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Eya1
Gene Detail
Symbol

Name
ID
Eya1
eyes absent 1 homolog (Drosophila)
MGI:109344
Synonyms
bor
Feature Type
protein coding gene
Genetic Map
Chromosome 1
4.31 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr1:14168958-14310235 bp, - strand
From VEGA annotation of GRCm38

  141278 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:74943  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EYA1
Protein SuperFamily: eyes absent protein
Gene Tree: Eya1

Human
homologs
EYA1, EYA transcriptional coactivator and phosphatase 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2138
neXtProt AC: NX_Q99502

Human Synonyms: BOP, BOR, BOS1, OFC1

Human Chr (Location): 8q13.3; chr8:71197433-71548109 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human EYA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(3) Spontaneous(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.
 
Human Diseases Modeled in Mice Using Eya1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Eya1 interacts with 300 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (72 annotations)
Process anatomical structure development, aorta morphogenesis, ...
Component cell, cytoplasm, ...
Function hydrolase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (92 records)
Data Summary: Results (171)    Tissues (109)    Images (43)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 154
Northern blot 12
RT-PCR 5
cDNA source data(31)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA EYA1 ; Xenbase eya1 ; ZFIN eya1    NEW 
Molecular
reagents
All nucleic(43) Genomic(1) cDNA(32) Primer pair(4) Other(6)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000049176 (Evidence)
Ensembl Gene Model ENSMUSG00000025932 (Evidence)
Entrez Gene 14048 (Evidence)
UniGene 250185
DFCI TC1583801, TC1700179, TC1596703, TC1592036
DoTS DT.40142968, DT.101183762, DT.99848649, DT.91577124
NIA Mouse Gene Index U021132
EC 3.1.3.16, 3.1.3.48
Consensus CDS Project CCDS56621.1
International Mouse Phenotyping Consortium Status Eya1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049176 VEGA Gene Model | MGI Sequence Detail 141278 C57BL/6J ±  kb
transcript OTTMUST00000125475 VEGA | MGI Sequence Detail 2199 Not Applicable 
polypeptide OTTMUSP00000068008 VEGA | MGI Sequence Detail 591 Not Applicable 

For the selected sequences
All sequences(88) RefSeq(22) UniProt(10)
Polymorphisms
RFLP(1) : SNPs within 2kb(946 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006545 EYA
Protein Ontology PR:000007273 eyes absent homolog 1
References
(Earliest) J:38379 Xu PX, et al., Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development. 1997 Jan;124(1):219-31
(Latest) J:219797 Ranghini EJ, et al., Evidence for intermediate mesoderm and kidney progenitor cell specification by Pax2 and PTIP dependent mechanisms. Dev Biol. 2015 Mar 15;399(2):296-305
All references(131)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-38389, MGI:1891212

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory