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

Chr1:14168958-14310199 bp, - strand From NCBI annotation of GRCm38   141242 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 zebrafish

Protein SuperFamily: eyes absent protein
Gene Tree: Eya1

Human homologs

Human Homolog		EYA1, eyes absent homolog 1 (Drosophila)
NCBI Gene ID		2138
neXtProt AC		NX_Q99502
Human Synonyms		BOP, BOR, BOS1
Human Chr (Location)		8q13.3; chr8:72109668-72274467 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human EYA1

Alleles and phenotypes

All alleles(9) : Targeted(5) Gene trapped(3) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (67 annotations)

Process	anatomical structure development, aorta morphogenesis, ...
Component	cytoplasm, nucleus, ...
Function	hydrolase activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (81 records)
Data Summary: Results (112)    Tissues (88)    Images (26)
Theiler Stages: 10, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	95
Northern blot	12
RT-PCR	5

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(44) Genomic(1) cDNA(34) Primer pair(4) Other(5)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000025932 (Evidence)
Entrez Gene	14048 (Evidence)
UniGene	250185
DFCI	TC1583801, TC1592036, TC1596703, TC1700179
DoTS	DT.101183762, DT.40142968, DT.91577124, DT.99848649
NIA Mouse Gene Index	U021132
EC	3.1.3.48
Consensus CDS Project	CCDS56621.1
International Mouse Knockout Project Status	Eya1

Sequences

Length	Strain/Species
genomic	14048	NCBI Gene Model | MGI Sequence Detail	141242	C57BL/6J
transcript	NM_010164	RefSeq | MGI Sequence Detail	4354	C57BL/6
polypeptide	P97767	UniProt | EBI | MGI Sequence Detail	591	Not Applicable

All sequences(39) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(819 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006545	EYA
Protein Ontology	PR:000007273	eyes absent 1

Graphical View of Protein Domain Structure

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:185279 Paces-Fessy M, et al., Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis. Hum Mol Genet. 2012 Jul 15;21(14):3143-55
All references(118)

Other accession IDs

MGD-MRK-38389, MGI:1891212