Eya1 eyes absent 1 homolog (Drosophila) [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Eya1provided by MGI
Official Full Name: eyes absent 1 homolog (Drosophila)provided by MGI
Primary source: MGI:109344
See related: Ensembl:ENSMUSG00000025932
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: bor

Genomic context

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Location :: 1 A3; 1 4.31 cM

Sequence :: Chromosome: 1; NC_000067.6 (14168958..14310199, complement)

See Eya1 in Epigenomics, MapViewer

Chromosome 1 - NC_000067.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Eya1 is crucial for the maintenance of tight junction protein assembly in the lung epithelium.
Title: Eya1 protein phosphatase regulates tight junction formation in lung distal epithelium.
EYA1 is efficiently degraded during mitotic exit in a ANAPC1-dependent manner and these two proteins physically interact.
Title: The phosphatase-transcription activator EYA1 is targeted by anaphase-promoting complex/Cdh1 for degradation at M-to-G1 transition.
EYA1 and SIX1 drive the neuronal developmental program in cooperation with the SWI/SNF chromatin-remodeling complex and SOX2 in the mammalian inner ear.
Title: EYA1 and SIX1 drive the neuronal developmental program in cooperation with the SWI/SNF chromatin-remodeling complex and SOX2 in the mammalian inner ear.
Deletion of either or both Six1 and Eya1 genes results in genitourinary tract defects including persistent cloaca; hypospadias; and hypoplastic genitalia.
Title: Six1 and Eya1 are critical regulators of peri-cloacal mesenchymal progenitors during genitourinary tract development.
Six1 and Eya1 genetically interacted with Fgf8 and the Tbx1 pathway that is crucial for cardiovascular and craniofacial morphogenesis
Title: A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis.
These findings uncover novel functions for Eya1 as a crucial regulator of cell fate, cell polarity and spindle orientation in distal embryonic lung epithelium.
Title: Eya1 controls cell polarity, spindle orientation, cell fate and Notch signaling in distal embryonic lung epithelium.
Eya1 function is critical for proper coordination of lung epithelial, mesenchymal and vascular development.
Title: Eyes absent 1 (Eya1) is a critical coordinator of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung.
Data report the identification of the related proteins Sipl1 (Shank-interacting protein-like 1) and Rbck1 (RBCC protein interacting with PKC1) as novel interaction partners of Eya1.
Title: Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.
Mapping of genetic modifiers of Eya1 ( bor/bor ) in CAST/EiJ and BALB/cJ that suppress cochlear aplasia and associated deafness.
Title: Mapping of genetic modifiers of Eya1 ( bor/bor ) in CAST/EiJ and BALB/cJ that suppress cochlear aplasia and associated deafness.
a comprehensive group of enhancers around Eya1 locus, which are probably involved in the control of the complex expression pattern of Eya1 in vivo.
Title: Multiple evolutionarily conserved enhancers control expression of Eya1.

Submit: New GeneRIF Correction See all (26)

Alleles

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Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (Floxed/Frt) (1) 1 citation
Targeted (knock-out) (1) 1 citation
Spontaneous (1) 1 citation
Targeted (Reporter) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_034294.1	NP_033115.1	Polr2a	BIND	PubMed	Eya1 interacts with RNAPII. This interaction was modelled on a demonstrated interaction between mouse Eya1 and RNAPII from an unspecified source.
BioGRID:199559	BioGRID:201733	Neurod1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:199559	BioGRID:201735	Neurog1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:199559	BioGRID:204899	Rbck1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:199559	BioGRID:222977	Sharpin	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:199559	BioGRID:203259	Six1	BioGRID	PubMed	Phenotypic Enhancement; Synthetic Growth Defect; Two-hybrid
BioGRID:199559	BioGRID:203260	Six2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:199559	BioGRID:203261	Six3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:199559	BioGRID:203336	Smarca4	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement
BioGRID:199559	BioGRID:203338	Smarcc1	BioGRID	PubMed	Phenotypic Enhancement
BioGRID:199559	BioGRID:212652	Smarcc2	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Two-hybrid
BioGRID:199559	BioGRID:203406	Sox2	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Reconstituted Complex

Pathways from BioSystems

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Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
Transcriptional misregulation in cancer, organism-specific biosystem
Transcriptional misregulation in cancer
Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
Transcriptional misregulation in cancer, conserved biosystem
Transcriptional misregulation in cancer

General gene information

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Markers

D1Mit430 (e-PCR), detects polymorphism
- UniSTS:128799

U61110 (e-PCR)
- UniSTS:158776

Eya1 (e-PCR), detects polymorphism
- UniSTS:234058

C86010 (e-PCR)
- UniSTS:185431

Eya1 (e-PCR), detects polymorphism
- UniSTS:531335

RH131160 (e-PCR)
- UniSTS:214443

Eya1 (e-PCR), detects polymorphism
- UniSTS:496609

35.MMHAP50FLD5.seq (e-PCR)
- UniSTS:124145

Homology

Homologs of the Eya1 gene: The Eya1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana, and rice.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
hydrolase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
phosphoprotein phosphatase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
protein tyrosine phosphatase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
DNA repair	IEA Inferred from Electronic Annotation more info
anatomical structure development	IGI Inferred from Genetic Interaction more info	PubMed
aorta morphogenesis	IMP Inferred from Mutant Phenotype more info
branching involved in ureteric bud morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
cellular protein localization	IMP Inferred from Mutant Phenotype more info
chromatin modification	IEA Inferred from Electronic Annotation more info
cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
double-strand break repair	ISO Inferred from Sequence Orthology more info
embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
establishment of mitotic spindle orientation	IGI Inferred from Genetic Interaction more info
establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info
establishment or maintenance of apical/basal cell polarity	IMP Inferred from Mutant Phenotype more info
histone dephosphorylation	ISO Inferred from Sequence Orthology more info
inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
lung epithelial cell differentiation	IGI Inferred from Genetic Interaction more info
mesodermal cell fate specification	IDA Inferred from Direct Assay more info	PubMed
metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
neuron fate specification	IGI Inferred from Genetic Interaction more info
organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
otic vesicle development	IGI Inferred from Genetic Interaction more info
otic vesicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
outer ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info
pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
pharyngeal system development	IMP Inferred from Mutant Phenotype more info
positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
positive regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info
positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of secondary heart field cardioblast proliferation	IGI Inferred from Genetic Interaction more info
positive regulation of transcription from RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info
regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
response to DNA damage stimulus	IEA Inferred from Electronic Annotation more info
response to ionizing radiation	ISO Inferred from Sequence Orthology more info
semicircular canal morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
striated muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
ureteric bud development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	ISO Inferred from Sequence Orthology more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	ISO Inferred from Sequence Orthology more info
protein complex	IDA Inferred from Direct Assay more info	PubMed
protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: eyes absent homolog 1

Names: eyes absent homolog 1

NP_001239121.1

EC 3.1.3.48

NP_034294.2

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001252192.1 → NP_001239121.1 eyes absent homolog 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the 5' coding region and uses a different start codon compared to variant 1. The resulting isoform (2) contains a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK042412, BC060260

Consensus CDS

CCDS56621.1

UniProtKB/TrEMBL

Q6PAJ8

UniProtKB/TrEMBL

Q8C9D0

Related

ENSMUSP00000126383, ENSMUST00000168081

Conserved Domains (1) summary

TIGR01658
Location:287 – 558
Blast Score: 995

EYA-cons_domain; eyes absent protein conserved domain
NM_010164.2 → NP_034294.2 eyes absent homolog 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC060260

UniProtKB/TrEMBL

Q6PAJ8

Related

ENSMUSP00000027066, ENSMUST00000027066

Conserved Domains (1) summary

TIGR01658
Location:316 – 587
Blast Score: 993

EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000067.6 Reference GRCm38.p1 C57BL/6J

Range

14168958..14310199, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000023.1 Alternate Mm_Celera

Range

14109695..14251151, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01004006.1	None
genomic	AAHY01004007.1	None
genomic	AAHY01004008.1	None
genomic	AAHY01004009.1	None
genomic	AAHY01004010.1	None
genomic	AAHY01004011.1	None
genomic	AAHY01004012.1	None
genomic	AAHY01004013.1	None
genomic	AC119875.7 (16318..78994)	None
genomic	AC156988.6 (70255..148819)	None
genomic	AF097544.1	AAD19355.1	129/SvJ
genomic	CH466536.1	EDL14327.1	mixed
genomic	Y10263.1	CAA71312.1
mRNA	AJ007995.1	CAA07818.1
mRNA	AK042412.1	BAC31251.1	C57BL/6J
mRNA	AK045320.1	None	C57BL/6J
mRNA	AK153788.1	None	C57BL/6J
mRNA	AK162111.1	BAE36732.1	C57BL/6J
mRNA	BC060260.1	AAH60260.1	C57BL/6
mRNA	BC066860.1	AAH66860.2	CD-1
mRNA	U61110.1	AAB48017.1