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; OMA:EYA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104313Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025932Ensembl, 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. 10 (24). England: 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.

Further reading

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