Eyes absent homolog 1

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.^[5][6]

AliasesEYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1

External IDsOMIM: 601653; MGI: 109344; HomoloGene: 74943; GeneCards: EYA1; OMA:EYA1 - orthologs

Chr.Chromosome 8 (human)^[1]

End71,592,025 bp^[1]

Quick facts EYA1, Identifiers ...

EYA1
Identifiers
Aliases	EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs	OMIM: 601653; MGI: 109344; HomoloGene: 74943; GeneCards: EYA1; OMA:EYA1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q13.3 Start 71,197,433 bp[1] End 71,592,025 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 A3|1 4.31 cM Start 14,239,178 bp[2] End 14,380,459 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus urethra mucosa of paranasal sinus olfactory zone of nasal mucosa putamen pituitary gland bronchial epithelial cell caudate nucleus anterior pituitary periodontal fiber Top expressed in vestibular sensory epithelium genital tubercle iris maxillary prominence ciliary body vestibular membrane of cochlear duct vas deferens nose olfactory epithelium nasal placode More reference expression data BioGPS 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 hearing 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 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_001370333 NM_001370334 NM_001370335 NM_001370336 NM_001252192 NM_010164 NM_001310459 RefSeq (protein) 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 Location (UCSC) Chr 8: 71.2 – 71.59 Mb Chr 1: 14.24 – 14.38 Mb PubMed search [3] [4]
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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.^[6]