EYA1: A Key Transcriptional Coactivator in Development and Disease
EYA1 gene, EYA transcriptional coactivator and phosphatase 1, BOR syndrome, branchio-oto-renal syndrome, ocular development
Gene Information Card
| Symbol | EYA1 |
|---|---|
| Full Name | EYA transcriptional coactivator and phosphatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.3 |
| NCBI Gene ID | 2138 ncbi.nlm.nih.gov/gene/2138 |
| Ensembl ID | ENSG00000104331 |
| UniProt ID | Q99502 |
| OMIM ID | 601653 |
| HGNC ID | 3519 |
| Aliases | BOP, BOR, BOS1, OFC1, DILP |
Description
The EYA1 gene encodes a member of the eyes absent (EYA) family of proteins, which function as transcriptional coactivators and possess intrinsic phosphatase activity. EYA1 is essential for embryonic development, particularly of the eye, ear, kidney, and branchial arches. It interacts with SIX and DACH proteins to regulate gene expression. Mutations in EYA1 cause branchio-oto-renal (BOR) syndrome and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Branchio-oto-renal (BOR) syndrome | Loss-of-function mutations in EYA1 disrupt transcriptional coactivation and phosphatase activity, impairing development of branchial arches, ear, and kidney. | ClinVar, OMIM |
| Branchio-otic (BO) syndrome | Similar mechanism as BOR but without renal involvement; heterozygous mutations in EYA1. | ClinVar, OMIM |
| Otofaciocervical syndrome type 1 | Missense and nonsense mutations in EYA1 affecting protein function. | OMIM |
| Congenital cataracts and ocular anomalies | Rare EYA1 variants linked to eye development defects. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Salivary gland | 10.8 | Medium |
| Thyroid | 9.2 | Medium |
| Lung | 6.4 | Low |
| Testis | 5.1 | Low |
| Brain (cerebellum) | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cell line |
| A549 | 8.7 | Lung carcinoma |
| HepG2 | 6.1 | Hepatocellular carcinoma |
| K562 | 4.5 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.889C>T (p.Arg297*) | Nonsense | Pathogenic (BOR syndrome) | Loss of function |
| c.1081C>T (p.Arg361Trp) | Missense | Pathogenic (BOR syndrome) | Loss of function |
| c.1141delC (p.Leu381Trpfs*19) | Frameshift | Pathogenic (BOR syndrome) | Loss of function |
| c.1645G>A (p.Gly549Arg) | Missense | Likely pathogenic | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most EYA1 mutations are loss-of-function (nonsense, frameshift, splice-site, missense) leading to haploinsufficiency, causing BOR/BO syndromes.
Gain of Function (GOF)
Not reported for EYA1 in germline diseases; rare somatic gain-of-function variants in cancer are unconfirmed.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type EYA1 protein complexes, though haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['EYA-SIX-DACH transcriptional regulatory network'
• 'Developmental signaling (eye
• ear
• kidney)']
• ['Retinal development pathway'
• 'Eye morphogenesis']
Protein Summary
EYA1 is a 592-amino acid protein (UniProt Q99502) containing a conserved C-terminal EYA domain (ED) with tyrosine phosphatase activity and an N-terminal transactivation domain. It shuttles between cytoplasm and nucleus. As a transcriptional coactivator, it binds SIX homeoproteins and DACH proteins to regulate target genes involved in organogenesis. The phosphatase domain dephosphorylates H2AX and other substrates, influencing DNA repair and apoptosis. EYA1 is critical for development of the eye, inner ear, kidney, and branchial arches.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EYA1 Knockout HEK293 Cell Line | EDJ-KQ2984 | Human | 2138 | Details Get a Quote |
| EYA1 Knockout HeLa Cell Line | EDJ-KQ24161 | Human | 2138 | Details Get a Quote |
| EYA1 Knockout A-549 Cell Line | EDJ-KQ61664 | Human | 2138 | Details Get a Quote |
| EYA1 Knockout HCT 116 Cell Line | EDJ-KQ70145 | Human | 2138 | Details Get a Quote |
