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EYA1 Gene

protein-coding   GIFtS: 64
GCID: GC08M072159

Eyes Absent Homolog 1 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 1)
(Previous symbol: BOR)
  See EYA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eyes Absent Homolog 1 (Drosophila)1 2     Eyes Absent (Drosophila) Homolog 11
BOR1 2 5     BOP2
EC 3.1.3.483 8     Eyes Absent Homolog 12
BOS12 5     EC 3.1.3.163
OFC12 5     

External Ids:    HGNC: 35191   Entrez Gene: 21382   Ensembl: ENSG000001043137   OMIM: 6016535   UniProtKB: Q995023   

Export aliases for EYA1 gene to outside databases

Previous GC identifers: GC08M071210 GC08M072050 GC08M071832 GC08M072272 GC08M067603


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EYA1 Gene:
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the
developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with
branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular
anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively
spliced transcript variants have been identified for this gene. (provided by RefSeq, Dec 2013)

GeneCards Summary for EYA1 Gene:
EYA1 (eyes absent homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with EYA1 include brachiootic syndrome 3, and branchiootic syndrome. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA3.

UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
Function: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for
SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and
promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142'
phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between
apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its
function in transcription regulation during organogenesis. Has also phosphatase activity with proteins
phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial
and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle
development; in this it is functionally redundant with EYA2

Gene Wiki entry for EYA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EYA1 gene promoter:
         S8   Lmo2   HNF-4alpha2   HNF-4alpha1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEYA1 promoter sequence
   Search Chromatin IP Primers for EYA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EYA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q13.3   Ensembl cytogenetic band:  8q13.3   HGNC cytogenetic band: 8q13.3

EYA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EYA1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M072159:  view genomic region     (about GC identifiers)

Start:
72,109,668 bp from pter      End:
72,274,467 bp from pter
Size:
164,800 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502 (See protein sequence)
Recommended Name: Eyes absent homolog 1  
Size: 592 amino acids; 64593 Da
Cofactor: Binds 1 Mg(2+) ion per subunit (By similarity)
Subunit: Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage (By
similarity)
Developmental stage: Detected in cytoplasm of somite cells at the beginning of fourth week of development.
Detected in cytoplasm of limb bud cell between the sixth and eighth week of development
Secondary accessions: A6NHQ0 G5E9R4 Q0P516 Q8WX80
Alternative splicing: 3 isoforms:  Q99502-1   Q99502-2   Q99502-3   

Explore the universe of human proteins at neXtProt for EYA1: NX_Q99502

Explore proteomics data for EYA1 at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EYA1 (Q99502) (see all 9)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 


    See EYA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000494.2  NP_001275503.1  NP_001275504.1  NP_742055.1  NP_742056.1  NP_742057.1  

    ENSEMBL proteins: 
     ENSP00000373394   ENSP00000428391   ENSP00000342626   ENSP00000303221   ENSP00000373393  
     ENSP00000373395   ENSP00000410176   ENSP00000428517   ENSP00000373392  

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EYA1

     
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    Search eBioscience for ELISAs for EYA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTPE: Protein tyrosine phosphatases / Asp-based PTPs

    3 InterPro protein domains:
     IPR028471 Eyes_absent_h1
     IPR028472 EYA_fam
     IPR006545 EYA_dom

    Graphical View of Domain Structure for InterPro Entry Q99502

    ProtoNet protein and cluster: Q99502

    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
    Similarity: Belongs to the HAD-like hydrolase superfamily. EYA family


    Find genes that share domains with EYA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EYA1_HUMAN, Q99502
    Function: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for
    SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and
    promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142'
    phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between
    apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its
    function in transcription regulation during organogenesis. Has also phosphatase activity with proteins
    phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial
    and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle
    development; in this it is functionally redundant with EYA2
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Catalytic activity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate

         Genatlas biochemistry entry for EYA1:
    Drosophila eyes absent gene (eya),homolog 1 with two transcripts,(EYA1A),highly expressed in fetal kidney,adult
    heart and skeletal muscle (4.4 kb isoform) and two more alternatively spliced isoforms differing from EYA1A by
    their N termini

         Enzyme Numbers (IUBMB): EC 3.1.3.481 2 EC 3.1.3.161

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004725protein tyrosine phosphatase activity IDA19234442
    GO:0005515protein binding IPI15141091
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with EYA1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for EYA1:
     Decreased DCP1a protein expres  Increased cell number in G1, a  Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Eya1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with EYA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Eya1tm1Rilm for EYA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EYA1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EYA1

    miRNA
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    miRTarBase miRNAs that target EYA1:
    hsa-mir-562 (MIRT000035)

    Block miRNA regulation of human, mouse, rat EYA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EYA1 (see all 43):
    hsa-miR-411* hsa-miR-379* hsa-miR-15a hsa-miR-513a-5p hsa-miR-503 hsa-miR-3138 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidEYA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EYA1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): EYA1 (NM_172060)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EYA1_HUMAN, Q99502: Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    golgi apparatus1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19234442
    GO:0005737cytoplasm IDA19497856

    Find genes that share ontologies with EYA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EYA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer


    Find genes that share SuperPaths with EYA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for EYA1):
        Transcriptional misregulation in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EYA1
    Interactions:

        GeneGlobe Interaction Network for EYA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EYA1 (Q995023 ENSP000003426264) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIX2Q9NPC83, ENSP000003045024I2D: score=2 STRING: ENSP00000304502
    DACH1Q9UI363, ENSP000003527124I2D: score=1 STRING: ENSP00000352712
    H2AFXP161043, ENSP000003643104I2D: score=1 STRING: ENSP00000364310
    SIX3O953433, ENSP000002606534I2D: score=1 STRING: ENSP00000260653
    SIX1Q154753, ENSP000002471824I2D: score=3 STRING: ENSP00000247182
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation IEA--
    GO:0001656metanephros development IEA--
    GO:0001657ureteric bud development ----
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0003151outflow tract morphogenesis IEA--

    Find genes that share ontologies with EYA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EYA1

    3 HMDB Compounds for EYA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EYA1 gene (6 alternative transcripts): 
    NM_000503.5  NM_001288574.1  NM_001288575.1  NM_172058.3  NM_172059.3  NM_172060.3  

    Unigene Cluster for EYA1:

    Eyes absent homolog 1 (Drosophila)
    Hs.491997  [show with all ESTs]
    Unigene Representative Sequence: NM_000503
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388742(uc003xys.4 uc003xyr.4 uc010lzf.3) ENST00000465115
    ENST00000340726(uc003xyu.3 uc011lfe.2 uc003xyv.3) ENST00000303824
    ENST00000388741 ENST00000388743 ENST00000496494 ENST00000419131 ENST00000493349
    ENST00000422295 ENST00000388740(uc003xyt.4)
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    hsa-miR-411* hsa-miR-379* hsa-miR-15a hsa-miR-513a-5p hsa-miR-503 hsa-miR-3138 hsa-miR-219-5p hsa-miR-508-3p
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      QuantiFast Probe-based Assays in human, mouse, rat EYA1

    Additional mRNA sequence: 

    AF467247.1 AJ000097.1 AJ000098.1 AK127798.1 AK295897.1 AK307379.1 BC121798.1 BC121799.1 

    6 DOTS entries:

    DT.408192  DT.100783554  DT.97835081  DT.101980681  DT.121478704  DT.100688443 

    Selected AceView cDNA sequences (see all 35):

    NM_172058 N22283 NM_172059 BE328673 BX331457 NM_000503 CD103918 N68329 
    BX101134 AF467247 NM_172060 BM979759 BX327587 AW769640 CB306791 BX350798 
    AK127798 AW204259 CD512369 BQ003809 BU853239 AJ000098 BX951734 BQ223588 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EYA1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
    SP1:                    -                                                                                                                                       
    SP2:                    -                             -                 -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                    -                                   -                                                   
    SP5:                    -           -                                                                                                                           


    ECgene alternative splicing isoforms for EYA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EYA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCGGAGAC
    EYA1 Expression
    About this image


    EYA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Interstitial Stroma
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Intermediate mesoderm-like cells
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Lens Placode Cells Lens Placode
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    EYA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EYA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491997

    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
    Tissue specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in
    lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No
    expression in eye or kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EYA1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eya11 , 5 eyes absent 1 homolog (Drosophila)1, 5 90.52(n)1
    96.42(a)1
      1 (4.31 cM)5
    140481  NM_010164.21  NP_034294.21 
     141689585 
    chicken
    (Gallus gallus)
    Aves EYA11 eyes absent homolog 1 (Drosophila) 86.49(n)
    96.45(a)
      395718  XM_418290.4  XP_418290.4 
    lizard
    (Anolis carolinensis)
    Reptilia EYA16
    eyes absent homolog 1 (Drosophila)
    92(a)
    1 ↔ 1
    4(32602139-32705038)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.7792 Xenopus laevis eyes absent-1 alpha mRNA, complete cds less 85.01(n)    AF352029.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eya12 eyes absent homolog 1 79.6(n)   30436  AF118106.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eya3 eye-antennal disc metamorphosis
    hydrolase
    64(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea eya-11 eya-1 43.38(n)
    32.68(a)
      173293  NM_001025885.2  NP_001021056.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EYA1 EYA 45.28(n)
    36.25(a)
      818099  NM_129084.2  NP_565803.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01101001 Os06g0110100 49.09(n)
    40.93(a)
      4339886  NM_001063115.1  NP_001056580.1 


    ENSEMBL Gene Tree for EYA1 (if available)
    TreeFam Gene Tree for EYA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EYA1 gene
    EYA32  EYA42  EYA22  
    4 SIMAP similar genes for EYA1 using alignment to 8 protein entries:     EYA1_HUMAN (see all proteins):
    EYA4    Eab1    EYA2    EYA3

    Find genes that share paralogs with EYA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EYA1 (see all 3270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918388401,2,,4
    CBranchiootic syndrome 1 (BOS1)4 --72311844(+) GCTGCC/TGGTCA 8 S G mis10--------
    VAR_0649474
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0649472 M T mis40--------
    VAR_0649424
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0649422 P S mis40--------
    VAR_0168674
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0168672 R Q mis40--------
    VAR_0052034
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0052032 S P mis40--------
    VAR_0168684
    Anterior segment anomalies with or without cataract (ASA)4--see VAR_0168682 R G mis40--------
    VAR_0649434
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0649432 G S mis40--------
    VAR_0649464
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0649462 Y C mis40--------
    VAR_0168644
    Anterior segment anomalies with or without cataract (ASA)4--see VAR_0168642 E K mis40--------
    VAR_0649454
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0649452 L P mis40--------

    HapMap Linkage Disequilibrium report for EYA1 (72109668 - 72274467 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EYA1 (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1292e199CNV Deletion23128226
    esv995470CNV Deletion20482838
    esv2737146CNV Deletion23290073
    esv2421699CNV Deletion20811451
    esv2737147CNV Deletion23290073
    esv1006917CNV Deletion20482838
    esv1250988CNV Insertion17803354
    esv274288CNV Insertion20981092
    esv271923CNV Insertion20981092
    dgv1188n67CNV Loss20364138

    Human Gene Mutation Database (HGMD): EYA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EYA1
    DNA2.0 Custom Variant and Variant Library Synthesis for EYA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601653   
    OMIM disorders: 113650  602588  166780  
    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
  • Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or
    cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle
    or inner ear, and renal malformations. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Otofaciocervical syndrome 1 (OFC1) [MIM:166780]: A disorder characterized by facial dysmorphism,
    cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including
    vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial
    cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects
    of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear
    canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic
    anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are
    absent in branchiootic syndrome patients. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by
    various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of
    anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the
    pupillary membrane. Some patients have cataract. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 15 diseases for EYA1:    
    About MalaCards
    brachiootic syndrome 3    branchiootic syndrome    anterior segment anomalies with or without cataract    eya1-related branchiootorenal spectrum disorders
    branchiootic syndrome 1    townes-brocks syndrome    laryngomalacia    branchiootorenal syndrome
    branchiootorenal syndrome 1, with or without cataracts    branchiooculofacial syndrome    otofaciocervical syndrome    branchiootorenal spectrum disorders
    goldenhar syndrome    lacrimal duct obstruction    microtia

    4 diseases from the University of Copenhagen DISEASES database for EYA1:
    Branchiootorenal syndrome     Lacrimal duct obstruction     Branchiooculofacial syndrome     Renal agenesis

    Find genes that share disorders with EYA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EYA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bor syndrome 99 80 11409867 (4), 17049623 (4), 17364338 (4), 19667416 (3) (see all 38)
    bo syndrome 95.5 10 11683347 (2), 18763178 (2), 9359046 (2), 16813606 (2) (see all 5)
    renal anomaly 93 4 11465802 (1), 10072433 (1), 11734542 (1), 18177466 (1)
    bof syndrome 91 1 10767004 (1)
    ear malformation 85.4 1 11558900 (1)
    branchio-oculo-facial syndrome 84.9 1 10767004 (1)
    townes-brocks syndrome 72.2 1 16971658 (1)
    congenital deafness 52.9 1 12701758 (1)
    congenital cataract 42.7 2 15802522 (1), 10655545 (1)
    fistula 16.9 1 12701758 (1)

    GeneTests: EYA1
    GeneReviews: EYA1
    Genetic Association Database (GAD): EYA1
    Human Genome Epidemiology (HuGE) Navigator: EYA1 (3 documents)

    Export disorders for EYA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EYA1 gene, integrated from 10 sources (see all 118):
    (articles sorted by number of sources associating them with EYA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. (PubMed id 9020840)1, 2, 3, 9 Abdelhak S.... Petit C. (Nat. Genet. 1997)
    2. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. (PubMed id 11409867)1, 2, 9 Rickard S.... Bitner-Glindzicz M. (Hum. Genet. 2001)
    3. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. (PubMed id 9361030)1, 2, 9 Abdelhak S.... Weil D. (Hum. Mol. Genet. 1997)
    4. BOR and BO syndromes are allelic defects of EYA1. (PubMed id 9359046)1, 2, 9 Vincent C.... Petit C. (Eur. J. Hum. Genet. 1997)
    5. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. (PubMed id 10655545)1, 2, 9 Azuma N.... Yamada M. (Hum. Mol. Genet. 2000)
    6. Point mutation of an EYA1-gene splice site in a patient with oto- facio-cervical syndrome. (PubMed id 16441263)1, 2, 9 Estefania E.... Vilches C. (Ann. Hum. Genet. 2006)
    7. Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. (PubMed id 11558900)1, 2, 9 Namba A.... Usami S. (J. Hum. Genet. 2001)
    8. Mutation of the EYA1 gene in patients with branchio-oto syndrome. (PubMed id 12701758)1, 2, 9 Yashima T.... Kitamura K. (Acta Oto-Laryngol. 2003)
    9. Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. (PubMed id 10464653)1, 2, 9 Kumar S....Kimberling W.J. (Genet. Test. 1997)
    10. Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. (PubMed id 16691597)1, 2, 9 Spruijt L.... de Die-Smulders C.E.M. (Am. J. Med. Genet. A 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2138 HGNC: 3519 AceView: EYA1 Ensembl:ENSG00000104313 euGenes: HUgn2138
    ECgene: EYA1 Kegg: 2138 H-InvDB: EYA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EYA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EYA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EYA1 gene:
    Search GeneIP for patents involving EYA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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