EYA1

EYA1
Identifiers
Aliases EYA1, BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs MGI: 109344 HomoloGene: 74943 GeneCards: EYA1
Genetically Related Diseases
chronic obstructive pulmonary disease[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

2138

14048

Ensembl

ENSG00000104313

ENSMUSG00000025932

UniProt

Q99502

P97767

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 HumanView/Edit Mouse

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.[4][5]

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.[5]

Interactions

EYA1 has been shown to interact with SIX1.[6]

References

  1. "Diseases that are genetically associated with EYA1 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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.
  5. 1 2 "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".
  6. 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


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