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; 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]
Wikidata
View/Edit Human View/Edit Mouse

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

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]

Interactions

EYA1 has been shown to interact with SIX1. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000104313 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025932 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   28527865.
6. "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".
7. 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. 10 (24). England: 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. Bibcode:1990PNAS...87.1551S. 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. doi:10.1159/000484770. 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. S2CID   269908.
• 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. S2CID   26027737.
• 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. S2CID   20398554.
• 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. doi:10.1128/mcb.19.10.6815. 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. S2CID   8451069.
• 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. doi:10.1242/dev.129.13.3033. PMC   3873877 . 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. S2CID   42497614.
• 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. S2CID   24399383.