Property Summary

NCBI Gene PubMed Count 67
PubMed Score 108.42
PubTator Score 109.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma 2.100 1.3e-02
oligodendroglioma 2.000 8.9e-03
adult high grade glioma 1.600 7.7e-03
sonic hedgehog group medulloblastoma 3.500 7.9e-05
lung carcinoma -1.100 1.2e-03

Protein-protein Interaction (11)

Gene RIF (35)

PMID Text
25926005 Our findings implicate this EYA1 partial duplication segregating with branchiootic phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the Branchiootorenal syndrome/BO syndrom
25780253 we proved that the branchiooto (BO) syndrome in these cases was caused by germinal mosaicism of the EYA1 gene in either the mother or father.
25640282 Association between EYA1 three SNPs and NSOCs and suggested that maternal environmental tobacco smoke, common cold history, and alcohol consumption.
24954506 PI3K/Akt signaling enhances Eya1 transcription activity, which largely attributes to the phosphorylation-induced reduction of Eya1 SUMOylation.
24730701 Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.[review]
24729159 Low EYA1 expression is associated with gastric carcinoma.
23840632 Novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.
23636126 The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter.
23601008 results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and nonsyndromic orofacial clefts.
23506628 A novel EYA1 splice site mutation was found to be associated with Branchio-Oto-Renal Syndrome and focal glomerulosclerosis.
23263983 EYA1 is efficiently degraded during mitotic exit in a ANAPC1-dependent manner and these two proteins physically interact.
22447252 Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome.
21955869 A 23 year old woman with Branchio-oto-renal syndrome presented with a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene.
21280147 Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5.
20979191 This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome.
20956555 Data report the identification of the related proteins Sipl1 (Shank-interacting protein-like 1) and Rbck1 (RBCC protein interacting with PKC1) as novel interaction partners of Eya1.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20209935 Hypomethylation of EYA1 in microtia may be related to the pathogenesis of the disease.
19789318 miR-562 expression is reduced in Wilms' tumor and may contribute to tumorigenesis by deregulating target gene EYA1.
19667416 A novel one-base-pair deletion in the EYA1 gene, resulting in a truncated protein (c.321delT; p.Ala107fs), was found in Korean males with Branchio-oto-renal syndrome.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19213029 Familial transmission of Goldenhar syndrome is not due to mutations in EYA1.
19206155 A mutation suggests that certain transcripts of EYA1 escape nonsense-mediated decay and encode truncated EYA proteins that may be capable of dominant-negative interactions producing distinct phenotypic features within the BOR spectrum.
18220287 EYA1 mutations were found in 31% of families fitting established clinical criteria for branchio-oto-renal syndrome (BOR) and 7% of families with questionable BOR phenotype
18065799 results indicate that mutations in EYA1 and TCF2 rarely result in an isolated Congenital anomalies of the kidney and urinary tract (CAKUT) phenotype.
17637804 Four EYA1 mutations provide a molecular diagnosis of branchio-oto-renal syndrome in five out of six Danish families.
17049623 We report a second Korean family with branchio-oto-renal syndrome with a novel nonsense EYA1 mutation
16691597 A novel EYA1 mutation was identified in a newborn with laryngomalacia, glossoptosis, retrognathism, and funnel chest.
16441263 Point mutations altering the EYA1 reading frame, can be found in patients with oto-facio-cervical syndrome.
16005355 Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene.
15493068 EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.
15141091 three Six1 mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding
12701758 These results suggest that the S189G mutation is a candidate mutation for Branchio-Oto syndrome.
11950062 Defective protein-protein interactions of mutations in the EYA domain underlie brachio-oto-renal syndrome.
11683347 Mutations in the EYA1 gene have been identified in both branchio-oto and branchio-oto-renal syndromes.

AA Sequence

MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIG      1 - 70
SSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYG     71 - 140
ALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNS    141 - 210
SQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTI    211 - 280
HSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGR    281 - 350
DPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL    351 - 420
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIH    421 - 490
SRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE    491 - 560
EQGAKKHAMPFWRISSHSDLMALHHALELEYL                                          561 - 592
//

Text Mined References (68)

PMID Year Title
25926005 2015 Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
25780253 2015 Germinal mosaicism in a family with BO syndrome.
25640282 2015 Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese.
25108383 2014 Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
24954506 2015 The PI3K/Akt signal hyperactivates Eya1 via the SUMOylation pathway.
24730701 2014 Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
24729159 2014 EYA1 expression in gastric carcinoma and its association with clinicopathological characteristics: a pilot study.
24688116 2014 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
23840632 2013 Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23636126 2013 EYA1 phosphatase function is essential to drive breast cancer cell proliferation through cyclin D1.
23601008 2013 Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese.
23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23506628 2013 Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
23263983 2013 The phosphatase-transcription activator EYA1 is targeted by anaphase-promoting complex/Cdh1 for degradation at M-to-G1 transition.
23144326 2012 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
22447252 2012 Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
21955869 2011 Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.
21280147 2011 Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
20979191 2010 HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
20956555 2010 Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20209935 2009 [Study of methylation of promoter of EYA1 gene in microtia].
19789318 2009 Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
19667416 2009 A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.
19497856 2009 Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19234442 2009 Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions.
19213029 2009 Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.
19206155 2009 A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.
18220287 2008 Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
18065799 2008 Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.
17903308 2007 Genome-wide association of sleep and circadian phenotypes.
17637804 2007 Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
17049623 2007 Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.
16797546 2006 Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity.
16691597 2006 Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
16441263 2006 Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16005355 2005 Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.
15493068 EYA1 mutation in a newborn female presenting with cardiofacial syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15226428 2004 Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype.
15141091 2004 SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
12874121 2003 The role of Six1 in mammalian auditory system development.
12701758 2003 Mutation of the EYA1 gene in patients with branchio-oto syndrome.
12500905 2002 Six and Eya expression during human somitogenesis and MyoD gene family activation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12404110 2002 Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.
12070080 2002 Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid.
11950062 2002 Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins.
11734542 2001 Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.
11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.
11409867 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.
10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.
10490620 1999 Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya.
10464653 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
9853969 1998 Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome.
9603436 1998 Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
9428512 1997 The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development.
9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
9359046 BOR and BO syndromes are allelic defects of EYA1.
9020840 1997 A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
2154751 1990 Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.