EYA1

Identifiers

EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1

External IDs

MGI: 109344 HomoloGene: 74943 GeneCards: EYA1

Genetically Related Diseases

chronic obstructive pulmonary disease^[1]

Gene ontology
Molecular function	• phosphoprotein phosphatase activity • metal ion binding • protein binding • RNA binding • protein tyrosine phosphatase activity • hydrolase activity
Cellular component	• cytoplasm • nucleoplasm • protein complex • protein-DNA complex • nucleus
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_000494.2 NP_001275503.1 NP_001275504.1 NP_742055.1 NP_742056.1
NP_742057.1


NP_001297388.1

Location (UCSC)

Chr 8: 71.2 – 71.36 Mb

Chr 1: 14.17 – 14.31 Mb

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.^[4]^[5]

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.^[5]

Interactions

EYA1 has been shown to interact with SIX1.^[6]

References

↑ "Diseases that are genetically associated with EYA1 view/edit references on wikidata".
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
1 2 "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".
↑ 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.

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. 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.
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.

Esterase: protein tyrosine phosphatases (EC 3.1.3.48)

Class I

Classical PTPs

Receptor type PTPs	PTPRA PTPRB PTPRC PTPRD PTPRE PTPRF PTPRG PTPRH PTPRJ PTPRK PTPRM PTPRN PTPRN2 PTPRO PTPRQ PTPRR PTPRS PTPRT PTPRU PTPRZ1 PTPRZ2

Non receptor type PTPs	PTPN1 PTPN2 PTPN3 PTPN4 PTPN5 PTPN6 PTPN7 PTPN9 PTPN11 PTPN12 PTPN13 PTPN14 PTPN18 PTPN20 PTPN21 PTPN22 PTPN23

VH1-like or
dual specific
phosphatases
(DSPs)

MAPK phosphatases (MKPs)	DUSP1 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 DUSP10 DUSP16 MK-STYX

Slingshots	SSH1 SSH2 SSH3

PRLs	PTP4A1 PTP4A2 PTP4A3

CDC14s	CDC14A CDC14B CDKN3 PTP9Q22

Atypical DSPs	DUSP3 DUSP11 DUSP12 DUSP13A DUSP13B DUSP14 DUSP15 DUSP18 DUSP19 DUSP21 DUSP22 DUSP23 DUSP24 DUSP25 DUSP26 DUSP27 EMP2A RNGTT STYX

Phosphatase and tensin homologs (PTENs)	PTEN TPIP TPTE TNS TENC1

Myotubularins	MTM1 MTMR2 MTMR3 MTMR4 MTMR5 MTMR6 MTMR7 MTMR8 MTMR9 MTMR10 MTMR11 MTMR12 MTMR13 MTMR14 MTMR15

Class II

ACP1

Class III

Cdc25
- CDC25A
- CDC25B
- CDC25C

Class IV

EYA1
EYA2
EYA3
EYA4

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EYA1

Interactions

References

Further reading