Version 5.4
Homo sapiens Gene: EYA1
Summary
InnateDB Gene IDBG-25014.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EYA1
Gene Name eyes absent homolog 1 (Drosophila)
Synonyms BOP; BOR; BOS1; OFC1
Species Homo sapiens
Ensembl Gene ENSG00000104313
Encoded Proteins
IDBP-25016
eyes absent homolog 1 (Drosophila)
IDBP-25018
eyes absent homolog 1 (Drosophila)
IDBP-25020
eyes absent homolog 1 (Drosophila)
IDBP-25022
eyes absent homolog 1 (Drosophila)
IDBP-25026
eyes absent homolog 1 (Drosophila)
IDBP-25028
eyes absent homolog 1 (Drosophila)
IDBP-372415
eyes absent homolog 1 (Drosophila)
IDBP-484470
eyes absent homolog 1 (Drosophila)
IDBP-479374
eyes absent homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:71197433-71362232
Strand Reverse strand
Band q13.3
Transcripts
ENST00000340726 ENSP00000342626
ENST00000303824 ENSP00000303221
ENST00000388742 ENSP00000373394
ENST00000388743 ENSP00000373395
ENST00000388741 ENSP00000373393
ENST00000388740 ENSP00000373392
ENST00000419131 ENSP00000410176
ENST00000422295
ENST00000465115 ENSP00000428391
ENST00000496494
ENST00000493349 ENSP00000428517
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 15 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0000132 establishment of mitotic spindle orientation
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0006302 double-strand break repair
GO:0006351 transcription, DNA-templated
GO:0006470 protein dephosphorylation
GO:0007275 multicellular organismal development
GO:0007389 pattern specification process
GO:0007605 sensory perception of sound
GO:0009653 anatomical structure morphogenesis
GO:0009887 organ morphogenesis
GO:0010212 response to ionizing radiation
GO:0014706 striated muscle tissue development
GO:0016576 histone dephosphorylation
GO:0016925 protein sumoylation
GO:0034613 cellular protein localization
GO:0035088 establishment or maintenance of apical/basal cell polarity
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0035909 aorta morphogenesis
GO:0042471 ear morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042473 outer ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0045165 cell fate commitment
GO:0045664 regulation of neuron differentiation
GO:0045739 positive regulation of DNA repair
GO:0045747 positive regulation of Notch signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048665 neuron fate specification
GO:0048704 embryonic skeletal system morphogenesis
GO:0048752 semicircular canal morphogenesis
GO:0048856 anatomical structure development
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060037 pharyngeal system development
GO:0060487 lung epithelial cell differentiation
GO:0071599 otic vesicle development
GO:0071600 otic vesicle morphogenesis
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:0090103 cochlea morphogenesis
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025932
View Gene Order
ENSBTAG00000011298
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.491997 Hs.612611 Hs.618562
RefSeq NM_000503 NM_001288574 NM_001288575 NM_172058 NM_172059 NM_172060 XM_005251182 XM_005251184 XM_006716435 XM_006716436 XM_006716437
HUGO
OMIM
CCDS CCDS34906 CCDS34907 CCDS47873 CCDS75750
HPRD 03388
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca