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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

Protein SuperFamily: eyes absent protein
Gene Tree: Eya1

Human
homologs
Human Homolog EYA1, EYA transcriptional coactivator and phosphatase 1
NCBI Gene ID 2138
neXtProt AC  NX_Q99502
Human Synonyms  BOP, BOR, BOS1, OFC1
Human Chr (Location)  8q13.3; chr8:71197433-71547649 (-)  GRCh38
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 Using Mouse Eya1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Eya1 interacts with 301 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: (87 records)
Data Summary: Results (171)    Tissues (109)    Images (43)
Theiler Stages: 10, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 28
Assay TypeResults
RNA in situ 154
Northern blot 12
RT-PCR 5
cDNA source data(31)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(43) Genomic(1) cDNA(32) Primer pair(4) Other(6)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000049176 (Evidence)
Ensembl Gene ModelENSMUSG00000025932 (Evidence)
Entrez Gene14048 (Evidence)
UniGene250185
DFCITC1583801, TC1592036, TC1596703, TC1700179
DoTSDT.101183762, DT.40142968, DT.91577124, DT.99848649
NIA Mouse Gene IndexU021132
EC3.1.3.16, 3.1.3.48
Consensus CDS ProjectCCDS56621.1
International Mouse Knockout Project StatusEya1
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(73) RefSeq(22) UniProt(6)
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:206879 Huang T, et al., BDNF and NT4 play interchangeable roles in gustatory development. Dev Biol. 2014 Feb 15;386(2):308-20
All references(128)
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
08/26/2014
MGI 5.19
The Jackson Laboratory