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Eya1 Gene Detail
Summary
  • Symbol
    Eya1
  • Name
    EYA transcriptional coactivator and phosphatase 1
  • Synonyms
    bor
  • Feature Type
    protein coding gene
  • IDs
    MGI:109344
    NCBI Gene: 14048
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:14239178-14380459 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 4.31 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3936 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109344
 protein coding gene Chr1:14239177-14381259 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015845
 protein coding gene Chr1:11559079-11717321 (-)
A/J MGP_AJ_G0015827
 protein coding gene Chr1:11479977-11623806 (-)
AKR/J MGP_AKRJ_G0015786
 protein coding gene Chr1:11459897-11601651 (-)
BALB/cJ MGP_BALBcJ_G0015783
 protein coding gene Chr1:11187366-11328263 (-)
C3H/HeJ MGP_C3HHeJ_G0015617
 protein coding gene Chr1:11433992-11584143 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016237
 protein coding gene Chr1:12081900-12236783 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013958
 protein coding gene Chr1:10079426-10221687 (-)
CAST/EiJ MGP_CASTEiJ_G0015197
 protein coding gene Chr1:11574859-11724853 (-)
CBA/J MGP_CBAJ_G0015590
 protein coding gene Chr1:12367238-12523137 (-)
DBA/2J MGP_DBA2J_G0015689
 protein coding gene Chr1:11088499-11245240 (-)
FVB/NJ MGP_FVBNJ_G0015694
 protein coding gene Chr1:10909769-11051994 (-)
LP/J MGP_LPJ_G0015761
 protein coding gene Chr1:11764814-11914523 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015713
 protein coding gene Chr1:13079214-13229314 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016284
 protein coding gene Chr1:11365994-11510249 (-)
PWK/PhJ MGP_PWKPhJ_G0014981
 protein coding gene Chr1:10917596-11065088 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014762
 protein coding gene Chr1:11574805-11722225 (-)
WSB/EiJ MGP_WSBEiJ_G0015261
 protein coding gene Chr1:11349384-11501258 (-)



Homology
more
  • Human Ortholog
    EYA1, EYA transcriptional coactivator and phosphatase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EYA1, EYA transcriptional coactivator and phosphatase 1
  • Synonyms
    BOP, BOR, BOS1, OFC1, OTFCS
  • Links
    NCBI Gene ID: 2138
    neXtProt AC: NX_Q99502
    UniProt: Q99502

  • Chr Location
    8q13.3; chr8:71197433-71592025 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Eya1 mouse models; 2 with human EYA1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    114 phenotypes from 5 alleles in 12 genetic backgrounds
    44 phenotypes from multigenic genotypes
    5 images
    50 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    94
  • GO References
    27
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1351
  • Tissues
    350
  • cDNA Data
    37
  • Literature Summary
    130
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025932 Ensembl Gene Model | MGI Sequence Detail 141282 C57BL/6J ±  kb
    transcript ENSMUST00000190337 Ensembl | MGI Sequence Detail 2199 Not Applicable  
    polypeptide ENSMUSP00000141112 Ensembl | MGI Sequence Detail 591 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 78
      Genomic 3
      cDNA 38
      Primer pair 16
      Other 21

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-38389, MGI:1891212
    References
    more
    • Summaries
      All 190
      Developmental Gene Expression 130
      Diseases 2
      Gene Ontology 27
      Phenotypes 50
    • Earliest
      J:38379 Xu PX, et al., Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development. 1997 Jan;124(1):219-31
    • Latest
      J:354180 Xu M, et al., ISL1 and POU4F1 Directly Interact to Regulate the Differentiation and Survival of Inner Ear Sensory Neurons. J Neurosci. 2024 Feb 21;44(8)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory