EYA1

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EYA transcriptional coactivator and phosphatase 1
Identifiers
Symbols EYA1 ; BOP; BOR; BOS1; OFC1
External IDs OMIM601653 MGI109344 HomoloGene74943 GeneCards: EYA1 Gene
EC number 3.1.3.16, 3.1.3.48
RNA expression pattern
PBB GE EYA1 214608 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2138 14048
Ensembl ENSG00000104313 ENSMUSG00000025932
UniProt Q99502 P97767
RefSeq (mRNA) NM_000503 NM_001252192
RefSeq (protein) NP_000494 NP_001239121
Location (UCSC) Chr 8:
72.11 – 72.27 Mb
Chr 1:
14.17 – 14.31 Mb
PubMed search [1] [2]

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.[1][2]

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.[2]

Interactions[edit]

EYA1 has been shown to interact with SIX1.[3]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)". 
  3. ^ 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]