Eya3 EYA transcriptional coactivator and phosphatase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eya3provided by MGI
Official Full Name: EYA transcriptional coactivator and phosphatase 3provided by MGI
Primary source: MGI:MGI:109339
See related: Ensembl:ENSMUSG00000028886 AllianceGenome:MGI:109339
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
Summary: Enables chromatin binding activity; protein tyrosine phosphatase activity; and protein tyrosine/serine/threonine phosphatase activity. Acts upstream of or within protein dephosphorylation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; rhombomere; and sensory organ. Orthologous to human EYA3 (EYA transcriptional coactivator and phosphatase 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 11.7), limb E14.5 (RPKM 11.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.3; 4 65.68 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (132366303..132452076)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (132639025..132724765)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

these observations establish EYA3 as a disease-modifying target whose function in the pathophysiology of pulmonary arterial hypertension.
Title: The EYA3 tyrosine phosphatase activity promotes pulmonary vascular remodeling in pulmonary arterial hypertension.
Data showed that the 68-amino acid domain between positions 53 and 120 was necessary and sufficient for its threonine-phosphatase activity.
Title: Characterization of the threonine-phosphatase of mouse eyes absent 3.
Data demonstrate that Eya3 and its partner Six1 synergistically activate TSHbeta expression and that this activation is further enhanced by Tef and Hlf.
Title: Acute induction of Eya3 by late-night light stimulation triggers TSHβ expression in photoperiodism.
Ski is necessary for muscle terminal differentiation and that it exerts this role, at least in part, through its association with Six1 and Eya3 to regulate the Myog transcription
Title: Ski regulates muscle terminal differentiation by transcriptional activation of Myog in a complex with Six1 and Eya3.
There was no obvious defect in the eyes, ears and kidneys of Eya3 mutant mice. Homozygous mutants displayed decreased bone mineral content and shorter body length.
Title: Pleiotropic effects in Eya3 knockout mice.
Experiments performed in cultured Drosophila cells and in vitro indicate that Eyes absent has intrinsic protein tyrosine phosphatase activity and can autocatalytically dephosphorylate itself
Title: The transcription factor Eyes absent is a protein tyrosine phosphatase.
The phosphatase function of Eya switches the function of Six1-Dach from repression to activation, causing transcriptional activation through recruitment of co-activators
Title: Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.

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Variation

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Alleles

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

Gene trapped (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235047

U81604 (e-PCR)
- UniSTS:159304

Eya3 (e-PCR), detects polymorphism
- UniSTS:234060

Eya3 (e-PCR), detects polymorphism
- UniSTS:143050

Eya3 (e-PCR), detects polymorphism
- UniSTS:143051

AI844637 (e-PCR)
- UniSTS:165358

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IGI Inferred from Genetic Interaction more info	PubMed
enables histone H2AXY142 phosphatase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphoprotein 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
enables protein tyrosine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine/serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
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
acts_upstream_of_or_within protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: eyes absent homolog 3

Names: eyes absent 3 homolog

NP_001390684.1

EC 3.1.3.48

NP_001390685.1

EC 3.1.3.48

NP_001390686.1

EC 3.1.3.48

NP_001390687.1

EC 3.1.3.48

NP_001390688.1

EC 3.1.3.48

NP_001390689.1

EC 3.1.3.48

NP_034296.2

EC 3.1.3.48

NP_997592.1

EC 3.1.3.48

NP_997596.1

EC 3.1.3.48

XP_006538603.1

EC 3.1.3.48

XP_036019552.1

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_001403755.1 → NP_001390684.1 eyes absent homolog 3 isoform 4

Status: VALIDATED

Source sequence(s)

AL627130
NM_001403756.1 → NP_001390685.1 eyes absent homolog 3 isoform 4

Status: VALIDATED

Source sequence(s)

AL627130
NM_001403757.1 → NP_001390686.1 eyes absent homolog 3 isoform 5

Status: VALIDATED

Source sequence(s)

AL627130
NM_001403758.1 → NP_001390687.1 eyes absent homolog 3 isoform 6

Status: VALIDATED

Source sequence(s)

AL627130
NM_001403759.1 → NP_001390688.1 eyes absent homolog 3 isoform 7

Status: VALIDATED

Source sequence(s)

AL627130
NM_001403760.1 → NP_001390689.1 eyes absent homolog 3 isoform 8

Status: VALIDATED

Source sequence(s)

AL627130
NM_010166.4 → NP_034296.2 eyes absent homolog 3 isoform 2

See identical proteins and their annotated locations for NP_034296.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL627130

Consensus CDS

CCDS18730.1

UniProtKB/Swiss-Prot

G5E8I5, P97480, P97768

Related

ENSMUSP00000078157.5, ENSMUST00000079157.11

Conserved Domains (1) summary

TIGR01658
Location:239 → 510

EYA-cons_domain; eyes absent protein conserved domain
NM_210071.3 → NP_997592.1 eyes absent homolog 3 isoform 1

See identical proteins and their annotated locations for NP_997592.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL627130

Consensus CDS

CCDS18729.1

UniProtKB/TrEMBL

Q6P4T3

Related

ENSMUSP00000080425.7, ENSMUST00000081726.13

Conserved Domains (1) summary

TIGR01658
Location:255 → 526

EYA-cons_domain; eyes absent protein conserved domain
NM_211357.3 → NP_997596.1 eyes absent homolog 3 isoform 3

See identical proteins and their annotated locations for NP_997596.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AL627130

Consensus CDS

CCDS18731.1

UniProtKB/TrEMBL

Q6P4T3

Related

ENSMUSP00000020197.8, ENSMUST00000020197.14

Conserved Domains (1) summary

TIGR01658
Location:145 → 416

EYA-cons_domain; eyes absent protein conserved domain

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_000070.7 Reference GRCm39 C57BL/6J

Range

132366303..132452076

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538540.5 → XP_006538603.1 eyes absent homolog 3 isoform X5

UniProtKB/TrEMBL

A2A953

Related

ENSMUSP00000123045.2, ENSMUST00000135299.8

Conserved Domains (1) summary

TIGR01658
Location:301 → 360

EYA-cons_domain; eyes absent protein conserved domain
XM_036163659.1 → XP_036019552.1 eyes absent homolog 3 isoform X3

Conserved Domains (1) summary

TIGR01658
Location:253 → 524

EYA-cons_domain; eyes absent protein conserved domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_211356.1: Suppressed sequence

Description

NM_211356.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.