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Eyes absent homolog 1

August 25, 2023

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

EYA1
Identifiers
AliasesEYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDsOMIM: 601653 MGI: 109344 HomoloGene: 74943 GeneCards: EYA1
Orthologs
SpeciesHumanMouse
Entrez

2138

14048

Ensembl

ENSG00000104313

ENSMUSG00000025932

UniProt

Q99502

P97767

RefSeq (mRNA)

NM_001252192
NM_010164
NM_001310459

RefSeq (protein)
Location (UCSC)Chr 8: 71.2 – 71.59 MbChr 1: 14.24 – 14.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 Edit

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

References Edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104313 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. England. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.

Further reading Edit

  • 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.
 

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

August 25, 2023
eyes, absent, homolog, protein, that, humans, encoded, eya1, gene, eya1identifiersaliaseseya1, bos1, ofc1, transcriptional, coactivator, phosphatase, 1external, idsomim, 601653, 109344, homologene, 74943, genecards, eya1gene, location, human, chromosome, human. Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene 5 6 EYA1IdentifiersAliasesEYA1 BOP BOR BOS1 OFC1 EYA transcriptional coactivator and phosphatase 1External IDsOMIM 601653 MGI 109344 HomoloGene 74943 GeneCards EYA1Gene location Human Chr Chromosome 8 human 1 Band8q13 3Start71 197 433 bp 1 End71 592 025 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 A3 1 4 31 cMStart14 239 178 bp 2 End14 380 459 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inurethraputamenpituitary glandbronchial epithelial cellcaudate nucleusanterior pituitaryperiodontal fibernucleus accumbensprostatesecondary oocyteTop expressed inirismaxillary prominenceciliary bodyvas deferensnoseolfactory epitheliumsternocleidomastoid muscletriceps brachii muscletemporal muscledigastric muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionphosphoprotein phosphatase activity metal ion binding protein binding RNA binding protein tyrosine phosphatase activity hydrolase activityCellular componentcytoplasm protein DNA complex nucleus nucleoplasm nuclear body protein containing complexBiological processpattern 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 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 organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez213814048EnsemblENSG00000104313ENSMUSG00000025932UniProtQ99502P97767RefSeq mRNA NM 000503NM 001288574NM 001288575NM 172058NM 172059NM 172060NM 001370333NM 001370334NM 001370335NM 001370336NM 001252192NM 010164NM 001310459RefSeq protein NP 000494NP 001275503NP 001275504NP 742055NP 742056NP 001357262NP 001357263NP 001357264NP 001357265NP 001239121NP 001297388NP 034294NP 001389588NP 001389589NP 001389590NP 001389591Location UCSC Chr 8 71 2 71 59 MbChr 1 14 24 14 38 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThis 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 EditEYA1 has been shown to interact with SIX1 7 References Edit a b c GRCh38 Ensembl release 89 ENSG00000104313 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025932 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b 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 Further reading EditStoppa 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 lt 443 AID HUMU4 gt 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 lt 486 AID AJA13 gt 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 This article on a gene on human chromosome 8 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Eyes absent homolog 1 amp oldid 1170368099, wikipedia, wiki, book, books, library,

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