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

    Gene ID: 14050, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    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

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    See Eya3 in Genome Data Viewer
    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_000070.7Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C8 Neighboring gene predicted gene, 54261 Neighboring gene STARR-positive B cell enhancer ABC_E10263 Neighboring gene platelet-activating factor receptor Neighboring gene STARR-seq mESC enhancer starr_11574 Neighboring gene STARR-seq mESC enhancer starr_11575 Neighboring gene STARR-seq mESC enhancer starr_11576 Neighboring gene STARR-positive B cell enhancer ABC_E9241 Neighboring gene sphingomyelin phosphodiesterase, acid-like 3B Neighboring gene X-linked Kx blood group related 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The EYA3 tyrosine phosphatase activity promotes pulmonary vascular remodeling in pulmonary arterial hypertension. Wang Y, et al. Nat Commun, 2019 Sep 12. PMID 31515519, Free PMC Article
    2. Characterization of the threonine-phosphatase of mouse eyes absent 3. Sano T, et al. FEBS Lett, 2011 Sep 2. PMID 21821028
    3. Acute induction of Eya3 by late-night light stimulation triggers TSHβ expression in photoperiodism. Masumoto KH, et al. Curr Biol, 2010 Dec 21. PMID 21129973
    4. The transcription factor Eyes absent is a protein tyrosine phosphatase. Tootle TL, et al. Nature, 2003 Nov 20. PMID 14628053
    5. Misexpression of the eyes absent family triggers the apoptotic program. Clark SW, et al. J Biol Chem, 2002 Feb 1. PMID 11700312

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 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 phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein tyrosine/serine/threonine 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
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    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
    		  
    involved_in positive regulation of DNA repair ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in response to ionizing radiation ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    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
    NP_001390685.1
    NP_001390686.1
    NP_001390687.1
    NP_001390688.1
    NP_001390689.1
    NP_034296.2
    NP_997592.1
    NP_997596.1
    XP_006538603.1
    XP_036019552.1

    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)

    1. NM_001403755.1 → NP_001390684.1  eyes absent homolog 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL627130

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

      Status: VALIDATED

      Source sequence(s)
      AL627130

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

      Status: VALIDATED

      Source sequence(s)
      AL627130

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

      Status: VALIDATED

      Source sequence(s)
      AL627130

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

      Status: VALIDATED

      Source sequence(s)
      AL627130

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

      Status: VALIDATED

      Source sequence(s)
      AL627130

    7. 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

    8. 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

    9. 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

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      132366303..132452076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    1. NM_211356.1: Suppressed sequence

      Description
      NM_211356.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P97480.2 GenPept UniProtKB/Swiss-Prot:P97480

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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