EYA1

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EYA1
Identifiers
Aliases EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs MGI: 109344 HomoloGene: 74943 GeneCards: 2138
Genetically Related Diseases
Disease Name References
chronic obstructive pulmonary disease
RNA expression pattern
PBB GE EYA1 214608 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252192
NM_010164
NM_001310459

RefSeq (protein)

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.[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]