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; ectoderm; head; mesoderm pectoral fin bud; and nervous 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
- 78 figures from 54 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 | Additional Resources | Length | EYA domain | EYA domain, metazoan | EYA domain superfamily | Protein phosphatase EYA |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AZ17 | InterPro | 592 | ||||
| UniProtKB:A0A8M2B9H5 | InterPro | 586 | ||||
| UniProtKB:A0A8M3AP55 | InterPro | 613 | ||||
| UniProtKB:A0A8M6YVK2 | InterPro | 614 | ||||
| UniProtKB:Q6DBY3 | InterPro | 587 | ||||
| UniProtKB:Q9W6E8 | InterPro | 609 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
eya1-201
(1)
|
Ensembl | 2,179 nt | ||
| mRNA |
eya1-202
(1)
|
Ensembl | 4,414 nt | ||
| mRNA |
eya1-203
(1)
|
Ensembl | 2,229 nt | ||
| mRNA |
eya1-204
(1)
|
Ensembl | 4,447 nt | ||
| mRNA |
eya1-206
(1)
|
Ensembl | 723 nt | ||
| mRNA |
eya1-207
(1)
|
Ensembl | 1,926 nt | ||
| ncRNA |
eya1-003
(1)
|
Ensembl | 778 nt |
Interactions and Pathways
No data available
Plasmids
No data available