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FLASH GENE
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
EC.number 3.1.3.48/ 3.1.3.16
DNA
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
RNA
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
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    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
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly in kidney, ear, branchial arch, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal several protein kinase C phosphorylation sites
  • one cAMP dependent
  • a basic leucine zipper
  • a highly conserved band C terminal region (eyaHR)
  • HOMOLOGY
    interspecies homolog to murine Eya1 (96.23 pc)
    intraspecies homolog to EYA4
    Homologene
    FAMILY
  • phosphatase subgroup of the haloacid dehalogenase-like (HAD) hydrolase superfamily
  • EYA family
  • CATEGORY regulatory , transcription factor , receptor membrane tyrosine phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    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
    PHYSIOLOGICAL PROCESS development
    text
  • ear, kidney, branchial arch, eye
  • morphogenesis
  • PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component SIX1 and SIX2
    INTERACTION
    DNA
    RNA
    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
    REGULATION
    activated by PI3K/Akt signal pathway activates EYA1
    Other regulated throughout the cell cycle via ubiquitin-mediated proteolysis
    ASSOCIATED DISORDERS
    corresponding disease(s) BOR1 , ASMD4 , OTFC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Eya1(-/-) lungs are severely hypoplastic with reduced epithelial branching and increased mesenchymal cellularity