA1 gene

EYA1
Identifiers
Aliases	EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs	MGI: 109344 HomoloGene: 74943 GeneCards: EYA1
Gene ontology Molecular function • phosphoprotein phosphatase activity • metal ion binding • protein binding • RNA binding • protein tyrosine phosphatase activity • hydrolase activity Cellular component • cytoplasm • protein complex • protein-DNA complex • nucleus • nucleoplasm • nuclear body 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 • histone dephosphorylation • multicellular organism development • ear morphogenesis • positive regulation of transcription, DNA-templated • cellular protein localization • branching involved in ureteric bud morphogenesis • cochlea morphogenesis • inner ear morphogenesis • establishment of mitotic spindle orientation • middle ear morphogenesis • animal organ morphogenesis • positive regulation of secondary heart field cardioblast proliferation • lung epithelial cell differentiation • establishment or maintenance of apical/basal cell polarity • peptidyl-tyrosine dephosphorylation • metanephros development • mesodermal cell fate specification • positive regulation of Notch signaling pathway • positive regulation of transcription from RNA polymerase II promoter • pharyngeal system development • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand • double-strand break repair • DNA repair • covalent chromatin modification • cell differentiation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2138	14048
Ensembl	ENSG00000104313	ENSMUSG00000025932
UniProt	Q99502	P97767
RefSeq (mRNA)	NM_000503 NM_001288574 NM_001288575 NM_172058 NM_172059 NM_172060	NM_001252192 NM_010164 NM_001310459
RefSeq (protein)	NP_000494 NP_001275503 NP_001275504 NP_742055 NP_742056 NP_742057	NP_001297388.1 NP_001239121 NP_001297388 NP_034294
Location (UCSC)	Chr 8: 71.2 – 71.36 Mb	Chr 1: 14.17 – 14.31 Mb
PubMed search

2138

14048

ENSG00000104313

ENSMUSG00000025932

Q99502

P97767

NM_172060

NM_001252192
NM_010164
NM_001310459

NP_742057

NP_001297388.1
NP_001239121
NP_001297388
NP_034294

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) family 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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