Eyes absent homolog 1

Last updated
EYA1
Identifiers
Aliases EYA1 , BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
External IDs OMIM: 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 Mb Chr 1: 14.24 – 14.38 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

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

Related Research Articles

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<span class="mw-page-title-main">Branchio-oto-renal syndrome</span> Medical condition

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<span class="mw-page-title-main">Eyes absent homolog 2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Shrawan Kumar (geneticist)</span>

Shrawan Kumar, is an Indian-American geneticist, working in the fields of molecular and population genetics. He contributed to the discovery of two genes related to Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2).

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104313 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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