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

    Gene ID: 14048, updated on 7-May-2017
    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 Vega:OTTMUSG00000049176
    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
    Orthologs
    Location:
    1 A3; 1 4.31 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (14168953..14310267, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (14159039..14300280, complement)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 19122 Neighboring gene predicted gene, 39596 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene Neighboring gene musculin

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    animal organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
    PubMed 
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    ear morphogenesis IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment or maintenance of apical/basal cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    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 organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron fate specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    otic vesicle development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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
    PubMed 
    pattern specification process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    pattern specification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA repair IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    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
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription, DNA-templated 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
    PubMed 
    regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated 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-templated 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
     
    nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm 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 
    Preferred Names
    eyes absent homolog 1
    Names
    eyes absent 1 homolog
    NP_001239121.1
    NP_001297388.1
    NP_034294.2
    XP_006495509.1
    XP_006495514.1
    XP_006495515.1
    XP_011236646.1
    XP_011236648.1
    XP_011236649.1
    XP_017170837.1
    XP_017170870.1
    XP_017170903.1
    XP_017170911.1

    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_001252192.1NP_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 in the 5' coding region and uses a different start codon compared to variant 3. The resulting isoform (2) contains a shorter and distinct N-terminus, compared to isoform 3.
      Source sequence(s)
      AK042412, BC060260
      Consensus CDS
      CCDS56621.1
      UniProtKB/TrEMBL
      Q6PAJ8, Q8C9D0
      Related
      ENSMUSP00000079493.8, OTTMUSP00000068007, ENSMUST00000080664.13, OTTMUST00000125474
      Conserved Domains (2) summary
      TIGR01658
      Location:287558
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:289533
      Hydrolase; haloacid dehalogenase-like hydrolase
    2. NM_001310459.1NP_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) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC119875, AC156988
      Consensus CDS
      CCDS78545.1
      UniProtKB/Swiss-Prot
      P97767
      Related
      ENSMUSP00000027066.6, ENSMUST00000027066.12
      Conserved Domains (2) summary
      TIGR01658
      Location:320591
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:322566
      Hydrolase; haloacid dehalogenase-like hydrolase
    3. NM_010164.2NP_034294.2  eyes absent homolog 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses two alternate in-frame splice junctions compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      BC060260
      Consensus CDS
      CCDS78546.1
      UniProtKB/TrEMBL
      F6YST4, Q6PAJ8
      Related
      ENSMUSP00000126383.3, OTTMUSP00000068006, ENSMUST00000168081.8, OTTMUST00000125473
      Conserved Domains (3) summary
      TIGR01658
      Location:316587
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:318562
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam03153
      Location:74250
      TFIIA; Transcription factor IIA, alpha/beta subunit

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      14168953..14310267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495452.3XP_006495515.1  eyes absent homolog 1 isoform X5

      See identical proteins and their annotated locations for XP_006495515.1

      Conserved Domains (3) summary
      TIGR01658
      Location:288532
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:290534
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam15991
      Location:40229
      G_path_suppress; G-protein pathway suppressor
    2. XM_006495451.3XP_006495514.1  eyes absent homolog 1 isoform X4

      Conserved Domains (2) summary
      TIGR01658
      Location:315586
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:317561
      Hydrolase; haloacid dehalogenase-like hydrolase
    3. XM_017315414.1XP_017170903.1  eyes absent homolog 1 isoform X7

    4. XM_011238344.2XP_011236646.1  eyes absent homolog 1 isoform X2

      Conserved Domains (2) summary
      TIGR01658
      Location:321592
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:323567
      Hydrolase; haloacid dehalogenase-like hydrolase
    5. XM_011238346.2XP_011236648.1  eyes absent homolog 1 isoform X5

      See identical proteins and their annotated locations for XP_011236648.1

      Conserved Domains (3) summary
      TIGR01658
      Location:288532
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:290534
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam15991
      Location:40229
      G_path_suppress; G-protein pathway suppressor
    6. XM_017315381.1XP_017170870.1  eyes absent homolog 1 isoform X5

      Conserved Domains (3) summary
      TIGR01658
      Location:288532
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:290534
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam15991
      Location:40229
      G_path_suppress; G-protein pathway suppressor
    7. XM_006495446.3XP_006495509.1  eyes absent homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006495509.1

      Conserved Domains (3) summary
      TIGR01658
      Location:321565
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:323567
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam15991
      Location:73262
      G_path_suppress; G-protein pathway suppressor
    8. XM_017315422.1XP_017170911.1  eyes absent homolog 1 isoform X7

    9. XM_017315348.1XP_017170837.1  eyes absent homolog 1 isoform X3

      UniProtKB/Swiss-Prot
      P97767
      Related
      ENSMUSP00000141112.1, OTTMUSP00000068008, ENSMUST00000190337.6, OTTMUST00000125475
      Conserved Domains (2) summary
      TIGR01658
      Location:320591
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:322566
      Hydrolase; haloacid dehalogenase-like hydrolase
    10. XM_011238347.2XP_011236649.1  eyes absent homolog 1 isoform X6

      Conserved Domains (1) summary
      TIGR01658
      Location:321486
      EYA-cons_domain; eyes absent protein conserved domain

    RNA

    1. XR_001780756.1 RNA Sequence

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