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Q99502

- EYA1_HUMAN

UniProt

Q99502 - EYA1_HUMAN

Protein

Eyes absent homolog 1

Gene

EYA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    Functioni

    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 EYA2.1 Publication

    Catalytic activityi

    Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.1 Publication
    [a protein]-serine/threonine phosphate + H2O = [a protein]-serine/threonine + phosphate.1 Publication

    Cofactori

    Binds 1 Mg2+ ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei328 – 3281NucleophileCurated
    Metal bindingi328 – 3281MagnesiumBy similarity
    Active sitei330 – 3301Proton donorBy similarity
    Metal bindingi330 – 3301MagnesiumBy similarity
    Metal bindingi556 – 5561MagnesiumBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. protein binding Source: UniProtKB
    3. protein tyrosine phosphatase activity Source: UniProtKB
    4. RNA binding Source: Ensembl

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. aorta morphogenesis Source: Ensembl
    3. branching involved in ureteric bud morphogenesis Source: Ensembl
    4. cellular protein localization Source: Ensembl
    5. cochlea morphogenesis Source: Ensembl
    6. double-strand break repair Source: UniProtKB
    7. embryonic skeletal system morphogenesis Source: Ensembl
    8. establishment of mitotic spindle orientation Source: Ensembl
    9. establishment or maintenance of apical/basal cell polarity Source: Ensembl
    10. histone dephosphorylation Source: UniProtKB
    11. lung epithelial cell differentiation Source: Ensembl
    12. metanephros development Source: Ensembl
    13. middle ear morphogenesis Source: Ensembl
    14. negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
    15. neuron fate specification Source: Ensembl
    16. otic vesicle morphogenesis Source: Ensembl
    17. outer ear morphogenesis Source: Ensembl
    18. outflow tract morphogenesis Source: Ensembl
    19. pattern specification process Source: Ensembl
    20. pharyngeal system development Source: Ensembl
    21. positive regulation of DNA repair Source: UniProtKB
    22. positive regulation of epithelial cell proliferation Source: Ensembl
    23. positive regulation of Notch signaling pathway Source: Ensembl
    24. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
    25. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    26. protein sumoylation Source: UniProtKB
    27. regulation of neuron differentiation Source: Ensembl
    28. response to ionizing radiation Source: UniProtKB
    29. semicircular canal morphogenesis Source: Ensembl
    30. sensory perception of sound Source: ProtInc
    31. striated muscle tissue development Source: Ensembl
    32. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase

    Keywords - Biological processi

    DNA damage, DNA repair, Transcription, Transcription regulation

    Keywords - Ligandi

    Magnesium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Eyes absent homolog 1 (EC:3.1.3.16, EC:3.1.3.48)
    Gene namesi
    Name:EYA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:3519. EYA1.

    Subcellular locationi

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

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti95 – 951P → S in BOR1. 1 Publication
    VAR_064942
    Natural varianti140 – 1401G → S in BOR1. 1 Publication
    VAR_064943
    Natural varianti363 – 3631E → V in BOR1. 1 Publication
    VAR_064944
    Natural varianti426 – 4261G → S in BOR1; with cataract. 1 Publication
    VAR_016865
    Natural varianti429 – 4291D → G in BOR1. 1 Publication
    VAR_016866
    Natural varianti440 – 4401R → Q in BOR1. 2 Publications
    VAR_016867
    Natural varianti487 – 4871S → P in BOR1. 1 Publication
    VAR_005203
    Natural varianti505 – 5051L → R in BOR1. 1 Publication
    VAR_005204
    Natural varianti514 – 5141L → P in BOR1. 1 Publication
    VAR_064945
    Natural varianti527 – 5271Y → C in BOR1. 1 Publication
    VAR_064946
    Natural varianti569 – 5691M → T in BOR1. 1 Publication
    VAR_064947
    Natural varianti583 – 5831L → P in BOR1. 1 Publication
    VAR_016869
    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.2 Publications
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti242 – 2421S → G in BOS1. 1 Publication
    Corresponds to variant rs191838840 [ dbSNP | Ensembl ].
    VAR_044452
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti363 – 3631E → K in ASA. 1 Publication
    VAR_016864
    Natural varianti547 – 5471R → G in ASA; with cataract. 1 Publication
    VAR_016868

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi328 – 3281D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Mental retardation

    Organism-specific databases

    MIMi113650. phenotype.
    166780. phenotype.
    602588. phenotype.
    Orphaneti107. BOR syndrome.
    52429. Branchio-otic syndrome.
    2792. Otofaciocervical syndrome.
    PharmGKBiPA27931.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 592592Eyes absent homolog 1PRO_0000218643Add
    BLAST

    Post-translational modificationi

    Sumoylated with SUMO1.By similarity

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    PaxDbiQ99502.
    PRIDEiQ99502.

    PTM databases

    PhosphoSiteiQ99502.

    Expressioni

    Tissue specificityi

    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.

    Developmental stagei

    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.1 Publication

    Gene expression databases

    ArrayExpressiQ99502.
    BgeeiQ99502.
    CleanExiHS_EYA1.
    GenevestigatoriQ99502.

    Interactioni

    Subunit structurei

    Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage By similarity.By similarity

    Protein-protein interaction databases

    BioGridi108439. 6 interactions.
    DIPiDIP-60446N.
    STRINGi9606.ENSP00000342626.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99502.
    SMRiQ99502. Positions 322-592.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG297494.
    HOGENOMiHOG000293149.
    HOVERGENiHBG002447.
    InParanoidiQ99502.
    KOiK15616.
    OMAiGQPYGIS.
    OrthoDBiEOG7DNNTZ.
    PhylomeDBiQ99502.
    TreeFamiTF319337.

    Family and domain databases

    InterProiIPR006545. EYA_dom.
    IPR028472. EYA_fam.
    IPR028471. Eyes_absent_h1.
    [Graphical view]
    PANTHERiPTHR10190. PTHR10190. 1 hit.
    PTHR10190:SF11. PTHR10190:SF11. 1 hit.
    TIGRFAMsiTIGR01658. EYA-cons_domain. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform EYA1A (identifier: Q99502-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS    50
    ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT 100
    PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG 150
    GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN 200
    SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP 250
    STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD 300
    GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR 350
    DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS 400
    TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN 450
    NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV 500
    TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV 550
    YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL 592
    Length:592
    Mass (Da):64,593
    Last modified:July 15, 1998 - v2
    Checksum:iD62365F81EB692E2
    GO
    Isoform EYA1B (identifier: Q99502-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTE → MLLFPQVA

    Show »
    Length:559
    Mass (Da):61,211
    Checksum:i6B638C22438309A8
    GO
    Isoform EYA1D (identifier: Q99502-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         140-144: Missing.
         351-380: Missing.

    Show »
    Length:557
    Mass (Da):60,660
    Checksum:i7AAB97F0AAE440CC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331N → D in AAL73437. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201P → A.
    Corresponds to variant rs1445404 [ dbSNP | Ensembl ].
    VAR_024439
    Natural varianti41 – 411E → K Found in a patient with congenital cataract. 1 Publication
    VAR_070033
    Natural varianti95 – 951P → S in BOR1. 1 Publication
    VAR_064942
    Natural varianti140 – 1401G → S in BOR1. 1 Publication
    VAR_064943
    Natural varianti242 – 2421S → G in BOS1. 1 Publication
    Corresponds to variant rs191838840 [ dbSNP | Ensembl ].
    VAR_044452
    Natural varianti363 – 3631E → K in ASA. 1 Publication
    VAR_016864
    Natural varianti363 – 3631E → V in BOR1. 1 Publication
    VAR_064944
    Natural varianti426 – 4261G → S in BOR1; with cataract. 1 Publication
    VAR_016865
    Natural varianti429 – 4291D → G in BOR1. 1 Publication
    VAR_016866
    Natural varianti440 – 4401R → Q in BOR1. 2 Publications
    VAR_016867
    Natural varianti487 – 4871S → P in BOR1. 1 Publication
    VAR_005203
    Natural varianti505 – 5051L → R in BOR1. 1 Publication
    VAR_005204
    Natural varianti514 – 5141L → P in BOR1. 1 Publication
    VAR_064945
    Natural varianti527 – 5271Y → C in BOR1. 1 Publication
    VAR_064946
    Natural varianti547 – 5471R → G in ASA; with cataract. 1 Publication
    VAR_016868
    Natural varianti569 – 5691M → T in BOR1. 1 Publication
    VAR_064947
    Natural varianti583 – 5831L → P in BOR1. 1 Publication
    VAR_016869

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4141MEMQD…PNGTE → MLLFPQVA in isoform EYA1B. CuratedVSP_001486Add
    BLAST
    Alternative sequencei140 – 1445Missing in isoform EYA1D. 1 PublicationVSP_045793
    Alternative sequencei351 – 38030Missing in isoform EYA1D. 1 PublicationVSP_045794Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y10260 Genomic DNA. Translation: CAA71309.1.
    AJ000097 mRNA. Translation: CAA03922.1.
    AJ000098 mRNA. Translation: CAA03923.1.
    AF467247 mRNA. Translation: AAL73437.1.
    AC016465 Genomic DNA. No translation available.
    AC022858 Genomic DNA. No translation available.
    CH471068 Genomic DNA. Translation: EAW86976.1.
    BC121799 mRNA. Translation: AAI21800.1.
    CCDSiCCDS34906.1. [Q99502-1]
    CCDS34907.1. [Q99502-3]
    CCDS47873.1. [Q99502-2]
    RefSeqiNP_000494.2. NM_000503.5. [Q99502-1]
    NP_001275503.1. NM_001288574.1.
    NP_001275504.1. NM_001288575.1.
    NP_742055.1. NM_172058.3. [Q99502-1]
    NP_742056.1. NM_172059.3. [Q99502-3]
    NP_742057.1. NM_172060.3. [Q99502-2]
    XP_006716499.1. XM_006716436.1. [Q99502-2]
    UniGeneiHs.491997.

    Genome annotation databases

    EnsembliENST00000340726; ENSP00000342626; ENSG00000104313. [Q99502-1]
    ENST00000388740; ENSP00000373392; ENSG00000104313. [Q99502-2]
    ENST00000388742; ENSP00000373394; ENSG00000104313. [Q99502-1]
    ENST00000419131; ENSP00000410176; ENSG00000104313. [Q99502-3]
    GeneIDi2138.
    KEGGihsa:2138.
    UCSCiuc003xyr.4. human.
    uc003xys.4. human. [Q99502-1]
    uc003xyt.4. human. [Q99502-2]

    Polymorphism databases

    DMDMi3183005.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y10260 Genomic DNA. Translation: CAA71309.1 .
    AJ000097 mRNA. Translation: CAA03922.1 .
    AJ000098 mRNA. Translation: CAA03923.1 .
    AF467247 mRNA. Translation: AAL73437.1 .
    AC016465 Genomic DNA. No translation available.
    AC022858 Genomic DNA. No translation available.
    CH471068 Genomic DNA. Translation: EAW86976.1 .
    BC121799 mRNA. Translation: AAI21800.1 .
    CCDSi CCDS34906.1. [Q99502-1 ]
    CCDS34907.1. [Q99502-3 ]
    CCDS47873.1. [Q99502-2 ]
    RefSeqi NP_000494.2. NM_000503.5. [Q99502-1 ]
    NP_001275503.1. NM_001288574.1.
    NP_001275504.1. NM_001288575.1.
    NP_742055.1. NM_172058.3. [Q99502-1 ]
    NP_742056.1. NM_172059.3. [Q99502-3 ]
    NP_742057.1. NM_172060.3. [Q99502-2 ]
    XP_006716499.1. XM_006716436.1. [Q99502-2 ]
    UniGenei Hs.491997.

    3D structure databases

    ProteinModelPortali Q99502.
    SMRi Q99502. Positions 322-592.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108439. 6 interactions.
    DIPi DIP-60446N.
    STRINGi 9606.ENSP00000342626.

    PTM databases

    PhosphoSitei Q99502.

    Polymorphism databases

    DMDMi 3183005.

    Proteomic databases

    PaxDbi Q99502.
    PRIDEi Q99502.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340726 ; ENSP00000342626 ; ENSG00000104313 . [Q99502-1 ]
    ENST00000388740 ; ENSP00000373392 ; ENSG00000104313 . [Q99502-2 ]
    ENST00000388742 ; ENSP00000373394 ; ENSG00000104313 . [Q99502-1 ]
    ENST00000419131 ; ENSP00000410176 ; ENSG00000104313 . [Q99502-3 ]
    GeneIDi 2138.
    KEGGi hsa:2138.
    UCSCi uc003xyr.4. human.
    uc003xys.4. human. [Q99502-1 ]
    uc003xyt.4. human. [Q99502-2 ]

    Organism-specific databases

    CTDi 2138.
    GeneCardsi GC08M072159.
    GeneReviewsi EYA1.
    HGNCi HGNC:3519. EYA1.
    MIMi 113650. phenotype.
    166780. phenotype.
    601653. gene.
    602588. phenotype.
    neXtProti NX_Q99502.
    Orphaneti 107. BOR syndrome.
    52429. Branchio-otic syndrome.
    2792. Otofaciocervical syndrome.
    PharmGKBi PA27931.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297494.
    HOGENOMi HOG000293149.
    HOVERGENi HBG002447.
    InParanoidi Q99502.
    KOi K15616.
    OMAi GQPYGIS.
    OrthoDBi EOG7DNNTZ.
    PhylomeDBi Q99502.
    TreeFami TF319337.

    Miscellaneous databases

    GeneWikii EYA1.
    GenomeRNAii 2138.
    NextBioi 8639.
    PROi Q99502.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99502.
    Bgeei Q99502.
    CleanExi HS_EYA1.
    Genevestigatori Q99502.

    Family and domain databases

    InterProi IPR006545. EYA_dom.
    IPR028472. EYA_fam.
    IPR028471. Eyes_absent_h1.
    [Graphical view ]
    PANTHERi PTHR10190. PTHR10190. 1 hit.
    PTHR10190:SF11. PTHR10190:SF11. 1 hit.
    TIGRFAMsi TIGR01658. EYA-cons_domain. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1."
      Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Levi-Acobas F., Cruaud C., le Merrer M., Mathieu M., Koenig R., Vigneron J., Weissenbach J., Petit C., Weil D.
      Hum. Mol. Genet. 6:2247-2255(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS BOR1 PRO-487 AND ARG-505.
      Tissue: Embryo.
    2. "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family."
      Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Weil D., Cruaud C., Sahly I., Leibovici M., Bitner-Glindzicz M., Francis M., Lacombe D., Vigneron J., Charachon R., Boven K., Bedbeder P., van Regemorter N., Weissenbach J., Petit C.
      Nat. Genet. 15:157-164(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM EYA1A).
      Tissue: Embryo.
    3. "EYA1D, a novel EYA1 isoform."
      Vervoort V.S., Schwartz C.E.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM EYA1D), ALTERNATIVE SPLICING.
      Tissue: Kidney.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "BOR and BO syndromes are allelic defects of EYA1."
      Vincent C., Kalatzis V., Abdelhak S., Chaib H., Compain S., Helias J., Vaneecloo F.M., Petit C.
      Eur. J. Hum. Genet. 5:242-246(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BOS1.
    8. "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."
      Rickard S., Parker M., van't Hoff W., Barnicoat A., Russell-Eggitt I., Winter R.M., Bitner-Glindzicz M.
      Hum. Genet. 108:398-403(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN OFC1.
    9. Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
    10. "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome."
      Estefania E., Ramirez-Camacho R., Gomar M., Trinidad A., Arellano B., Garcia-Berrocal J.R., Verdaguer J.M., Vilches C.
      Ann. Hum. Genet. 70:140-144(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN OFC1.
    11. "Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum."
      Spruijt L., Hoefsloot L.H., van Schaijk G.H.W.H., van Waardenburg D., Kremer B., Brackel H.J.L., de Die-Smulders C.E.M.
      Am. J. Med. Genet. A 140:1343-1345(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BOS1.
    12. "Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions."
      Cook P.J., Ju B.G., Telese F., Wang X., Glass C.K., Rosenfeld M.G.
      Nature 458:591-596(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-328.
    13. "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing."
      Kumar S., Deffenbacher K., Cremers C.W.R.J., Van Camp G., Kimberling W.J.
      Genet. Test. 1:243-251(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOR1 GLN-440.
    14. "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies."
      Azuma N., Hirakiyama A., Inoue T., Asaka A., Yamada M.
      Hum. Mol. Genet. 9:363-366(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASA LYS-363 AND GLY-547, VARIANT BOR1 SER-426.
    15. "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes."
      Rickard S., Boxer M., Trompeter R., Bitner-Glindzicz M.
      J. Med. Genet. 37:623-627(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOR1 PRO-583.
    16. "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis."
      Namba A., Abe S., Shinkawa H., Kimberling W.J., Usami S.
      J. Hum. Genet. 46:518-521(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOR1 GLY-429.
    17. "Mutation of the EYA1 gene in patients with branchio-oto syndrome."
      Yashima T., Noguchi Y., Ishikawa K., Mizusawa H., Kitamura K.
      Acta Oto-Laryngol. 123:279-282(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOS1 GLY-242.
    18. "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations."
      Krug P., Moriniere V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L.
      Hum. Mutat. 32:183-190(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BOR1 SER-95; SER-140; VAL-363; GLN-440; PRO-514; CYS-527 AND THR-569.
    19. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
      Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S., Power P., Semina E.V.
      Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LYS-41.

    Entry informationi

    Entry nameiEYA1_HUMAN
    AccessioniPrimary (citable) accession number: Q99502
    Secondary accession number(s): A6NHQ0
    , G5E9R4, Q0P516, Q8WX80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3