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Entry version 174 (17 Jun 2020)
Sequence version 3 (16 Jun 2009)
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Protein

Eyes absent homolog 3

Gene

EYA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye.By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarityNote: Binds 1 Mg2+ ion per subunit.By similarity

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.8 µM for H2AXY142ph1 Publication
  2. KM=72 µM for H2AXS139ph1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei309NucleophileCurated1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi309MagnesiumBy similarity1
    Active sitei311Proton donorBy similarity1
    Metal bindingi311Magnesium; via carbonyl oxygenBy similarity1
    Metal bindingi537MagnesiumBy similarity1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionActivator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase
    Biological processDNA damage, DNA repair, Transcription, Transcription regulation
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q99504

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    Q99504

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Eyes absent homolog 3 (EC:3.1.3.482 Publications)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:EYA3
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000158161.15

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:3521 EYA3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    601655 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q99504

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi266S → A: Fails to form damage-dependent nuclear foci or interact with H2AX. 1 Publication1
    Mutagenesisi309D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    2140

    Open Targets

    More...
    OpenTargetsi
    ENSG00000158161

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA27933

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q99504 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    EYA3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    239938901

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002186481 – 573Eyes absent homolog 3Add BLAST573

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
    Modified residuei262PhosphoserineCombined sources1
    Modified residuei266Phosphoserine1 Publication1
    Modified residuei438PhosphoserineCombined sources1
    Modified residuei472PhosphoserineCombined sources1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Ser-266 phosphorylation is required for localization at sites of DNA damage and directing interaction with H2AX.1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q99504

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q99504

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q99504

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q99504

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q99504

    PeptideAtlas

    More...
    PeptideAtlasi
    Q99504

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q99504

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    4324
    4738
    70790
    78305 [Q99504-1]
    78306 [Q99504-2]

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    Q99504-2 [Q99504-2]

    PTM databases

    DEPOD human dephosphorylation database

    More...
    DEPODi
    Q99504

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q99504

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q99504

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000158161 Expressed in kidney and 197 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q99504 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q99504 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000158161 Low tissue specificity

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts with SIX1 and DACH1, and probably SIX2, SIX4, SIX5.

    By similarity

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    108441, 46 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-60448N

    Protein interaction database and analysis system

    More...
    IntActi
    Q99504, 6 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000362978

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    Q99504

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q99504 protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q99504

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    ENOG410IR14 Eukaryota
    ENOG410XQHR LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00950000182978

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_021184_2_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q99504

    KEGG Orthology (KO)

    More...
    KOi
    K17621

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    DPATMLN

    Database of Orthologous Groups

    More...
    OrthoDBi
    1030296at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q99504

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF319337

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd02601 HAD_Eya, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.50.12350, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR028479 EYA3
    IPR006545 EYA_dom
    IPR042577 EYA_dom_metazoan
    IPR038102 EYA_dom_sf
    IPR028472 EYA_fam

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10190 PTHR10190, 1 hit
    PTHR10190:SF5 PTHR10190:SF5, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01658 EYA-cons_domain, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q99504-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
            10         20         30         40         50
    MEEEQDLPEQ PVKKAKMQES GEQTISQVSN PDVSDQKPET SSLASNLPMS
    60 70 80 90 100
    EEIMTCTDYI PRSSNDYTSQ MYSAKPYAHI LSVPVSETAY PGQTQYQTLQ
    110 120 130 140 150
    QTQPYAVYPQ ATQTYGLPPF GALWPGMKPE SGLIQTPSPS QHSVLTCTTG
    160 170 180 190 200
    LTTSQPSPAH YSYPIQASST NASLISTSST IANIPAAAVA SISNQDYPTY
    210 220 230 240 250
    TILGQNQYQA CYPSSSFGVT GQTNSDAEST TLAATTYQSE KPSVMAPAPA
    260 270 280 290 300
    AQRLSSGDPS TSPSLSQTTP SKDTDDQSRK NMTSKNRGKR KADATSSQDS
    310 320 330 340 350
    ELERVFLWDL DETIIIFHSL LTGSYAQKYG KDPTVVIGSG LTMEEMIFEV
    360 370 380 390 400
    ADTHLFFNDL EECDQVHVED VASDDNGQDL SNYSFSTDGF SGSGGSGSHG
    410 420 430 440 450
    SSVGVQGGVD WMRKLAFRYR KVREIYDKHK SNVGGLLSPQ RKEALQRLRA
    460 470 480 490 500
    EIEVLTDSWL GTALKSLLLI QSRKNCVNVL ITTTQLVPAL AKVLLYGLGE
    510 520 530 540 550
    IFPIENIYSA TKIGKESCFE RIVSRFGKKV TYVVIGDGRD EEIAAKQHNM
    560 570
    PFWRITNHGD LVSLHQALEL DFL
    Length:573
    Mass (Da):62,663
    Last modified:June 16, 2009 - v3
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i684B961B1E630371
    GO
    Isoform 2 (identifier: Q99504-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-126: Missing.

    Show »
    Length:447
    Mass (Da):48,652
    Checksum:i129E0A20B4A7BA2F
    GO
    Isoform 3 (identifier: Q99504-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         121-166: Missing.
         548-572: HNMPFWRITNHGDLVSLHQALELDF → QLYFLDMEALGCQLEPTALILFIQLSGNLSNYNK

    Show »
    Length:536
    Mass (Da):58,697
    Checksum:i7F502740058138F7
    GO
    Isoform 4 (identifier: Q99504-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-53: Missing.

    Show »
    Length:520
    Mass (Da):56,805
    Checksum:iEE85E9F3F4E00708
    GO
    Isoform 5 (identifier: Q99504-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         121-166: Missing.

    Show »
    Length:527
    Mass (Da):57,827
    Checksum:i33DA17379017618E
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B1APR7B1APR7_HUMAN
    Eyes absent homolog
    EYA3
    416Annotation score:

    Annotation score:3 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti105Y → D in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti142H → R in AAB42066 (PubMed:9049631).Curated1
    Sequence conflicti151L → V in AAB42066 (PubMed:9049631).Curated1
    Sequence conflicti253R → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti268T → S in AAB42066 (PubMed:9049631).Curated1
    Sequence conflicti283T → N in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti290R → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti305V → L in AAB42066 (PubMed:9049631).Curated1
    Sequence conflicti345E → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti357F → S in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti361E → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti373 – 381SDDNGQDLS → PNDKGQNLN in CAA71311 (PubMed:9020840).Curated9
    Sequence conflicti388D → N in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti447 – 449RLR → KLK in CAA71311 (PubMed:9020840).Curated3
    Sequence conflicti457D → N in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti473R → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti480L → P in AAB42066 (PubMed:9049631).Curated1
    Sequence conflicti487V → L in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti500E → K in CAA71311 (PubMed:9020840).Curated1
    Sequence conflicti524 – 526SRF → TSL in CAA71311 (PubMed:9020840).Curated3
    Sequence conflicti530V → L in CAA71311 (PubMed:9020840).Curated1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0014931 – 126Missing in isoform 2. 1 PublicationAdd BLAST126
    Alternative sequenceiVSP_0545301 – 53Missing in isoform 4. 1 PublicationAdd BLAST53
    Alternative sequenceiVSP_054518121 – 166Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST46
    Alternative sequenceiVSP_054519548 – 572HNMPF…LELDF → QLYFLDMEALGCQLEPTALI LFIQLSGNLSNYNK in isoform 3. 1 PublicationAdd BLAST25

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    Y10262 Genomic DNA Translation: CAA71311.1
    U81602 mRNA Translation: AAB42066.1
    AK289805 mRNA Translation: BAF82494.1
    AK295745 mRNA Translation: BAG58579.1
    AK298129 mRNA Translation: BAG60409.1
    AL137792 Genomic DNA No translation available.
    AL512288 Genomic DNA No translation available.
    CH471059 Genomic DNA Translation: EAX07713.1
    CH471059 Genomic DNA Translation: EAX07714.1
    BC041667 mRNA Translation: AAH41667.1
    AJ007991 mRNA Translation: CAA07814.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS316.1 [Q99504-1]
    CCDS60050.1 [Q99504-4]
    CCDS60051.1 [Q99504-5]
    CCDS60052.1 [Q99504-3]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001269489.1, NM_001282560.1 [Q99504-3]
    NP_001269490.1, NM_001282561.1 [Q99504-5]
    NP_001269491.1, NM_001282562.1 [Q99504-4]
    NP_001981.2, NM_001990.3 [Q99504-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000373863; ENSP00000362970; ENSG00000158161 [Q99504-3]
    ENST00000373871; ENSP00000362978; ENSG00000158161 [Q99504-1]
    ENST00000436342; ENSP00000405587; ENSG00000158161 [Q99504-4]
    ENST00000540618; ENSP00000442558; ENSG00000158161 [Q99504-5]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    2140

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:2140

    UCSC genome browser

    More...
    UCSCi
    uc001bpi.3 human [Q99504-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    Y10262 Genomic DNA Translation: CAA71311.1
    U81602 mRNA Translation: AAB42066.1
    AK289805 mRNA Translation: BAF82494.1
    AK295745 mRNA Translation: BAG58579.1
    AK298129 mRNA Translation: BAG60409.1
    AL137792 Genomic DNA No translation available.
    AL512288 Genomic DNA No translation available.
    CH471059 Genomic DNA Translation: EAX07713.1
    CH471059 Genomic DNA Translation: EAX07714.1
    BC041667 mRNA Translation: AAH41667.1
    AJ007991 mRNA Translation: CAA07814.1
    CCDSiCCDS316.1 [Q99504-1]
    CCDS60050.1 [Q99504-4]
    CCDS60051.1 [Q99504-5]
    CCDS60052.1 [Q99504-3]
    RefSeqiNP_001269489.1, NM_001282560.1 [Q99504-3]
    NP_001269490.1, NM_001282561.1 [Q99504-5]
    NP_001269491.1, NM_001282562.1 [Q99504-4]
    NP_001981.2, NM_001990.3 [Q99504-1]

    3D structure databases

    SMRiQ99504
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi108441, 46 interactors
    DIPiDIP-60448N
    IntActiQ99504, 6 interactors
    STRINGi9606.ENSP00000362978

    Chemistry databases

    BindingDBiQ99504

    PTM databases

    DEPODiQ99504
    iPTMnetiQ99504
    PhosphoSitePlusiQ99504

    Polymorphism and mutation databases

    BioMutaiEYA3
    DMDMi239938901

    Proteomic databases

    EPDiQ99504
    jPOSTiQ99504
    MassIVEiQ99504
    MaxQBiQ99504
    PaxDbiQ99504
    PeptideAtlasiQ99504
    PRIDEiQ99504
    ProteomicsDBi4324
    4738
    70790
    78305 [Q99504-1]
    78306 [Q99504-2]
    TopDownProteomicsiQ99504-2 [Q99504-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    16480 145 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    2140

    Genome annotation databases

    EnsembliENST00000373863; ENSP00000362970; ENSG00000158161 [Q99504-3]
    ENST00000373871; ENSP00000362978; ENSG00000158161 [Q99504-1]
    ENST00000436342; ENSP00000405587; ENSG00000158161 [Q99504-4]
    ENST00000540618; ENSP00000442558; ENSG00000158161 [Q99504-5]
    GeneIDi2140
    KEGGihsa:2140
    UCSCiuc001bpi.3 human [Q99504-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    2140
    DisGeNETi2140
    EuPathDBiHostDB:ENSG00000158161.15

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    EYA3
    HGNCiHGNC:3521 EYA3
    HPAiENSG00000158161 Low tissue specificity
    MIMi601655 gene
    neXtProtiNX_Q99504
    OpenTargetsiENSG00000158161
    PharmGKBiPA27933

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiENOG410IR14 Eukaryota
    ENOG410XQHR LUCA
    GeneTreeiENSGT00950000182978
    HOGENOMiCLU_021184_2_1_1
    InParanoidiQ99504
    KOiK17621
    OMAiDPATMLN
    OrthoDBi1030296at2759
    PhylomeDBiQ99504
    TreeFamiTF319337

    Enzyme and pathway databases

    ReactomeiR-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
    SABIO-RKiQ99504
    SIGNORiQ99504

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    2140 1 hit in 790 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    EYA3 human

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    2140
    PharosiQ99504 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q99504
    RNActiQ99504 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000158161 Expressed in kidney and 197 other tissues
    ExpressionAtlasiQ99504 baseline and differential
    GenevisibleiQ99504 HS

    Family and domain databases

    CDDicd02601 HAD_Eya, 1 hit
    Gene3Di3.40.50.12350, 1 hit
    InterProiView protein in InterPro
    IPR028479 EYA3
    IPR006545 EYA_dom
    IPR042577 EYA_dom_metazoan
    IPR038102 EYA_dom_sf
    IPR028472 EYA_fam
    PANTHERiPTHR10190 PTHR10190, 1 hit
    PTHR10190:SF5 PTHR10190:SF5, 1 hit
    TIGRFAMsiTIGR01658 EYA-cons_domain, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEYA3_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99504
    Secondary accession number(s): A8K190
    , B4DIR7, B4DNZ7, O95463, Q8IVX7, Q99813
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: June 16, 2009
    Last modified: June 17, 2020
    This is version 174 of the entry and version 3 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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