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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EYA1 Gene

protein-coding   GIFtS: 65
GCID: GC08M072159

Eyes Absent Homolog 1 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 1)
(Previous symbol: BOR)
  See 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)
About This Section

Aliases
Eyes Absent Homolog 1 (Drosophila)1 2     BOP2
BOR1 2 5     BOS12
EC 3.1.3.483 8     Eyes Absent Homolog 12
Eyes Absent (Drosophila) Homolog 11     EC 3.1.3.163

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Four transcript
variants encoding three distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for EYA1 Gene: 
EYA1 (eyes absent homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with EYA1 include branchiogenic deafness syndrome, and eya1-related branchiootorenal spectrum disorders. GO annotations related to this gene include protein tyrosine phosphatase activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EYA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)
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:

  • UniProtKB: Sumoylated with SUMO1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99502

  • 4/9 DME Specific Peptides for EYA1 (Q99502) (see all 9)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 

    EYA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EYA1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000494.2  NP_742055.1  NP_742056.1  NP_742057.1  

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

    Human Recombinant Protein Products for EYA1: 
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    Novus Biologicals EYA1 Protein
    Novus Biologicals EYA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EYA1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    EYA1 for ontologies           About GeneDecksing



    EYA1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for EYA1 
    Cloud-Clone Corp. CLIAs for EYA1


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

    1 InterPro protein domain:
     IPR006545 EYA

    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


    EYA1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 phosphoprotein + H(2)O = a protein + 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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IDA19234442
    GO:0005515protein binding IPI15141091
    GO:0046872metal ion binding IEA--
         
    EYA1 for ontologies           About GeneDecksing


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

         15/20 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 

    EYA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Eya1tm1Rilm for EYA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EYA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EYA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EYA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EYA1 

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

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EYA1
    8/43 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of EYA1 

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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EYA1 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    EYA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EYA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for EYA1 (Q995023 ENSP000003426264) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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): 5/41 biological process terms (GO ID links to tree view) (see all 41):    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--

    EYA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about EYA1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EYA1 gene (4 alternative transcripts): 
    NM_000503.4  NM_172058.2  NM_172059.2  NM_172060.2  

    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)
    miRNA
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    8/43 QIAGEN miScript miRNA 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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      QIAGEN 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 

    24/35 AceView cDNA sequences (see all 35):

    NM_172058 BX331457 NM_000503 CD103918 NM_172059 NM_172060 N22283 N68329 
    AF467247 BE328673 BX101134 AJ000098 AJ000097 BX350798 BX327587 BQ223588 
    BU853239 BQ003809 BX951734 CD512369 AW769640 BM979759 AW204259 CB306791 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EYA1 expression in normal human tissues (normalized intensities)      EYA1 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Myoblasts Forelimb Dorsal Muscles
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Myoblasts Forelimb Dorsal Muscles
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Interstitial Stroma
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Adipose (Muscoskeletal System)
             Human Preadipocyte-visceral (HPA-v)   

    See EYA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EYA1

    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

        SABiosciences Custom PCR Arrays for EYA1
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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EYA1 gene from 9/17 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) 86.23(n)
    96.08(a)
      395718  XM_418290.3  XP_418290.3 
    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 eya1 , 3 eye-antennal disc metamorphosis
    hydrolase3
    eyes absent1
    64(a)3
    53.88(n)1
    58.99(a)1
      339161  NM_078768.31  NP_523492.11 
    worm
    (Caenorhabditis elegans)
    Secernentea eya-16
    Protein EYA-1, isoform a
    25(a)
    1 → many
    I(14220739-14231360)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EYA1 eyes absent-like protein 45.28(n)
    36.25(a)
      818099  NM_129084.2  NP_565803.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01101001 hypothetical protein 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)
    About This Section
    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

    EYA1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3269 SNPs in EYA1 are shown (see all 3269)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    VAR_0168654
    Branchiootorenal syndrome 1 (BOR1)4--see VAR_0168652 G S mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601653   
    OMIM disorders: 113650  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 (OFCS) [MIM:166780]: Characterized by trophic alterations of the facies and
    shoulder girdle in addition to the malformations seen in BOR. 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

  • 20/26 diseases for EYA1 (see all 26):    About MalaCards
    branchiogenic deafness syndrome    eya1-related branchiootorenal spectrum disorders    otofaciocervical syndrome    branchiootorenal syndrome
    branchiootorenal syndrome with cataract    laryngomalacia    branchiootic syndrome    townes-brocks syndrome
    branchiootorenal spectrum disorders    lacrimal duct obstruction    branchiooculofacial syndrome    enlarged vestibular aqueduct
    goldenhar syndrome    cataract    peters anomaly    renal dysplasia
    renal agenesis    fraser syndrome    malignant peripheral nerve sheath tumor    pharyngitis

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

    EYA1 for disorders           About GeneDecksing

    10/12 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)
    About This Section

    PubMed articles for EYA1 gene, integrated from 9 sources (see all 114):
    (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. (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. (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. (1997)
    4. BOR and BO syndromes are allelic defects of EYA1. (PubMed id 9359046)1, 2, 9 Vincent C.... Petit C. (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. (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. (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. (2001)
    8. Mutation of the EYA1 gene in patients with branchio-oto syndrome. (PubMed id 12701758)1, 2, 9 Yashima T....Kitamura K. (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. (1998)
    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. (2006)

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

      Query String
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      (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)
    About This Section
    Entrez Gene: 2138 HGNC: 3519 AceView: EYA1 Ensembl:ENSG00000104313 euGenes: HUgn2138
    ECgene: EYA1 Kegg: 2138 H-InvDB: EYA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EYA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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