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Symbol EYA1 contributors: mct/pgu - updated : 12-07-2016
HGNC name eyes absent homolog 1 (Drosophila)
HGNC id 3519
Corresponding disease
ASMD4 ocular anterior segment mesenchymal dysgenesis 4
BOR1 branchio-oto-renal syndrome
OTFC otofaciocervical syndrome
Location 8q13.3      Physical location : 72.109.669 - 72.274.467
Synonym name eyes absent (Drosophila) homolog 1
Synonym symbol(s) BOP, BOR, MGC141875, BOS1, OFC1
TYPE functioning gene
STRUCTURE 350.70 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D8S516 - D8S544 - D8S1841 - D8S533 - D8S553 - D8S1797 - D8S1767 - D8S1795 /D8S543 - EYA1 - D8S1807 /D8S530 - D8S279 - D8S1776 - D8S501 - D8S541 /D8S1286 - D8S528 /D8S1760 - qter
Physical map
FLJ25692 8q13.1 hypothetical protein FLJ25692 LOC392228 8 similar to hypothetical class II basic helix-loop-helix protein LOC286187 8q13.1 similar to RIKEN cDNA 1700011J18 COPS5 8q13.1 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) FLJ22490 8q13.1 hypothetical protein FLJ22490 BIG1 8q13 hypothetical protein FLJ22490 LOC389666 8 LOC389666 LOC392229 8 similar to 60S ribosomal protein L17 (L23) (Amino acid starvation-induced protein) (ASI) CPA6 8q12.3 carboxypeptidase A6 FLJ12987 8q13.1 hypothetical protein FLJ12987 VEST1 8q13 vestibule-1 protein LOC389667 8 similar to tropomyosin 4 SULF1 8q13.1 similar to tropomyosin 4 SLCO5A1 8q13.2 solute carrier family 21 (organic anion transporter), member 15 LOC392230 8 similar to BAG-family molecular chaperone regulator-4 (Silencer of death domains) PRDM14 8p21-p12 PR domain containing 14 LOC346990 8q13.2 similar to H2A histone family, member Z NCOA2 8q13.1 nuclear receptor coactivator 2 LOC392231 8 similar to basic transcription factor 3 TRAM1 8q13.1 translocation associated membrane protein 1 CGI-83 LOC389668 8 similar to hypothetical protein FLJ10307 EYA1 8q13.3 eyes absent homolog 1 (Drosophila) MSC 8q21.1-q21.2 musculin (activated B-cell factor-1) TRPA1 8q13 transient receptor potential cation channel, subfamily A, member 1 LOC392232 8 similar to ankyrin-like protein 1; ankyrin-like with transmembrane domains 1 KCNB2 8q13.2 potassium voltage-gated channel, Shab-related subfamily, member 2 TERF1 8q13 telomeric repeat binding factor (NIMA-interacting) 1 RPESP 8q13.3 RPE-spondin LOC392233 8 similar to Hspcb protein LOC389669 8 LOC389669 RPL7 8q12-q22 ribosomal protein L7 RDH10 8q13.3 retinol dehydrogenase 10 (all-trans) STAU2 8q13-q21.1 staufen, RNA binding protein, homolog 2 (Drosophila) FLJ11011 8q13.3 hypothetical protein FLJ11011 TCEB1 8q13-q21 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) FLJ20533 8q13.3 hypothetical protein FLJ20533 LOC157793 8q13.3 similar to destrin - pig LY96 8q13.3 lymphocyte antigen 96 JPH1 8q21 junctophilin 1 GDAP1 8q13.3-q21 ganglioside-induced differentiation-associated protein 1 LOC286157 8q13.3 similar to mCBP PI15 8q13.3 protease inhibitor 15 LOC83690 8q13.3 CocoaCrisp LOC389670 8 hypothetical gene supported by BC062758 LOC392234 8 similar to Pyruvate kinase, M2 isozyme HNF4G 8q21.3-q22.1 hepatocyte nuclear factor 4, gamma
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 splicing 3860 61.2 559 - 2013 23636126
  • containing exon 2a (longer than 2b & 2c)
  • containing exon 7a (longer than 7b)
  • lacking exons 1 & 3
  • also called EYA1A
  • 16 splicing 3883 60.53 557 - 2013 23636126
  • containing exon 2c (shorter than 2a & 2b)
  • containing exon 7b (shorter than 7a)
  • lacking exons 1 & 12
  • also called EYA1D
  • 18 splicing initiation site 4341 64.59 592 - 2013 23636126
  • a 18 exons variant
  • containing exon 2b
  • containing exon 7a (longer than 7b)
  • also called EYA1C
  • 17 splicing 3988 64.46 592 - 2013 23636126
  • containing exon 2a (longer than 2b & 2c)
  • containing exon 7a (longer than 7b)
  • lacking exon 1
  • also called EYA1B
  • 18 - 4259 - 470 - 2013 23636126
    18 - 4323 - 586 - 2013 23636126
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
     mouth   moderately
     pharynx   lowly
    Hearing/Equilibriumearinnercochlea predominantly
    Lymphoid/Immunethymus   moderately
    Nervousnerve   highly
    Reproductivemale systemtestis  lowly
    Respiratoryrespiratory tractlarynx  highly
     respiratory tracttrachea  highly
    Visualeyeanterior segment  lowly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period fetal, pregnancy
    Text highly in kidney, ear, branchial arch, brain
  • N terminal several protein kinase C phosphorylation sites
  • one cAMP dependent
  • a basic leucine zipper
  • a highly conserved band C terminal region (eyaHR)
    interspecies homolog to murine Eya1 (96.23 pc)
    intraspecies homolog to EYA4
  • phosphatase subgroup of the haloacid dehalogenase-like (HAD) hydrolase superfamily
  • EYA family
  • CATEGORY regulatory , transcription factor , receptor membrane tyrosine phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • participating to normal development of branchial arches, ear, kidney, directly in the modulation of cellular signaling through its phosphatase activity
  • playing a key role in the regulation of genes known to be important for sensory development
  • regulates SHH signaling in embryonic lung, thus ensuring the proper level of proliferation and differentiation along the proximodistal axis of epithelial, mesenchymal and endothelial cells
  • its function is critical for proper coordination of lung epithelial, mesenchymal and vascular development
  • functioning as a crucial regulator of the complex behavior of distal embryonic lung epithelium
  • EYA1 and SIX1 are key transcription factors in initiating the neuronal developmental program, probably by recruiting and interacting with the SWI/SNF chromatin-remodeling complex to specifically mediate NEUROG1 and NEUROD1 transcription
  • regulates tight junction formation in lung distal epithelium
  • is required for cell proliferation and survival during mammalian organogenesis
  • EYA1 enhanced cellular proliferation, inhibited apoptosis, and induced contact-independent growth and CCND1 abundance
  • conserved critical regulator of organ-specific stem cells
  • functional link between EYA1, SIX2, and MYC in driving the expansion and maintenance of the multipotent progenitors during nephrogenesis
  • catalytically active phosphatase EYA1 cooperates with the DNA-binding protein SIX1 to promote gene induction in response to SHH and EYA1/SIX1 together regulate GLI transcriptional activators
  • EYA1 and SIX1 as key components of the SHH transcriptional network in normal development and in oncogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
  • ear, kidney, branchial arch, eye
  • morphogenesis
    signaling sensory transduction/hearing
    a component SIX1 and SIX2
    small molecule metal binding,
  • Mg2+
  • protein
  • SIX1 and DACH (regulating precursor cell proliferation and survival during organogenesis)
  • interacting with Sox2
  • EYA1 phosphatase functions through PRKCZ-NOTCH1 signaling to control cell polarity in the lung epithelium
  • NR2F2 directly regulates the expression of both EYA1 and WT1 in the metanephric mesenchyme
  • anaphase-promoting complex/cyclosome (APC/C)-CDH1 specifically targets EYA1 for degradation during M-to-G(1) transition, failure of which may compromise cell proliferation and survival (
  • EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the CCND1 promoter
  • EYA1 interacts with SIX2 and MYC to control self-renewing cell activity
  • cell & other
    activated by PI3K/Akt signal pathway activates EYA1
    Other regulated throughout the cell cycle via ubiquitin-mediated proteolysis
    corresponding disease(s) BOR1 , ASMD4 , OTFC
    Variant & Polymorphism
    Candidate gene
    Therapy target
    Eya1(-/-) lungs are severely hypoplastic with reduced epithelial branching and increased mesenchymal cellularity