EYA1

EYA transcriptional coactivator and phosphatase 1
Identifiers
Symbols	EYA1 ; BOP; BOR; BOS1; OFC1
External IDs	OMIM: 601653 MGI: 109344 HomoloGene: 74943 GeneCards: EYA1 Gene
EC number	3.1.3.16, 3.1.3.48
Gene ontology Molecular function • RNA binding • protein tyrosine phosphatase activity • protein binding • metal ion binding Cellular component • nucleus • cytoplasm Biological process • establishment of mitotic spindle orientation • metanephros development • branching involved in ureteric bud morphogenesis • outflow tract morphogenesis • double-strand break repair • transcription, DNA-templated • pattern specification process • sensory perception of sound • anatomical structure morphogenesis • response to ionizing radiation • striated muscle tissue development • histone dephosphorylation • protein sumoylation • cellular protein localization • establishment or maintenance of apical/basal cell polarity • peptidyl-tyrosine dephosphorylation • aorta morphogenesis • outer ear morphogenesis • middle ear morphogenesis • regulation of neuron differentiation • positive regulation of DNA repair • positive regulation of Notch signaling pathway • positive regulation of transcription from RNA polymerase II promoter • neuron fate specification • embryonic skeletal system morphogenesis • semicircular canal morphogenesis • positive regulation of epithelial cell proliferation • pharyngeal system development • lung epithelial cell differentiation • otic vesicle morphogenesis • positive regulation of secondary heart field cardioblast proliferation • cochlea morphogenesis • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand 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_001252192
RefSeq (protein)	NP_000494	NP_001239121
Location (UCSC)	Chr 8: 71.2 – 71.36 Mb	Chr 1: 14.17 – 14.31 Mb
PubMed search

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.^[1][2]

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.^[2]

Interactions

EYA1 has been shown to interact with SIX1.^[3]

References

1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (Mar 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet 15 (2): 157–64. doi:10.1038/ng0297-157. PMID 9020840.
2. "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".
3. Buller, C; Xu X; Marquis V; Schwanke R; Xu P X (Nov 2001). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. (England) 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.

Further reading

• Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990). "Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements". Proc. Natl. Acad. Sci. U.S.A. 87 (4): 1551–5. doi:10.1073/pnas.87.4.1551. PMC 53513. PMID 2154751.
• Vincent C, Kalatzis V, Abdelhak S; et al. (1998). "BOR and BO syndromes are allelic defects of EYA1". Eur. J. Hum. Genet. 5 (4): 242–6. PMID 9359046.
• Abdelhak S, Kalatzis V, Heilig R; et al. (1998). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1". Hum. Mol. Genet. 6 (13): 2247–55. doi:10.1093/hmg/6.13.2247. PMID 9361030.
• Pignoni F, Hu B, Zavitz KH; et al. (1998). "The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development". Cell 91 (7): 881–91. doi:10.1016/S0092-8674(00)80480-8. PMID 9428512.
• Kumar S, Kimberling WJ, Weston MD; et al. (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Hum. Mutat. 11 (6): 443–9. doi:10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S. PMID 9603436.
• Kalatzis V, Sahly I, El-Amraoui A, Petit C (1999). "Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome". Dev. Dyn. 213 (4): 486–99. doi:10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L. PMID 9853969.
• Kumar S, Deffenbacher K, Cremers CW; et al. (1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genet. Test. 1 (4): 243–51. doi:10.1089/gte.1997.1.243. PMID 10464653.
• Ohto H, Kamada S, Tago K; et al. (1999). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya". Mol. Cell. Biol. 19 (10): 6815–24. PMC 84678. PMID 10490620.
• Azuma N, Hirakiyama A, Inoue T; et al. (2000). "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies". Hum. Mol. Genet. 9 (3): 363–6. doi:10.1093/hmg/9.3.363. PMID 10655545.
• Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M (2000). "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes". J. Med. Genet. 37 (8): 623–7. doi:10.1136/jmg.37.8.623. PMC 1734672. PMID 10991693.
• Rickard S, Parker M, van't Hoff W; et al. (2001). "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM". Hum. Genet. 108 (5): 398–403. doi:10.1007/s004390100495. PMID 11409867.
• Namba A, Abe S, Shinkawa H; et al. (2001). "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis". J. Hum. Genet. 46 (9): 518–21. doi:10.1007/s100380170033. PMID 11558900.
• Fukuda S, Kuroda T, Chida E; et al. (2002). "A family affected by branchio-oto syndrome with EYA1 mutations". Auris Nasus Larynx. 28 Suppl: S7–11. doi:10.1016/s0385-8146(01)00082-7. PMID 11683347.
• Buller C, Xu X, Marquis V; et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID 11734542.
• Ozaki H, Watanabe Y, Ikeda K, Kawakami K (2002). "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins". J. Hum. Genet. 47 (3): 107–16. doi:10.1007/s100380200011. PMID 11950062.
• Xu PX, Zheng W, Laclef C; et al. (2002). "Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid". Development 129 (13): 3033–44. PMID 12070080.
• Vervoort VS, Smith RJ, O'Brien J; et al. (2003). "Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome". Eur. J. Hum. Genet. 10 (11): 757–66. doi:10.1038/sj.ejhg.5200877. PMID 12404110.
• Fougerousse F, Durand M, Lopez S; et al. (2003). "Six and Eya expression during human somitogenesis and MyoD gene family activation". J. Muscle Res. Cell. Motil. 23 (3): 255–64. doi:10.1023/A:1020990825644. PMID 12500905.
• Yashima T, Noguchi Y, Ishikawa K; et al. (2003). "Mutation of the EYA1 gene in patients with branchio-oto syndrome". Acta Otolaryngol. 123 (2): 279–82. doi:10.1080/0036554021000028103. PMID 12701758.