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Protein

Eyes absent homolog 4

Gene

EYA4

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. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei375NucleophileBy similarity1
<p>This subsection of the ‘Function’ 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 bindingi375MagnesiumBy similarity1
Active sitei377Proton donorBy similarity1
Metal bindingi377Magnesium; via carbonyl oxygenBy similarity1
Metal bindingi603MagnesiumBy 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

  • metal ion binding Source: UniProtKB-KW
  • protein tyrosine phosphatase activity Source: GO_Central

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

<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_and_taxonomy_section">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 4 (EC:3.1.3.48By similarity)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:EYA4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000112319.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3522 EYA4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603550 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95677

<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; 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 10 (DFNA10)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:601316
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_074570171G → R in DFNA10. 1 PublicationCorresponds to variant dbSNP:rs1471362858Ensembl.1
Natural variantiVAR_079872288 – 639Missing in DFNA10. 1 PublicationAdd BLAST352
Natural variantiVAR_074571548T → R in DFNA10. 1 Publication1
Cardiomyopathy, dilated 1J (CMD1J)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.
See also OMIM:605362

Keywords - Diseasei

Cardiomyopathy, Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
2070

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EYA4

MalaCards human disease database

More...
MalaCardsi
EYA4
MIMi601316 phenotype
605362 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000112319

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
217622 Sensorineural deafness with dilated cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27934

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EYA4

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002186511 – 639Eyes absent homolog 4Add BLAST639

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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki14Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki52Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei361PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95677

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95677

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

More...
PaxDbi
O95677

PeptideAtlas

More...
PeptideAtlasi
O95677

PRoteomics IDEntifications database

More...
PRIDEi
O95677

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50990
50991 [O95677-2]
50992 [O95677-3]
50993 [O95677-4]
50994 [O95677-5]

PTM databases

DEPOD human dephosphorylation database

More...
DEPODi
O95677

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95677

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

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PhosphoSitePlusi
O95677

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112319 Expressed in 152 organ(s), highest expression level in biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_EYA4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95677 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95677 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA004805
HPA038771
HPA038772

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SIX3; translocates EYA4 from the cytoplasm to the nucleus and promotes activation of their target genes.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108382, 37 interactors

Protein interaction database and analysis system

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IntActi
O95677, 1 interactor

Molecular INTeraction database

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MINTi
O95677

STRING: functional protein association networks

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STRINGi
9606.ENSP00000347294

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O95677

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

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SMRi
O95677

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

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eggNOGi
KOG3107 Eukaryota
ENOG410XT12 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158271

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293149

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG002447

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95677

KEGG Orthology (KO)

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KOi
K17622

Database of Orthologous Groups

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OrthoDBi
1030296at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95677

TreeFam database of animal gene trees

More...
TreeFami
TF319337

Family and domain databases

Conserved Domains Database

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CDDi
cd02601 HAD_Eya, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.12350, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028478 EYA4
IPR006545 EYA_dom
IPR038102 EYA_dom_sf
IPR028472 EYA_fam

The PANTHER Classification System

More...
PANTHERi
PTHR10190 PTHR10190, 1 hit
PTHR10190:SF17 PTHR10190:SF17, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95677-1) [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
        10         20         30         40         50
MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS
60 70 80 90 100
SKLEKSNLSS TSVTTNGTGG ENMTVLNTAD WLLSCNTPSS ATMSLLAVKT
110 120 130 140 150
EPLNSSETTA TTGDGALDTF TGSVITSSGY SPRSAHQYSP QLYPSKPYPH
160 170 180 190 200
ILSTPAAQTM SAYAGQTQYS GMQQPAVYTA YSQTGQPYSL PTYDLGVMLP
210 220 230 240 250
AIKTESGLSQ TQSPLQSGCL SYSPGFSTPQ PGQTPYSYQM PGSSFAPSST
260 270 280 290 300
IYANNSVSNS TNFSGSQQDY PSYTAFGQNQ YAQYYSASTY GAYMTSNNTA
310 320 330 340 350
DGTPSSTSTY QLQESLPGLT NQPGEFDTMQ SPSTPIKDLD ERTCRSSGSK
360 370 380 390 400
SRGRGRKNNP SPPPDSDLER VFVWDLDETI IVFHSLLTGS YAQKYGKDPP
410 420 430 440 450
MAVTLGLRME EMIFNLADTH LFFNDLEECD QVHIDDVSSD DNGQDLSTYS
460 470 480 490 500
FATDGFHAAA SSANLCLPTG VRGGVDWMRK LAFRYRRVKE LYNTYKNNVG
510 520 530 540 550
GLLGPAKRDA WLQLRAEIEG LTDSWLTNAL KSLSIISTRS NCINVLVTTT
560 570 580 590 600
QLIPALAKVL LYSLGGAFPI ENIYSATKIG KESCFERIMQ RFGRKVVYVV
610 620 630
IGDGVEEEQA AKKHNMPFWR ISSHSDLLAL HQALELEYL
Length:639
Mass (Da):69,505
Last modified:July 19, 2005 - v2
<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:iCC59A8FB1527A0EC
GO
Isoform 2 (identifier: O95677-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-92: Missing.
     93-93: M → V

Show »
Length:616
Mass (Da):67,065
Checksum:i61BC97D2981AC16E
GO
Isoform 3 (identifier: O95677-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     447-452: STYSFA → RCKRRG
     453-639: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:452
Mass (Da):48,735
Checksum:iCE4391D2A264B937
GO
Isoform 4 (identifier: O95677-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

Show »
Length:639
Mass (Da):69,417
Checksum:i514B81F45BD98DA2
GO
Isoform 5 (identifier: O95677-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-123: Missing.
     589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

Show »
Length:585
Mass (Da):63,911
Checksum:iF11418BAC8175189
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z2Y1F2Z2Y1_HUMAN
Eyes absent homolog
EYA4
645Annotation score:

Annotation score:2 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>
E9PLN6E9PLN6_HUMAN
Eyes absent homolog
EYA4
616Annotation score:

Annotation score:2 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>
E7ESD5E7ESD5_HUMAN
Eyes absent homolog
EYA4
570Annotation score:

Annotation score:2 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 conflicti177V → A in BAH13593 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036248152L → R in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_074570171G → R in DFNA10. 1 PublicationCorresponds to variant dbSNP:rs1471362858Ensembl.1
Natural variantiVAR_022932277G → S1 PublicationCorresponds to variant dbSNP:rs9493627EnsemblClinVar.1
Natural variantiVAR_079872288 – 639Missing in DFNA10. 1 PublicationAdd BLAST352
Natural variantiVAR_036249301D → N in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs779172192EnsemblClinVar.1
Natural variantiVAR_074571548T → R in DFNA10. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04216070 – 123Missing in isoform 5. 1 PublicationAdd BLAST54
Alternative sequenceiVSP_00149570 – 92Missing in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_00149693M → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_001497447 – 452STYSFA → RCKRRG in isoform 3. Curated6
Alternative sequenceiVSP_001498453 – 639Missing in isoform 3. CuratedAdd BLAST187
Alternative sequenceiVSP_001499589 – 613MQRFG…QAAKK → VSRFGTNITYVVIGDGRDEE HAANQ in isoform 4 and isoform 5. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Y17114 mRNA Translation: CAA76636.1
Y17847 Genomic DNA Translation: CAA76891.1
AJ007993 mRNA Translation: CAA07816.1
AJ007994 mRNA Translation: CAA07817.1
AK301950 mRNA Translation: BAH13593.1
AL024497 Genomic DNA No translation available.
AL121959 Genomic DNA No translation available.
AL450270 Genomic DNA No translation available.
BC041063 mRNA Translation: AAH41063.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43506.1 [O95677-2]
CCDS5165.1 [O95677-1]
CCDS5166.1 [O95677-4]
CCDS75523.1 [O95677-5]

NCBI Reference Sequences

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RefSeqi
NP_001287941.1, NM_001301012.1 [O95677-5]
NP_001287942.1, NM_001301013.1
NP_004091.3, NM_004100.4 [O95677-1]
NP_742101.2, NM_172103.3 [O95677-2]
NP_742103.1, NM_172105.3 [O95677-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.596680

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000355167; ENSP00000347294; ENSG00000112319 [O95677-4]
ENST00000355286; ENSP00000347434; ENSG00000112319 [O95677-1]
ENST00000367895; ENSP00000356870; ENSG00000112319 [O95677-1]
ENST00000431403; ENSP00000404558; ENSG00000112319 [O95677-2]
ENST00000452339; ENSP00000395916; ENSG00000112319 [O95677-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2070

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2070

UCSC genome browser

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UCSCi
uc003qec.5 human [O95677-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
Y17114 mRNA Translation: CAA76636.1
Y17847 Genomic DNA Translation: CAA76891.1
AJ007993 mRNA Translation: CAA07816.1
AJ007994 mRNA Translation: CAA07817.1
AK301950 mRNA Translation: BAH13593.1
AL024497 Genomic DNA No translation available.
AL121959 Genomic DNA No translation available.
AL450270 Genomic DNA No translation available.
BC041063 mRNA Translation: AAH41063.1
CCDSiCCDS43506.1 [O95677-2]
CCDS5165.1 [O95677-1]
CCDS5166.1 [O95677-4]
CCDS75523.1 [O95677-5]
RefSeqiNP_001287941.1, NM_001301012.1 [O95677-5]
NP_001287942.1, NM_001301013.1
NP_004091.3, NM_004100.4 [O95677-1]
NP_742101.2, NM_172103.3 [O95677-2]
NP_742103.1, NM_172105.3 [O95677-4]
UniGeneiHs.596680

3D structure databases

ProteinModelPortaliO95677
SMRiO95677
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108382, 37 interactors
IntActiO95677, 1 interactor
MINTiO95677
STRINGi9606.ENSP00000347294

PTM databases

DEPODiO95677
iPTMnetiO95677
PhosphoSitePlusiO95677

Polymorphism and mutation databases

BioMutaiEYA4

Proteomic databases

jPOSTiO95677
MaxQBiO95677
PaxDbiO95677
PeptideAtlasiO95677
PRIDEiO95677
ProteomicsDBi50990
50991 [O95677-2]
50992 [O95677-3]
50993 [O95677-4]
50994 [O95677-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2070
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355167; ENSP00000347294; ENSG00000112319 [O95677-4]
ENST00000355286; ENSP00000347434; ENSG00000112319 [O95677-1]
ENST00000367895; ENSP00000356870; ENSG00000112319 [O95677-1]
ENST00000431403; ENSP00000404558; ENSG00000112319 [O95677-2]
ENST00000452339; ENSP00000395916; ENSG00000112319 [O95677-5]
GeneIDi2070
KEGGihsa:2070
UCSCiuc003qec.5 human [O95677-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2070
DisGeNETi2070
EuPathDBiHostDB:ENSG00000112319.17

GeneCards: human genes, protein and diseases

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GeneCardsi
EYA4
GeneReviewsiEYA4
HGNCiHGNC:3522 EYA4
HPAiHPA004805
HPA038771
HPA038772
MalaCardsiEYA4
MIMi601316 phenotype
603550 gene
605362 phenotype
neXtProtiNX_O95677
OpenTargetsiENSG00000112319
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
217622 Sensorineural deafness with dilated cardiomyopathy
PharmGKBiPA27934

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3107 Eukaryota
ENOG410XT12 LUCA
GeneTreeiENSGT00940000158271
HOGENOMiHOG000293149
HOVERGENiHBG002447
InParanoidiO95677
KOiK17622
OrthoDBi1030296at2759
PhylomeDBiO95677
TreeFamiTF319337

Enzyme and pathway databases

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

Miscellaneous databases

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

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ChiTaRSi
EYA4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EYA4

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

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GenomeRNAii
2070

Protein Ontology

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PROi
PR:O95677

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000112319 Expressed in 152 organ(s), highest expression level in biceps brachii
CleanExiHS_EYA4
ExpressionAtlasiO95677 baseline and differential
GenevisibleiO95677 HS

Family and domain databases

CDDicd02601 HAD_Eya, 1 hit
Gene3Di3.40.50.12350, 1 hit
InterProiView protein in InterPro
IPR028478 EYA4
IPR006545 EYA_dom
IPR038102 EYA_dom_sf
IPR028472 EYA_fam
PANTHERiPTHR10190 PTHR10190, 1 hit
PTHR10190:SF17 PTHR10190:SF17, 1 hit
TIGRFAMsiTIGR01658 EYA-cons_domain, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiEYA4_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: O95677
Secondary accession number(s): B7Z7F7
, O95464, O95679, Q8IW39, Q9NTR7
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 19, 2005
Last modified: January 16, 2019
This is version 165 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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