Eya1 EYA transcriptional coactivator and phosphatase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eya1provided by MGI
Official Full Name: EYA transcriptional coactivator and phosphatase 1provided by MGI
Primary source: MGI:MGI:109344
See related: Ensembl:ENSMUSG00000025932 AllianceGenome:MGI:109344
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: bor
Summary: Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of DNA-templated transcription; and protein sumoylation. Acts upstream of or within several processes, including embryonic organ morphogenesis; kidney development; and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 1.6), limb E14.5 (RPKM 1.5) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A3; 1 4.31 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (14239177..14381259, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (14168953..14311035, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The transcriptional coactivator Eya1 exerts transcriptional repressive activity by interacting with REST corepressors and REST-binding sequences to maintain nephron progenitor identity.
Title: The transcriptional coactivator Eya1 exerts transcriptional repressive activity by interacting with REST corepressors and REST-binding sequences to maintain nephron progenitor identity.
Chromatin Remodelers Interact with Eya1 and Six2 to Target Enhancers to Control Nephron Progenitor Cell Maintenance.
Title: Chromatin Remodelers Interact with Eya1 and Six2 to Target Enhancers to Control Nephron Progenitor Cell Maintenance.
The Eya1 Phosphatase Mediates Shh-Driven Symmetric Cell Division of Cerebellar Granule Cell Precursors.
Title: The Eya1 Phosphatase Mediates Shh-Driven Symmetric Cell Division of Cerebellar Granule Cell Precursors.
Notch is regulated by the threonine phosphatase activity of Eya1. Eya1 dephosphorylates p-threonine-2122 of the Notch1 intracellular domain (Notch1 ICD), which increases the stability of Notch1 ICD and maintains Notch signaling activity in the non-neuronal epibranchial placodal cells.
Title: An Eya1-Notch axis specifies bipotential epibranchial differentiation in mammalian craniofacial morphogenesis.
data support a model where Eya-Six may form a complex to regulate nephron progenitor cell development before metanephric specification and are critical mesenchymal factors for inducing nephric duct development.
Title: Eya-six are necessary for survival of nephrogenic cord progenitors and inducing nephric duct development before ureteric bud formation.
Eya1 phosphatase promotes Shh signaling during hindbrain development and oncogenesis
Title: The Eya1 phosphatase promotes Shh signaling during hindbrain development and oncogenesis.
results reveal a functional link between Eya1, Six2, and Myc in driving the expansion and maintenance of the multipotent progenitors during nephrogenesis
Title: Eya1 interacts with Six2 and Myc to regulate expansion of the nephron progenitor pool during nephrogenesis.
BOR syndrome-associated Eya1 missense mutations S454P, L472R, and L550P lead to enhanced proteasomal degradation of the Eya1 protein.
Title: BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
these findings reveal that the canonical Wnt and PI3K/Akt signal pathways restrain the GSK3/Fbw7-dependent Eya1 ubiquitination, and they further suggest that dysregulation of this novel axis contributes to tumorigenesis.
Title: The canonical wnt signal restricts the glycogen synthase kinase 3/fbw7-dependent ubiquitination and degradation of eya1 phosphatase.
The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter.
Title: EYA1 phosphatase function is essential to drive breast cancer cell proliferation through cyclin D1.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

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

Endonuclease-mediated (3)
Spontaneous (1) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AXY142 phosphatase activity	ISO Inferred from Sequence Orthology more info
enables histone H2AXY142 phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within anatomical structure development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesodermal cell fate specification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within otic vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within otic vesicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outer ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within semicircular canal morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ureteric bud development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing 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 1 homolog

NP_001239121.1

EC 3.1.3.16

EC 3.1.3.48

NP_001297388.1

EC 3.1.3.16

EC 3.1.3.48

NP_001389588.1

EC 3.1.3.16

EC 3.1.3.48

NP_001389589.1

EC 3.1.3.16

EC 3.1.3.48

NP_001389590.1

EC 3.1.3.16

EC 3.1.3.48

NP_001389591.1

EC 3.1.3.16

EC 3.1.3.48

NP_034294.2

EC 3.1.3.16

EC 3.1.3.48

XP_006495509.1

EC 3.1.3.16

EC 3.1.3.48

XP_006495515.1

EC 3.1.3.16

EC 3.1.3.48

XP_011236648.1

EC 3.1.3.16

EC 3.1.3.48

XP_017170837.1

EC 3.1.3.16

EC 3.1.3.48

XP_017170870.1

EC 3.1.3.16

EC 3.1.3.48

XP_017170903.1

EC 3.1.3.16

EC 3.1.3.48

XP_030103330.1

EC 3.1.3.16

EC 3.1.3.48

XP_036015537.1

EC 3.1.3.16

EC 3.1.3.48

XP_036015555.1

EC 3.1.3.16

EC 3.1.3.48

XP_036015568.1

EC 3.1.3.16

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_001252192.2 → NP_001239121.1 eyes absent homolog 1 isoform 2

See identical proteins and their annotated locations for NP_001239121.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame segment and uses an alternate splice site in the 5' coding region and uses a different start codon compared to variant 4. The resulting isoform (2) contains a shorter and distinct N-terminus, compared to isoform 4.

Source sequence(s)

AC119875, AC156988

Consensus CDS

CCDS56621.1

UniProtKB/TrEMBL

F7B3B8, Q6NXW1, Q8C9D0

Related

ENSMUSP00000079493.9, ENSMUST00000080664.14

Conserved Domains (2) summary

TIGR01658
Location:287 → 558

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:289 → 533

Hydrolase; haloacid dehalogenase-like hydrolase
NM_001310459.2 → NP_001297388.1 eyes absent homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001297388.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' CDS, compared to variant 4. It encodes isoform 3, which is shorter than isoform 4 by an amino acid residue.

Source sequence(s)

AC119875, AC156988

Consensus CDS

CCDS78545.1

UniProtKB/Swiss-Prot

G5E864, O08818, P97767

UniProtKB/TrEMBL

Q6PAJ8

Related

ENSMUSP00000027066.7, ENSMUST00000027066.13

Conserved Domains (1) summary

cd02601
Location:320 → 591

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001402659.1 → NP_001389588.1 eyes absent homolog 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC119875, AC156988
NM_001402660.1 → NP_001389589.1 eyes absent homolog 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC119875, AC156988
NM_001402661.1 → NP_001389590.1 eyes absent homolog 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC119875, AC156988
NM_001402662.1 → NP_001389591.1 eyes absent homolog 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC119875, AC156988
NM_010164.3 → NP_034294.2 eyes absent homolog 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses alternate in-frame splice junctions compared to variant 4. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 4.

Source sequence(s)

AC119875, AC156988

Consensus CDS

CCDS78546.1

UniProtKB/TrEMBL

F6YST4, Q6PAJ8

Related

ENSMUSP00000126383.4, ENSMUST00000168081.9

Conserved Domains (3) summary

TIGR01658
Location:316 → 587

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:318 → 562

Hydrolase; haloacid dehalogenase-like hydrolase

pfam03153
Location:74 → 250

TFIIA; Transcription factor IIA, alpha/beta subunit

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

14239177..14381259 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495452.4 → XP_006495515.1 eyes absent homolog 1 isoform X5

See identical proteins and their annotated locations for XP_006495515.1

UniProtKB/TrEMBL

Q6NXW1

Conserved Domains (1) summary

cd02601
Location:288 → 533

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_017315414.2 → XP_017170903.1 eyes absent homolog 1 isoform X8

UniProtKB/TrEMBL

Q6PAJ8

Conserved Domains (1) summary

cd02601
Location:204 → 475

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_011238346.3 → XP_011236648.1 eyes absent homolog 1 isoform X5

See identical proteins and their annotated locations for XP_011236648.1

UniProtKB/TrEMBL

Q6NXW1

Conserved Domains (1) summary

cd02601
Location:288 → 533

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_017315381.2 → XP_017170870.1 eyes absent homolog 1 isoform X5

UniProtKB/TrEMBL

Q6NXW1

Conserved Domains (1) summary

cd02601
Location:288 → 533

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_006495446.5 → XP_006495509.1 eyes absent homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006495509.1

UniProtKB/TrEMBL

Q6PAJ8

Conserved Domains (1) summary

cd02601
Location:321 → 566

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_030247470.2 → XP_030103330.1 eyes absent homolog 1 isoform X1

UniProtKB/TrEMBL

Q6PAJ8

Conserved Domains (1) summary

cd02601
Location:321 → 566

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_017315348.3 → XP_017170837.1 eyes absent homolog 1 isoform X3

UniProtKB/Swiss-Prot

G5E864, O08818, P97767

UniProtKB/TrEMBL

Q6PAJ8

Related

ENSMUSP00000141112.2, ENSMUST00000190337.7

Conserved Domains (1) summary

cd02601
Location:320 → 591

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_036159662.1 → XP_036015555.1 eyes absent homolog 1 isoform X7

Conserved Domains (1) summary

cd02601
Location:199 → 444

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_036159644.1 → XP_036015537.1 eyes absent homolog 1 isoform X6

UniProtKB/TrEMBL

Q6PAJ8

Conserved Domains (1) summary

cl21460
Location:321 → 493

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_036159675.1 → XP_036015568.1 eyes absent homolog 1 isoform X10