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

Gene ID: 2138, updated on 17-Jun-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
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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

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
    UniProtKB/TrEMBL
    E7EQM5
    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

    UniProtKB/TrEMBL
    E7EQM5
  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

    UniProtKB/TrEMBL
    E7EQM5
  4. XM_047421524.1XP_047277480.1  eyes absent homolog 1 isoform X8

    UniProtKB/TrEMBL
    E7EQM5
  5. XM_047421519.1XP_047277475.1  eyes absent homolog 1 isoform X2

    UniProtKB/TrEMBL
    E7EQM5
  6. XM_047421521.1XP_047277477.1  eyes absent homolog 1 isoform X4

    UniProtKB/TrEMBL
    E7EQM5
  7. XM_047421523.1XP_047277479.1  eyes absent homolog 1 isoform X6

    UniProtKB/TrEMBL
    E7EQM5
  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

    UniProtKB/TrEMBL
    E7EQM5
  10. XM_047421525.1XP_047277481.1  eyes absent homolog 1 isoform X9

    UniProtKB/TrEMBL
    E7EQM5
  11. XM_047421527.1XP_047277483.1  eyes absent homolog 1 isoform X10

    UniProtKB/TrEMBL
    E7EQM5
  12. XM_047421520.1XP_047277476.1  eyes absent homolog 1 isoform X3

    UniProtKB/TrEMBL
    E7EQM5
  13. XM_047421529.1XP_047277485.1  eyes absent homolog 1 isoform X12

    UniProtKB/TrEMBL
    E7EQM5
    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

    UniProtKB/TrEMBL
    E7EQM5
  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

    UniProtKB/TrEMBL
    E7EQM5
  2. XM_054360040.1XP_054216015.1  eyes absent homolog 1 isoform X4

    UniProtKB/TrEMBL
    E7EQM5
  3. XM_054360041.1XP_054216016.1  eyes absent homolog 1 isoform X5

    UniProtKB/TrEMBL
    E7EQM5
  4. XM_054360044.1XP_054216019.1  eyes absent homolog 1 isoform X8

    UniProtKB/TrEMBL
    E7EQM5
  5. XM_054360037.1XP_054216012.1  eyes absent homolog 1 isoform X2

    UniProtKB/TrEMBL
    E7EQM5
  6. XM_054360039.1XP_054216014.1  eyes absent homolog 1 isoform X4

    UniProtKB/TrEMBL
    E7EQM5
  7. XM_054360042.1XP_054216017.1  eyes absent homolog 1 isoform X6

    UniProtKB/TrEMBL
    E7EQM5
  8. XM_054360036.1XP_054216011.1  eyes absent homolog 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y6K4, E7EQM5
  9. XM_054360050.1XP_054216025.1  eyes absent homolog 1 isoform X13

    UniProtKB/TrEMBL
    E7EQM5
  10. XM_054360045.1XP_054216020.1  eyes absent homolog 1 isoform X9

    UniProtKB/TrEMBL
    E7EQM5
  11. XM_054360047.1XP_054216022.1  eyes absent homolog 1 isoform X10

    UniProtKB/TrEMBL
    E7EQM5
  12. XM_054360038.1XP_054216013.1  eyes absent homolog 1 isoform X3

    UniProtKB/TrEMBL
    E7EQM5
  13. XM_054360049.1XP_054216024.1  eyes absent homolog 1 isoform X12

    UniProtKB/TrEMBL
    E7EQM5
  14. XM_054360043.1XP_054216018.1  eyes absent homolog 1 isoform X7

    UniProtKB/TrEMBL
    E7EQM5, F8WB53
  15. XM_054360046.1XP_054216021.1  eyes absent homolog 1 isoform X9

    UniProtKB/TrEMBL
    E7EQM5
  16. XM_054360051.1XP_054216026.1  eyes absent homolog 1 isoform X14

    UniProtKB/TrEMBL
    B3KXR1