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    EYA1 EYA transcriptional coactivator and phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 2138, updated on 3-May-2024

    Summary

    Official Symbol
    EYA1provided by HGNC
    Official Full Name
    EYA transcriptional coactivator and phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:3519
    See related
    Ensembl:ENSG00000104313 MIM:601653; AllianceGenome:HGNC:3519
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BOP; BOR; BOS1; OFC1; OTFCS
    Summary
    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]
    Expression
    Biased expression in prostate (RPKM 2.8), brain (RPKM 1.5) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EYA1 in Genome Data Viewer
    Location:
    8q13.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (71197433..71548094, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (71626530..71983583, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (72109668..72460329, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene XK related 9 Neighboring gene uncharacterized LOC124901960 Neighboring gene NANOG hESC enhancer GRCh37_chr8:71971312-71971813 Neighboring gene uncharacterized LOC124901959 Neighboring gene uncharacterized LOC105375894 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:72117517-72118139 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:72130552-72131173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:72131174-72131794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19277 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:72273711-72274232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:72318933-72319512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:72374134-72374681 Neighboring gene trafficking protein particle complex 2 pseudogene 2 Neighboring gene uncharacterized LOC124901961 Neighboring gene uncharacterized LOC102724772 Neighboring gene uncharacterized LOC105375892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:72468917-72469829 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:72584459-72585214 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:72586903-72587474 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:72587475-72588046 Neighboring gene 8q13.2-q13.3 distal HERV-mediated recombination region Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:72591841-72592808 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:72592809-72593775 Neighboring gene Sharpr-MPRA regulatory region 1735 Neighboring gene uncharacterized LOC107986890

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Branchiootic syndrome 1 not available
    Branchiootorenal syndrome 1 Compare labs
    Otofaciocervical syndrome 1
    MedGen: C3714941 OMIM: 166780 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-08-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
    EBI GWAS Catalog
    Genome-wide association of sleep and circadian phenotypes.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC141875

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in middle ear morphogenesis 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
     
    involved_in neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in otic vesicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outer ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of secondary heart field cardioblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in semicircular canal morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    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 
    part_of protein-DNA complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    eyes absent homolog 1
    NP_000494.2
    NP_001275503.1
    NP_001275504.1
    NP_001357262.1
    NP_001357263.1
    NP_001357264.1
    NP_001357265.1
    NP_001398726.1
    NP_742055.1
    NP_742056.2
    NP_742057.1
    XP_011515786.2
    XP_016868691.1
    XP_016868697.1
    XP_016868702.1
    XP_047277475.1
    XP_047277476.1
    XP_047277477.1
    XP_047277478.1
    XP_047277479.1
    XP_047277480.1
    XP_047277481.1
    XP_047277482.1
    XP_047277483.1
    XP_047277484.1
    XP_047277485.1
    XP_047277486.1
    XP_054216011.1
    XP_054216012.1
    XP_054216013.1
    XP_054216014.1
    XP_054216015.1
    XP_054216016.1
    XP_054216017.1
    XP_054216018.1
    XP_054216019.1
    XP_054216020.1
    XP_054216021.1
    XP_054216022.1
    XP_054216023.1
    XP_054216024.1
    XP_054216025.1
    XP_054216026.1

    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.

    Genomic

    1. NG_011735.4 RefSeqGene

      Range
      191025..355661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000503.6NP_000494.2  eyes absent homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_000494.2

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      Consensus CDS
      CCDS34906.1
      UniProtKB/Swiss-Prot
      A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502
      UniProtKB/TrEMBL
      E7EQM5
      Related
      ENSP00000342626.3, ENST00000340726.8
      Conserved Domains (1) summary
      cd02601
      Location:321592
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    2. NM_001288574.2NP_001275503.1  eyes absent homolog 1 isoform 4

      See identical proteins and their annotated locations for NP_001275503.1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      Consensus CDS
      CCDS75750.1
      UniProtKB/TrEMBL
      A6NCB9, E7EQM5
      Related
      ENSP00000303221.7, ENST00000303824.11
      Conserved Domains (2) summary
      TIGR01658
      Location:315586
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:317561
      Hydrolase; haloacid dehalogenase-like hydrolase
    3. NM_001288575.2NP_001275504.1  eyes absent homolog 1 isoform 5

      See identical proteins and their annotated locations for NP_001275504.1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      UniProtKB/TrEMBL
      B3KXR1
      Conserved Domains (2) summary
      TIGR01658
      Location:199470
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:201445
      Hydrolase; haloacid dehalogenase-like hydrolase
    4. NM_001370333.1NP_001357262.1  eyes absent homolog 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858, AC099805
      Consensus CDS
      CCDS94313.1
      UniProtKB/TrEMBL
      A0A2R8Y6K4, E7EQM5
      Related
      ENSP00000495390.1, ENST00000643681.1
      Conserved Domains (1) summary
      cd02601
      Location:350621
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    5. NM_001370334.1NP_001357263.1  eyes absent homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858, AC099805
      Consensus CDS
      CCDS34906.1
      UniProtKB/Swiss-Prot
      A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502
      UniProtKB/TrEMBL
      E7EQM5
      Related
      ENSP00000494438.1, ENST00000647540.1
      Conserved Domains (1) summary
      cd02601
      Location:321592
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    6. NM_001370335.1NP_001357264.1  eyes absent homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858, AC099805
      Consensus CDS
      CCDS34906.1
      UniProtKB/Swiss-Prot
      A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502
      UniProtKB/TrEMBL
      E7EQM5
      Related
      ENSP00000496255.1, ENST00000645793.1
      Conserved Domains (1) summary
      cd02601
      Location:321592
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    7. NM_001370336.1NP_001357265.1  eyes absent homolog 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858, AC099805
      Consensus CDS
      CCDS94312.1
      UniProtKB/TrEMBL
      A0A2R8YGM9, E7EQM5
      Related
      ENSP00000496188.1, ENST00000644712.1
      Conserved Domains (2) summary
      pfam05109
      Location:61302
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd02601
      Location:344585
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    8. NM_001411797.1NP_001398726.1  eyes absent homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      Consensus CDS
      CCDS47873.1
      Related
      ENSP00000373393.2, ENST00000388741.7
    9. NM_172058.4NP_742055.1  eyes absent homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_742055.1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      Consensus CDS
      CCDS34906.1
      UniProtKB/Swiss-Prot
      A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502
      UniProtKB/TrEMBL
      E7EQM5
      Related
      ENSP00000373394.4, ENST00000388742.8
      Conserved Domains (1) summary
      cd02601
      Location:321592
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    10. NM_172059.5NP_742056.2  eyes absent homolog 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858, AC099805
      Consensus CDS
      CCDS34907.2
      UniProtKB/TrEMBL
      A0A2R8YET7, E7EQM5
      Related
      ENSP00000494568.1, ENST00000644229.1
      Conserved Domains (2) summary
      cd02601
      Location:345586
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
      cl26464
      Location:75310
      Atrophin-1; Atrophin-1 family
    11. NM_172060.4NP_742057.1  eyes absent homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_742057.1

      Status: REVIEWED

      Source sequence(s)
      AC016465, AC022858
      UniProtKB/TrEMBL
      E7EQM5
      Related
      ENSP00000373392.3, ENST00000388740.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      71197433..71548094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421528.1XP_047277484.1  eyes absent homolog 1 isoform X11

    2. XM_011517484.4XP_011515786.2  eyes absent homolog 1 isoform X4

      UniProtKB/TrEMBL
      E7EQM5
    3. XM_047421522.1XP_047277478.1  eyes absent homolog 1 isoform X5

    4. XM_047421524.1XP_047277480.1  eyes absent homolog 1 isoform X8

    5. XM_047421519.1XP_047277475.1  eyes absent homolog 1 isoform X2

    6. XM_047421521.1XP_047277477.1  eyes absent homolog 1 isoform X4

    7. XM_047421523.1XP_047277479.1  eyes absent homolog 1 isoform X6

    8. XM_017013202.2XP_016868691.1  eyes absent homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y6K4, E7EQM5
      Conserved Domains (1) summary
      cd02601
      Location:350621
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    9. XM_047421530.1XP_047277486.1  eyes absent homolog 1 isoform X13

    10. XM_047421525.1XP_047277481.1  eyes absent homolog 1 isoform X9

    11. XM_047421527.1XP_047277483.1  eyes absent homolog 1 isoform X10

    12. XM_047421520.1XP_047277476.1  eyes absent homolog 1 isoform X3

    13. XM_047421529.1XP_047277485.1  eyes absent homolog 1 isoform X12

      Related
      ENSP00000410176.1, ENST00000419131.6
    14. XM_017013208.3XP_016868697.1  eyes absent homolog 1 isoform X7

      UniProtKB/TrEMBL
      E7EQM5, F8WB53
      Related
      ENSP00000373395.2, ENST00000388743.6
      Conserved Domains (2) summary
      TIGR01658
      Location:320591
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:322566
      Hydrolase; haloacid dehalogenase-like hydrolase
    15. XM_047421526.1XP_047277482.1  eyes absent homolog 1 isoform X9

    16. XM_017013213.2XP_016868702.1  eyes absent homolog 1 isoform X14

      UniProtKB/TrEMBL
      B3KXR1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      71626530..71983583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360048.1XP_054216023.1  eyes absent homolog 1 isoform X11

    2. XM_054360040.1XP_054216015.1  eyes absent homolog 1 isoform X4

    3. XM_054360041.1XP_054216016.1  eyes absent homolog 1 isoform X5

    4. XM_054360044.1XP_054216019.1  eyes absent homolog 1 isoform X8

    5. XM_054360037.1XP_054216012.1  eyes absent homolog 1 isoform X2

    6. XM_054360039.1XP_054216014.1  eyes absent homolog 1 isoform X4

    7. XM_054360042.1XP_054216017.1  eyes absent homolog 1 isoform X6

    8. XM_054360036.1XP_054216011.1  eyes absent homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y6K4
    9. XM_054360050.1XP_054216025.1  eyes absent homolog 1 isoform X13

    10. XM_054360045.1XP_054216020.1  eyes absent homolog 1 isoform X9

    11. XM_054360047.1XP_054216022.1  eyes absent homolog 1 isoform X10

    12. XM_054360038.1XP_054216013.1  eyes absent homolog 1 isoform X3

    13. XM_054360049.1XP_054216024.1  eyes absent homolog 1 isoform X12

    14. XM_054360043.1XP_054216018.1  eyes absent homolog 1 isoform X7

      UniProtKB/TrEMBL
      F8WB53
    15. XM_054360046.1XP_054216021.1  eyes absent homolog 1 isoform X9

    16. XM_054360051.1XP_054216026.1  eyes absent homolog 1 isoform X14