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Protein

Eyes absent homolog 1

Gene

EYA1

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

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). 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 (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).By similarity1 Publication

<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 sitei328NucleophileBy 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 bindingi328MagnesiumBy similarity1
Active sitei330Proton donorBy similarity1
Metal bindingi330Magnesium; via carbonyl oxygenBy similarity1
Metal bindingi556MagnesiumBy 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: UniProtKB
  • RNA binding Source: Ensembl

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

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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q99502

<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 1 (EC:3.1.3.161 Publication, EC:3.1.3.481 Publication)
<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:EYA1
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000104313.17

Human Gene Nomenclature Database

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HGNCi
HGNC:3519 EYA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601653 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99502

<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

Branchiootorenal syndrome 1 (BOR1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:113650
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_06494295P → S in BOR1. 1 Publication1
Natural variantiVAR_064943140G → S in BOR1. 1 Publication1
Natural variantiVAR_064944363E → V in BOR1. 1 Publication1
Natural variantiVAR_016865426G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar.1
Natural variantiVAR_016866429D → G in BOR1. 1 Publication1
Natural variantiVAR_016867440R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar.1
Natural variantiVAR_005203487S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar.1
Natural variantiVAR_005204505L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar.1
Natural variantiVAR_064945514L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl.1
Natural variantiVAR_064946527Y → C in BOR1. 1 Publication1
Natural variantiVAR_064947569M → T in BOR1. 1 Publication1
Natural variantiVAR_016869583L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar.1
Otofaciocervical syndrome 1 (OTFCS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:166780
Branchiootic syndrome 1 (BOS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:602588
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044452242S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840Ensembl.1
Anterior segment anomalies with or without cataract (ASA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:602588
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016864363E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar.1
Natural variantiVAR_016868547R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi328D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2138

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

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GeneReviewsi
EYA1

MalaCards human disease database

More...
MalaCardsi
EYA1
MIMi113650 phenotype
166780 phenotype
602588 phenotype

Open Targets

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OpenTargetsi
ENSG00000104313

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

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Orphaneti
107 BOR syndrome
52429 Branchiootic syndrome
2792 Otofaciocervical syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27931

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

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DMDMi
3183005

<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_00002186431 – 592Eyes absent homolog 1Add BLAST592

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

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99502

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

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PaxDbi
Q99502

PeptideAtlas

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PeptideAtlasi
Q99502

PRoteomics IDEntifications database

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PRIDEi
Q99502

ProteomicsDB human proteome resource

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ProteomicsDBi
78303
78304 [Q99502-2]

PTM databases

DEPOD human dephosphorylation database

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DEPODi
Q99502

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99502

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

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PhosphoSitePlusi
Q99502

<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

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.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104313 Expressed in 145 organ(s), highest expression level in kidney

CleanEx database of gene expression profiles

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CleanExi
HS_EYA1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99502 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99502 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA028917

<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

Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108439, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q99502

Database of interacting proteins

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DIPi
DIP-60446N

Protein interaction database and analysis system

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IntActi
Q99502, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000342626

<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
Q99502

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

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SMRi
Q99502

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

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GeneTreei
ENSGT00940000153952

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293149

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002447

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99502

KEGG Orthology (KO)

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KOi
K15616

Identification of Orthologs from Complete Genome Data

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OMAi
YPSHYMT

Database of Orthologous Groups

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OrthoDBi
EOG091G04YD

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99502

TreeFam database of animal gene trees

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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
IPR006545 EYA_dom
IPR038102 EYA_dom_sf
IPR028472 EYA_fam
IPR028471 Eyes_absent_h1

The PANTHER Classification System

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PANTHERi
PTHR10190 PTHR10190, 1 hit
PTHR10190:SF11 PTHR10190:SF11, 1 hit

TIGRFAMs; a protein family database

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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 (3+)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 3 <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 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS
60 70 80 90 100
ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT
110 120 130 140 150
PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG
160 170 180 190 200
GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN
210 220 230 240 250
SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP
260 270 280 290 300
STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD
310 320 330 340 350
GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR
360 370 380 390 400
DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS
410 420 430 440 450
TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN
460 470 480 490 500
NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV
510 520 530 540 550
TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV
560 570 580 590
YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL
Length:592
Mass (Da):64,593
Last modified:July 15, 1998 - 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: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

<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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WB53F8WB53_HUMAN
Eyes absent homolog
EYA1
591Annotation 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>
A6NCB9A6NCB9_HUMAN
Eyes absent homolog
EYA1
586Annotation 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>
E7EQM5E7EQM5_HUMAN
Eyes absent homolog
EYA1
558Annotation 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>
E5RHZ7E5RHZ7_HUMAN
Eyes absent homolog
EYA1
148Annotation 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>
E5RIQ7E5RIQ7_HUMAN
Eyes absent homolog
EYA1
212Annotation 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>
A0A2R8Y6K4A0A2R8Y6K4_HUMAN
Eyes absent homolog
EYA1
621Annotation 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>
A0A2R8YGM9A0A2R8YGM9_HUMAN
Eyes absent homolog
EYA1
585Annotation 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>
A0A2R8YET7A0A2R8YET7_HUMAN
Eyes absent homolog
EYA1
586Annotation 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>
A0A2R8YF73A0A2R8YF73_HUMAN
Eyes absent homolog
EYA1
90Annotation 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>
A0A2R8YFS6A0A2R8YFS6_HUMAN
Eyes absent homolog
EYA1
82Annotation 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 conflicti33N → D in AAL73437 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02443920P → A. Corresponds to variant dbSNP:rs1445404EnsemblClinVar.1
Natural variantiVAR_07003341E → K Found in a patient with congenital cataract. 1 PublicationCorresponds to variant dbSNP:rs561111097Ensembl.1
Natural variantiVAR_06494295P → S in BOR1. 1 Publication1
Natural variantiVAR_064943140G → S in BOR1. 1 Publication1
Natural variantiVAR_044452242S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840Ensembl.1
Natural variantiVAR_016864363E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar.1
Natural variantiVAR_064944363E → V in BOR1. 1 Publication1
Natural variantiVAR_016865426G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar.1
Natural variantiVAR_016866429D → G in BOR1. 1 Publication1
Natural variantiVAR_016867440R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar.1
Natural variantiVAR_005203487S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar.1
Natural variantiVAR_005204505L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar.1
Natural variantiVAR_064945514L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl.1
Natural variantiVAR_064946527Y → C in BOR1. 1 Publication1
Natural variantiVAR_016868547R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar.1
Natural variantiVAR_064947569M → T in BOR1. 1 Publication1
Natural variantiVAR_016869583L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar.1

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_0014861 – 41MEMQD…PNGTE → MLLFPQVA in isoform EYA1B. CuratedAdd BLAST41
Alternative sequenceiVSP_045793140 – 144Missing in isoform EYA1D. 1 Publication5
Alternative sequenceiVSP_045794351 – 380Missing in isoform EYA1D. 1 PublicationAdd BLAST30

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
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34906.1 [Q99502-1]

NCBI Reference Sequences

More...
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
NP_742057.1, NM_172060.3
XP_016868695.1, XM_017013206.1 [Q99502-1]
XP_016868701.1, XM_017013212.1 [Q99502-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.444971
Hs.491997
Hs.612611

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000340726; ENSP00000342626; ENSG00000104313 [Q99502-1]
ENST00000388740; ENSP00000373392; ENSG00000104313 [Q99502-2]
ENST00000388742; ENSP00000373394; ENSG00000104313 [Q99502-1]
ENST00000419131; ENSP00000410176; ENSG00000104313 [Q99502-3]
ENST00000644427; ENSP00000496702; ENSG00000104313 [Q99502-1]
ENST00000645793; ENSP00000496255; ENSG00000104313 [Q99502-1]
ENST00000647540; ENSP00000494438; ENSG00000104313 [Q99502-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2138

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2138

UCSC genome browser

More...
UCSCi
uc003xyr.6 human [Q99502-1]

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
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]
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
NP_742057.1, NM_172060.3
XP_016868695.1, XM_017013206.1 [Q99502-1]
XP_016868701.1, XM_017013212.1 [Q99502-2]
UniGeneiHs.444971
Hs.491997
Hs.612611

3D structure databases

ProteinModelPortaliQ99502
SMRiQ99502
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108439, 20 interactors
CORUMiQ99502
DIPiDIP-60446N
IntActiQ99502, 3 interactors
STRINGi9606.ENSP00000342626

PTM databases

DEPODiQ99502
iPTMnetiQ99502
PhosphoSitePlusiQ99502

Polymorphism and mutation databases

DMDMi3183005

Proteomic databases

MaxQBiQ99502
PaxDbiQ99502
PeptideAtlasiQ99502
PRIDEiQ99502
ProteomicsDBi78303
78304 [Q99502-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340726; ENSP00000342626; ENSG00000104313 [Q99502-1]
ENST00000388740; ENSP00000373392; ENSG00000104313 [Q99502-2]
ENST00000388742; ENSP00000373394; ENSG00000104313 [Q99502-1]
ENST00000419131; ENSP00000410176; ENSG00000104313 [Q99502-3]
ENST00000644427; ENSP00000496702; ENSG00000104313 [Q99502-1]
ENST00000645793; ENSP00000496255; ENSG00000104313 [Q99502-1]
ENST00000647540; ENSP00000494438; ENSG00000104313 [Q99502-1]
GeneIDi2138
KEGGihsa:2138
UCSCiuc003xyr.6 human [Q99502-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2138
DisGeNETi2138
EuPathDBiHostDB:ENSG00000104313.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EYA1
GeneReviewsiEYA1
HGNCiHGNC:3519 EYA1
HPAiHPA028917
MalaCardsiEYA1
MIMi113650 phenotype
166780 phenotype
601653 gene
602588 phenotype
neXtProtiNX_Q99502
OpenTargetsiENSG00000104313
Orphaneti107 BOR syndrome
52429 Branchiootic syndrome
2792 Otofaciocervical syndrome
PharmGKBiPA27931

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3107 Eukaryota
ENOG410XT12 LUCA
GeneTreeiENSGT00940000153952
HOGENOMiHOG000293149
HOVERGENiHBG002447
InParanoidiQ99502
KOiK15616
OMAiYPSHYMT
OrthoDBiEOG091G04YD
PhylomeDBiQ99502
TreeFamiTF319337

Enzyme and pathway databases

ReactomeiR-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
SIGNORiQ99502

Miscellaneous databases

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

More...
ChiTaRSi
EYA1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EYA1

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

More...
GenomeRNAii
2138

Protein Ontology

More...
PROi
PR:Q99502

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104313 Expressed in 145 organ(s), highest expression level in kidney
CleanExiHS_EYA1
ExpressionAtlasiQ99502 baseline and differential
GenevisibleiQ99502 HS

Family and domain databases

CDDicd02601 HAD_Eya, 1 hit
Gene3Di3.40.50.12350, 1 hit
InterProiView protein in InterPro
IPR006545 EYA_dom
IPR038102 EYA_dom_sf
IPR028472 EYA_fam
IPR028471 Eyes_absent_h1
PANTHERiPTHR10190 PTHR10190, 1 hit
PTHR10190:SF11 PTHR10190:SF11, 1 hit
TIGRFAMsiTIGR01658 EYA-cons_domain, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiEYA1_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: Q99502
Secondary accession number(s): A6NHQ0
, G5E9R4, Q0P516, Q8WX80
<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: July 15, 1998
Last sequence update: July 15, 1998
Last modified: December 5, 2018
This is version 166 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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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