Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    EYA3 EYA transcriptional coactivator and phosphatase 3 [ Homo sapiens (human) ]

    Gene ID: 2140, updated on 22-Apr-2017
    Official Symbol
    EYA3provided by HGNC
    Official Full Name
    EYA transcriptional coactivator and phosphatase 3provided by HGNC
    Primary source
    HGNC:HGNC:3521
    See related
    Ensembl:ENSG00000158161 MIM:601655; Vega:OTTHUMG00000003916
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    1p35.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (27970344..28088671, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28296855..28415173, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sphingomyelin phosphodiesterase acid like 3B Neighboring gene XK related 8 Neighboring gene RNA, 7SL, cytoplasmic 559, pseudogene Neighboring gene signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
      DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686C132

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding 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 TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    eyes absent homolog 3
    Names
    eyes absent 3
    NP_001269489.1
    NP_001269490.1
    NP_001269491.1
    NP_001981.2

    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_001282560.1NP_001269489.1  eyes absent homolog 3 isoform b

      See identical proteins and their annotated locations for NP_001269489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, and contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC041667, DC416048
      Consensus CDS
      CCDS60052.1
      UniProtKB/Swiss-Prot
      Q99504
      Related
      ENSP00000362970.3, OTTHUMP00000004014, ENST00000373863.3, OTTHUMT00000011186
      Conserved Domains (1) summary
      TIGR01658
      Location:256501
      EYA-cons_domain; eyes absent protein conserved domain
    2. NM_001282561.1NP_001269490.1  eyes absent homolog 3 isoform c

      See identical proteins and their annotated locations for NP_001269490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AK295745, AL512288, CA434977, DC416048
      Consensus CDS
      CCDS60051.1
      UniProtKB/Swiss-Prot
      Q99504
      Related
      ENSP00000442558.1, ENST00000540618.5
      Conserved Domains (1) summary
      TIGR01658
      Location:256527
      EYA-cons_domain; eyes absent protein conserved domain
    3. NM_001282562.1NP_001269491.1  eyes absent homolog 3 isoform d

      See identical proteins and their annotated locations for NP_001269491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region which results in the use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK298129, AL512288, CA434977, DC416048
      Consensus CDS
      CCDS60050.1
      UniProtKB/Swiss-Prot
      Q99504
      Related
      ENSP00000405587.3, ENST00000436342.6
      Conserved Domains (1) summary
      TIGR01658
      Location:249520
      EYA-cons_domain; eyes absent protein conserved domain
    4. NM_001990.3NP_001981.2  eyes absent homolog 3 isoform a

      See identical proteins and their annotated locations for NP_001981.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK289805, AL512288, CR748247, DC416048
      Consensus CDS
      CCDS316.1
      UniProtKB/Swiss-Prot
      Q99504
      Related
      ENSP00000362978.3, OTTHUMP00000004013, ENST00000373871.7, OTTHUMT00000011184
      Conserved Domains (1) summary
      TIGR01658
      Location:302573
      EYA-cons_domain; eyes absent protein conserved domain

    RNA

    1. NR_104214.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional exon in the central region, and lacks two exons in the 3' region but includes a different 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC029500, BQ018346, DC416048
      Related
      ENST00000471498.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      27970344..28088671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710449.3XP_006710512.1  eyes absent homolog 3 isoform X5

      See identical proteins and their annotated locations for XP_006710512.1

      Conserved Domains (1) summary
      TIGR01658
      Location:304575
      EYA-cons_domain; eyes absent protein conserved domain
    2. XM_011541004.2XP_011539306.1  eyes absent homolog 3 isoform X10

      See identical proteins and their annotated locations for XP_011539306.1

      Conserved Domains (1) summary
      TIGR01658
      Location:258529
      EYA-cons_domain; eyes absent protein conserved domain
    3. XM_011540999.2XP_011539301.1  eyes absent homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_011539301.1

      Conserved Domains (1) summary
      TIGR01658
      Location:304549
      EYA-cons_domain; eyes absent protein conserved domain
    4. XM_011541003.2XP_011539305.1  eyes absent homolog 3 isoform X8

      Conserved Domains (1) summary
      TIGR01658
      Location:258503
      EYA-cons_domain; eyes absent protein conserved domain
    5. XM_011541001.2XP_011539303.1  eyes absent homolog 3 isoform X4

      See identical proteins and their annotated locations for XP_011539303.1

      Conserved Domains (1) summary
      TIGR01658
      Location:302547
      EYA-cons_domain; eyes absent protein conserved domain
    6. XM_017000658.1XP_016856147.1  eyes absent homolog 3 isoform X9

    7. XM_017000652.1XP_016856141.1  eyes absent homolog 3 isoform X1

    8. XM_017000653.1XP_016856142.1  eyes absent homolog 3 isoform X1

    9. XM_017000655.1XP_016856144.1  eyes absent homolog 3 isoform X2

    10. XM_017000659.1XP_016856148.1  eyes absent homolog 3 isoform X11

    11. XM_017000656.1XP_016856145.1  eyes absent homolog 3 isoform X6

    12. XM_017000657.1XP_016856146.1  eyes absent homolog 3 isoform X7

    13. XM_017000654.1XP_016856143.1  eyes absent homolog 3 isoform X2

    RNA

    1. XR_001737038.1 RNA Sequence

    2. XR_001737039.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      28412382..28530637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172098.1: Suppressed sequence

      Description
      NM_172098.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Support Center