Gene
eya1
- ID
- ZDB-GENE-990712-18
- Name
- EYA transcriptional coactivator and phosphatase 1
- Symbol
- eya1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within adenohypophysis development; otic vesicle morphogenesis; and otolith development. Predicted to be active in nucleus. Is expressed in several structures, including adenohypophyseal placode; brain; ectoderm; head; and lateral line system. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 73 figures from 49 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| branchiootic syndrome | Alliance | Anterior segment anomalies with or without cataract | 602588 |
| branchiootic syndrome | Alliance | Branchiootic syndrome 1 | 602588 |
| branchiootorenal syndrome 1 | Alliance | Branchiootorenal syndrome 1, with or without cataracts | 113650 |
| ?Otofaciocervical syndrome | 166780 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EYA domain | EYA domain, metazoan | EYA domain superfamily | Eyes absent family |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZ17
|
592 | ||||
|
UniProtKB:A0A8M2B9H5
|
586 | ||||
|
UniProtKB:A0A8M3AP55
|
613 | ||||
|
UniProtKB:A0A8M6YVK2
|
614 | ||||
|
UniProtKB:Q6DBY3
|
587 | ||||
|
UniProtKB:Q9W6E8
|
609 |
Interactions and Pathways
No data available
Plasmids
No data available