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Description for Protein EYA1

eyes absent homolog 1 (Drosophila)
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.1.3.48
KEGG - Orthology:
K01104
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
EC 3.1.3.48; BOP; BOR; MGC141875; Eyes absent 1 isoform b; Eyes absent 1 isoform a; Eyes absent 1 isoform c
Approved Symbol:
EYA1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Anterior segment anomalies(Pd);
  • Anterior segment anomalies and cataract(Pd);
  • Branchiootic syndrome 1(Pd);
  • Branchiootorenal syndrome 1(Pd);
  • Branchiootorenal syndrome with cataract(Pd);
  • Otofaciocervical syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03388 Entrez Gene ID: 2138 OMIM ID: 601653 Swissprot Accession: Q8WX80; Q99502;