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Eya1 EYA transcriptional coactivator and phosphatase 1 [ Mus musculus (house mouse) ]

Gene ID: 14048, updated on 8-Feb-2024

Summary

Official Symbol
Eya1provided by MGI
Official Full Name
EYA transcriptional coactivator and phosphatase 1provided by MGI
Primary source
MGI:MGI:109344
See related
Ensembl:ENSMUSG00000025932 AllianceGenome:MGI:109344
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
bor
Summary
Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of transcription, DNA-templated; and protein sumoylation. Acts upstream of or within several processes, including animal organ development; positive regulation of cell population proliferation; and regulation of signal transduction. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 1.6), limb E14.5 (RPKM 1.5) and 21 other tissues See more
Orthologs
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Genomic context

See Eya1 in Genome Data Viewer
Location:
1 A3; 1 4.31 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (14239177..14381259, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (14168953..14311035, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00289 Neighboring gene STARR-seq mESC enhancer starr_00290 Neighboring gene predicted gene, 19122 Neighboring gene STARR-seq mESC enhancer starr_00291 Neighboring gene STARR-seq mESC enhancer starr_00292 Neighboring gene predicted gene, 39596 Neighboring gene STARR-positive B cell enhancer mm9_chr1:14133997-14134297 Neighboring gene STARR-seq mESC enhancer starr_00298 Neighboring gene STARR-seq mESC enhancer starr_00300 Neighboring gene STARR-seq mESC enhancer starr_00301 Neighboring gene STARR-seq mESC enhancer starr_00302 Neighboring gene STARR-seq mESC enhancer starr_00303 Neighboring gene STARR-seq mESC enhancer starr_00305 Neighboring gene STARR-seq mESC enhancer starr_00306 Neighboring gene STARR-seq mESC enhancer starr_00307 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_00308 Neighboring gene STARR-seq mESC enhancer starr_00309 Neighboring gene STARR-seq mESC enhancer starr_00311 Neighboring gene predicted gene 9947 Neighboring gene musculin

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone H2AXY142 phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables myosin phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within anatomical structure development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within aorta morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cochlea morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within columnar/cuboidal epithelial cell differentiation IGI
Inferred from Genetic Interaction
more info
 
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within embryonic skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of mitotic spindle orientation IGI
Inferred from Genetic Interaction
more info
 
acts_upstream_of_or_within establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
 
acts_upstream_of_or_within establishment or maintenance of apical/basal cell polarity IMP
Inferred from Mutant Phenotype
more info
 
acts_upstream_of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inner ear morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lung epithelial cell differentiation IGI
Inferred from Genetic Interaction
more info
 
involved_in mesodermal cell fate specification IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within metanephros development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within middle ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within otic vesicle development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within otic vesicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within outer ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pattern specification process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pattern specification process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of DNA repair ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
acts_upstream_of_or_within positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
 
involved_in protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within semicircular canal morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within striated muscle tissue development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within ureteric bud development IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
eyes absent homolog 1
Names
eyes absent 1 homolog
NP_001239121.1
NP_001297388.1
NP_001389588.1
NP_001389589.1
NP_001389590.1
NP_001389591.1
NP_034294.2
XP_006495509.1
XP_006495515.1
XP_011236648.1
XP_017170837.1
XP_017170870.1
XP_017170903.1
XP_030103330.1
XP_036015537.1
XP_036015555.1
XP_036015568.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001252192.2NP_001239121.1  eyes absent homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_001239121.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment and uses an alternate splice site in the 5' coding region and uses a different start codon compared to variant 4. The resulting isoform (2) contains a shorter and distinct N-terminus, compared to isoform 4.
    Source sequence(s)
    AC119875, AC156988
    Consensus CDS
    CCDS56621.1
    UniProtKB/TrEMBL
    F7B3B8, Q6NXW1, Q8C9D0
    Related
    ENSMUSP00000079493.9, ENSMUST00000080664.14
    Conserved Domains (2) summary
    TIGR01658
    Location:287558
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:289533
    Hydrolase; haloacid dehalogenase-like hydrolase
  2. NM_001310459.2NP_001297388.1  eyes absent homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001297388.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' CDS, compared to variant 4. It encodes isoform 3, which is shorter than isoform 4 by an amino acid residue.
    Source sequence(s)
    AC119875, AC156988
    Consensus CDS
    CCDS78545.1
    UniProtKB/Swiss-Prot
    G5E864, O08818, P97767
    UniProtKB/TrEMBL
    Q6PAJ8
    Related
    ENSMUSP00000027066.7, ENSMUST00000027066.13
    Conserved Domains (1) summary
    cd02601
    Location:320591
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  3. NM_001402659.1NP_001389588.1  eyes absent homolog 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC119875, AC156988
    UniProtKB/TrEMBL
    Q6PAJ8
  4. NM_001402660.1NP_001389589.1  eyes absent homolog 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC119875, AC156988
    UniProtKB/TrEMBL
    Q6PAJ8
  5. NM_001402661.1NP_001389590.1  eyes absent homolog 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC119875, AC156988
    UniProtKB/TrEMBL
    Q6PAJ8
  6. NM_001402662.1NP_001389591.1  eyes absent homolog 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC119875, AC156988
  7. NM_010164.3NP_034294.2  eyes absent homolog 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses alternate in-frame splice junctions compared to variant 4. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 4.
    Source sequence(s)
    AC119875, AC156988
    Consensus CDS
    CCDS78546.1
    UniProtKB/TrEMBL
    F6YST4, Q6PAJ8
    Related
    ENSMUSP00000126383.4, ENSMUST00000168081.9
    Conserved Domains (3) summary
    TIGR01658
    Location:316587
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:318562
    Hydrolase; haloacid dehalogenase-like hydrolase
    pfam03153
    Location:74250
    TFIIA; Transcription factor IIA, alpha/beta subunit

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    14239177..14381259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006495452.4XP_006495515.1  eyes absent homolog 1 isoform X5

    See identical proteins and their annotated locations for XP_006495515.1

    UniProtKB/TrEMBL
    Q6NXW1
    Conserved Domains (1) summary
    cd02601
    Location:288533
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  2. XM_017315414.2XP_017170903.1  eyes absent homolog 1 isoform X8

    UniProtKB/TrEMBL
    Q6PAJ8
    Conserved Domains (1) summary
    cd02601
    Location:204475
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  3. XM_011238346.3XP_011236648.1  eyes absent homolog 1 isoform X5

    See identical proteins and their annotated locations for XP_011236648.1

    UniProtKB/TrEMBL
    Q6NXW1
    Conserved Domains (1) summary
    cd02601
    Location:288533
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  4. XM_017315381.2XP_017170870.1  eyes absent homolog 1 isoform X5

    UniProtKB/TrEMBL
    Q6NXW1
    Conserved Domains (1) summary
    cd02601
    Location:288533
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  5. XM_006495446.5XP_006495509.1  eyes absent homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_006495509.1

    UniProtKB/TrEMBL
    Q6PAJ8
    Conserved Domains (1) summary
    cd02601
    Location:321566
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  6. XM_030247470.2XP_030103330.1  eyes absent homolog 1 isoform X1

    UniProtKB/TrEMBL
    Q6PAJ8
    Conserved Domains (1) summary
    cd02601
    Location:321566
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  7. XM_017315348.3XP_017170837.1  eyes absent homolog 1 isoform X3

    UniProtKB/Swiss-Prot
    G5E864, O08818, P97767
    UniProtKB/TrEMBL
    Q6PAJ8
    Related
    ENSMUSP00000141112.2, ENSMUST00000190337.7
    Conserved Domains (1) summary
    cd02601
    Location:320591
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  8. XM_036159662.1XP_036015555.1  eyes absent homolog 1 isoform X7

    Conserved Domains (1) summary
    cd02601
    Location:199444
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  9. XM_036159644.1XP_036015537.1  eyes absent homolog 1 isoform X6

    UniProtKB/TrEMBL
    Q6PAJ8
    Conserved Domains (1) summary
    cl21460
    Location:321493
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  10. XM_036159675.1XP_036015568.1  eyes absent homolog 1 isoform X10

RNA

  1. XR_001780756.2 RNA Sequence