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Aliases for EYA1 Gene

Aliases for EYA1 Gene

  • EYA Transcriptional Coactivator And Phosphatase 1 2 3
  • EC 3.1.3.48 4 63
  • BOS1 3 6
  • OFC1 3 6
  • BOR 3 6
  • Eyes Absent (Drosophila) Homolog 1 2
  • Eyes Absent Homolog 1 (Drosophila) 2
  • Eyes Absent Homolog 1 3
  • EC 3.1.3.16 4
  • BOP 3

External Ids for EYA1 Gene

Previous HGNC Symbols for EYA1 Gene

  • BOR

Previous GeneCards Identifiers for EYA1 Gene

  • GC08M072050
  • GC08M071832
  • GC08M072159
  • GC08M072272
  • GC08M067603

Summaries for EYA1 Gene

Entrez Gene Summary for EYA1 Gene

  • This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

GeneCards Summary for EYA1 Gene

EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include branchiootic syndrome 1 and otofaciocervical syndrome. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA3.

UniProtKB/Swiss-Prot for EYA1 Gene

  • Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2.

Gene Wiki entry for EYA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA1 Gene

Genomics for EYA1 Gene

Regulatory Elements for EYA1 Gene

Genomic Location for EYA1 Gene

Start:
71,197,433 bp from pter
End:
71,547,649 bp from pter
Size:
350,217 bases
Orientation:
Minus strand

Genomic View for EYA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EYA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA1 Gene

Proteins for EYA1 Gene

  • Protein details for EYA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99502-EYA1_HUMAN
    Recommended name:
    Eyes absent homolog 1
    Protein Accession:
    Q99502
    Secondary Accessions:
    • A6NHQ0
    • G5E9R4
    • Q0P516
    • Q8WX80

    Protein attributes for EYA1 Gene

    Size:
    592 amino acids
    Molecular mass:
    64593 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.

    Alternative splice isoforms for EYA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYA1 Gene

Proteomics data for EYA1 Gene at MOPED

Post-translational modifications for EYA1 Gene

Domains for EYA1 Gene

Gene Families for EYA1 Gene

HGNC:
  • PTPE :Protein tyrosine phosphatases / Asp-based PTPs

Protein Domains for EYA1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q99502

UniProtKB/Swiss-Prot:

EYA1_HUMAN :
  • Q99502
Family:
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
genes like me logo Genes that share domains with EYA1: view

Function for EYA1 Gene

Molecular function for EYA1 Gene

GENATLAS Biochemistry: Drosophila eyes absent gene (eya),homolog 1 with two transcripts,(EYA1A),highly expressed in fetal kidney,adult heart and skeletal muscle (4.4 kb isoform) and two more alternatively spliced isoforms differing from EYA1A by their N termini
UniProtKB/Swiss-Prot CatalyticActivity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot Function: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2.

Enzyme Numbers (IUBMB) for EYA1 Gene

Gene Ontology (GO) - Molecular Function for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004725 protein tyrosine phosphatase activity IDA 19234442
GO:0005515 protein binding IPI 15141091
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EYA1: view
genes like me logo Genes that share phenotypes with EYA1: view

Animal Models for EYA1 Gene

MGI Knock Outs for EYA1:

miRNA for EYA1 Gene

miRTarBase miRNAs that target EYA1

No data available for Transcription Factor Targeting and HOMER Transcription for EYA1 Gene

Localization for EYA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYA1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EYA1 Gene COMPARTMENTS Subcellular localization image for EYA1 gene
Compartment Confidence
nucleus 5
cytosol 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19234442
GO:0005737 cytoplasm IDA 19497856
genes like me logo Genes that share ontologies with EYA1: view

Pathways for EYA1 Gene

genes like me logo Genes that share pathways with EYA1: view

Pathways by source for EYA1 Gene

1 KEGG pathway for EYA1 Gene

Gene Ontology (GO) - Biological Process for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0001656 metanephros development IEA --
GO:0001657 ureteric bud development --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0003151 outflow tract morphogenesis IEA --
genes like me logo Genes that share ontologies with EYA1: view

Compounds for EYA1 Gene

(3) HMDB Compounds for EYA1 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with EYA1: view

Transcripts for EYA1 Gene

Unigene Clusters for EYA1 Gene

Eyes absent homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EYA1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: - - -
SP3:
SP4: - -
SP5: - -

Relevant External Links for EYA1 Gene

GeneLoc Exon Structure for
EYA1
ECgene alternative splicing isoforms for
EYA1

Expression for EYA1 Gene

mRNA expression in normal human tissues for EYA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EYA1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (8.9), Brain - Caudate (basal ganglia) (7.4), Brain - Nucleus accumbens (basal ganglia) (6.5), and Pituitary (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EYA1 Gene

SOURCE GeneReport for Unigene cluster for EYA1 Gene Hs.491997

mRNA Expression by UniProt/SwissProt for EYA1 Gene

Q99502-EYA1_HUMAN
Tissue specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney
genes like me logo Genes that share expressions with EYA1: view

Orthologs for EYA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EYA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EYA1 35
  • 99.61 (n)
  • 99.49 (a)
EYA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EYA1 35
  • 93.89 (n)
  • 98.13 (a)
EYA1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EYA1 35
  • 94.61 (n)
  • 98.47 (a)
EYA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eya1 35
  • 90.52 (n)
  • 96.42 (a)
Eya1 16
Eya1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EYA1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya1 35
  • 85.71 (n)
  • 89.91 (a)
chicken
(Gallus gallus)
Aves EYA1 35
  • 86.49 (n)
  • 96.45 (a)
EYA1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYA1 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.779 35
tropical clawed frog
(Silurana tropicalis)
Amphibia eya1 35
  • 81.91 (n)
  • 93.62 (a)
zebrafish
(Danio rerio)
Actinopterygii eya1 35
  • 79.75 (n)
  • 88.91 (a)
eya1 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eya 36
  • 34 (a)
OneToMany
eya 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 35
  • 43.38 (n)
  • 32.68 (a)
eya-1 36
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EYA 35
  • 45.28 (n)
  • 36.25 (a)
rice
(Oryza sativa)
Liliopsida Os06g0110100 35
  • 49.09 (n)
  • 40.93 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 36
  • 66 (a)
OneToMany
Species with no ortholog for EYA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EYA1 Gene

ENSEMBL:
Gene Tree for EYA1 (if available)
TreeFam:
Gene Tree for EYA1 (if available)

Paralogs for EYA1 Gene

Paralogs for EYA1 Gene

Selected SIMAP similar genes for EYA1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with EYA1: view

Variants for EYA1 Gene

Sequence variations from dbSNP and Humsavar for EYA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs684919 -- 71,208,346(-) ttcaa(A/G)aaatt intron-variant
rs721550 -- 71,263,585(+) GTCTA(G/T)TCACA intron-variant
rs721551 -- 71,263,670(+) GCAGA(G/T)GCAGG intron-variant
rs724066 -- 71,530,862(+) ACACA(A/G)GAGGT intron-variant
rs724067 -- 71,530,907(+) AATTA(A/G)TCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EYA1 Gene

Variant ID Type Subtype PubMed ID
esv2737146 CNV Deletion 23290073
nsv890998 CNV Loss 21882294
esv271923 CNV Insertion 20981092
esv274288 CNV Insertion 20981092
esv1250988 CNV Insertion 17803354
esv1006917 CNV Deletion 20482838
nsv521495 CNV Loss 19592680
nsv890999 CNV Gain 21882294
nsv8360 CNV Loss 18304495
dgv185e180 CNV Loss 20482838
dgv1188n67 CNV Loss 20364138
esv2737147 CNV Deletion 23290073
esv28990 CNV Loss 19812545
nsv471758 CNV Loss 16327809
dgv1292e199 CNV Deletion 23128226
esv995470 CNV Deletion 20482838
nsv515101 CNV Loss 21397061
nsv819926 CNV Loss 19587683
esv32722 CNV Loss 17666407
nsv442522 CNV CNV 18776908
esv2421699 CNV Deletion 20811451
nsv465712 CNV Loss 19166990
nsv818638 CNV Loss 17921354
nsv515719 CNV Gain+Loss 19592680
nsv818639 CNV Loss 17921354
nsv465713 CNV Loss 19166990
dgv7806n71 CNV Gain 21882294
nsv891001 CNV Gain 21882294

Relevant External Links for EYA1 Gene

HapMap Linkage Disequilibrium report
EYA1
Human Gene Mutation Database (HGMD)
EYA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYA1 Gene

Disorders for EYA1 Gene

(3) OMIM Diseases for EYA1 Gene (601653)

UniProtKB/Swiss-Prot

EYA1_HUMAN
  • Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269 PubMed:10464653, ECO:0000269 PubMed:10655545, ECO:0000269 PubMed:10991693, ECO:0000269 PubMed:11558900, ECO:0000269 PubMed:21280147, ECO:0000269 PubMed:9361030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Otofaciocervical syndrome 1 (OFC1) [MIM:166780]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. {ECO:0000269 PubMed:11409867, ECO:0000269 PubMed:16441263}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269 PubMed:12701758, ECO:0000269 PubMed:16691597, ECO:0000269 PubMed:9359046}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. {ECO:0000269 PubMed:10655545}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for EYA1 Gene

Disease -log(P) Hits PubMed IDs
bor syndrome 99 69
bo syndrome 95.5 9
renal anomaly 93 4
bof syndrome 91 1
ear malformation 85.4 1

Relevant External Links for EYA1

GeneTests
EYA1
GeneReviews
EYA1
Genetic Association Database (GAD)
EYA1
Human Genome Epidemiology (HuGE) Navigator
EYA1
genes like me logo Genes that share disorders with EYA1: view

Publications for EYA1 Gene

  1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. (PMID: 9020840) Abdelhak S. … Petit C. (Nat. Genet. 1997) 2 3 4 23
  2. BOR and BO syndromes are allelic defects of EYA1. (PMID: 9359046) Vincent C. … Petit C. (Eur. J. Hum. Genet. 1997) 3 4 23
  3. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. (PMID: 9361030) Abdelhak S. … Weil D. (Hum. Mol. Genet. 1997) 3 4 23
  4. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. (PMID: 10655545) Azuma N. … Yamada M. (Hum. Mol. Genet. 2000) 3 4 23
  5. Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. (PMID: 10464653) Kumar S. … Kimberling W.J. (Genet. Test. 1997) 3 4 23

Products for EYA1 Gene

Sources for EYA1 Gene

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