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

Gene ID: 2138, updated on 14-Oct-2017
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; Vega:OTTHUMG00000149894
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
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]
Orthologs
Location:
8q13.3
Exon count:
23
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (71197433..71548130, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (72109668..72459888, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene LACTB2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 19, pseudogene Neighboring gene lactamase beta 2 Neighboring gene XK related 9 Neighboring gene uncharacterized LOC105375894 Neighboring gene trafficking protein particle complex 2 pseudogene 2 Neighboring gene uncharacterized LOC102724772 Neighboring gene uncharacterized LOC105375892 Neighboring gene uncharacterized LOC107986890

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-01-12)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • MGC141875

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of apical/basal cell polarity IEA
Inferred from Electronic Annotation
more info
 
histone dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
mesodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
 
neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
otic vesicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
outer ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
pharyngeal system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
protein sumoylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
semicircular canal morphogenesis IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IEA
Inferred from Electronic Annotation
more info
 
protein-DNA complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
eyes absent homolog 1
NP_000494.2
NP_001275503.1
NP_001275504.1
NP_742055.1
NP_742056.1
NP_742057.1
XP_011515785.1
XP_011515786.2
XP_016868690.1
XP_016868691.1
XP_016868692.1
XP_016868693.1
XP_016868694.1
XP_016868695.1
XP_016868696.1
XP_016868697.1
XP_016868698.1
XP_016868699.1
XP_016868700.1
XP_016868701.1
XP_016868702.1

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_011735.2 RefSeqGene

    Range
    5001..169800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000503.5NP_000494.2  eyes absent homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_000494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (EYA1C) represents the longest transcript and encodes the longest isoform (1). Variants EYA1C and EYA1B encode the same isoform.
    Source sequence(s)
    AJ000098, AK127798, BI497179, BQ223588, DA746489
    Consensus CDS
    CCDS34906.1
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    A0A024R813, B3KXR1
    Related
    ENSP00000342626.3, OTTHUMP00000195053, ENST00000340726.7, OTTHUMT00000313788
    Conserved Domains (2) summary
    cd02601
    Location:321592
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    cl25496
    Location:31279
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  2. NM_001288574.1NP_001275503.1  eyes absent homolog 1 isoform 4

    See identical proteins and their annotated locations for NP_001275503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses alternate in-frame acceptor splice sites at two internal exons compared to variant EYA1C. The resulting isoform (4) is shorter by 6 aa compared to isoform 1.
    Source sequence(s)
    AJ000098, AK127798, AK295897, BC121799, BI497179, BQ223588, DA746489
    Consensus CDS
    CCDS75750.1
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    A6NCB9, B3KXR1
    Related
    ENSP00000303221.7, OTTHUMP00000195106, ENST00000303824.11, OTTHUMT00000313891
    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_001288575.1NP_001275504.1  eyes absent homolog 1 isoform 5

    See identical proteins and their annotated locations for NP_001275504.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses alternate acceptor splice sites at two internal exons, the first of which causes translation initiation from an in-frame downstream start codon compared to variant EYA1C. The resulting isoform (5) has a shorter N-terminus and lacks a 5 aa protein segment compared to isoform 1.
    Source sequence(s)
    AJ000098, AK127798, BC121798, BI497179, BQ223588, DA746489
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    B3KXR1, Q0P517
    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_172058.3NP_742055.1  eyes absent homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_742055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (EYA1B) differs in the 5' UTR compared to variant EYA1C. Variants EYA1B and EYA1C encode the same isoform (1).
    Source sequence(s)
    AJ000097, AJ000098, AK127798, BI497179, BQ223588, DC360066
    Consensus CDS
    CCDS34906.1
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    A0A024R813, B3KXR1
    Related
    ENSP00000373394.4, OTTHUMP00000195054, ENST00000388742.8, OTTHUMT00000313789
    Conserved Domains (2) summary
    cd02601
    Location:321592
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    cl25496
    Location:31279
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  5. NM_172059.3NP_742056.1  eyes absent homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_742056.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (EYA1D) differs in the 5' UTR, uses an alternate in-frame acceptor splice site at an internal exon and lacks an in-frame coding exon compared to variant EYA1C. The resulting shorter isoform (3) lacks two internal protein segments compared to isoform 1.
    Source sequence(s)
    AF467247, AJ000098, AK127798, BI497179, BQ223588
    Consensus CDS
    CCDS34907.1
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    B3KXR1
    Related
    ENSP00000410176.1, OTTHUMP00000195055, ENST00000419131.5, OTTHUMT00000313792
    Conserved Domains (2) summary
    TIGR01658
    Location:316557
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:318532
    Hydrolase; haloacid dehalogenase-like hydrolase
  6. NM_172060.3NP_742057.1  eyes absent homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_742057.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (EYA1A) differs in the 5' UTR and lacks an exon in the 5' region, which results in translation initiation from an alternate in-frame upstream start codon compared to variant EYA1C. The resulting shorter isoform (2) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AJ000097, AJ000098, AK127798, BI497179, BQ223588, DC360066
    Consensus CDS
    CCDS47873.1
    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    B3KXR1
    Related
    ENSP00000373392.3, ENST00000388740.4
    Conserved Domains (2) summary
    TIGR01658
    Location:288559
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:290534
    Hydrolase; haloacid dehalogenase-like hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

    Range
    71197433..71548130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013201.1XP_016868690.1  eyes absent homolog 1 isoform X1

  2. XM_017013210.1XP_016868699.1  eyes absent homolog 1 isoform X10

  3. XM_017013204.1XP_016868693.1  eyes absent homolog 1 isoform X4

  4. XM_017013211.1XP_016868700.1  eyes absent homolog 1 isoform X11

  5. XM_017013203.1XP_016868692.1  eyes absent homolog 1 isoform X2

  6. XM_011517484.2XP_011515786.2  eyes absent homolog 1 isoform X3

  7. XM_017013207.1XP_016868696.1  eyes absent homolog 1 isoform X8

  8. XM_017013206.1XP_016868695.1  eyes absent homolog 1 isoform X6

    UniProtKB/Swiss-Prot
    Q99502
    UniProtKB/TrEMBL
    A0A024R813
    Conserved Domains (2) summary
    cd02601
    Location:321592
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    cl25496
    Location:31279
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  9. XM_017013209.1XP_016868698.1  eyes absent homolog 1 isoform X9

  10. XM_017013202.1XP_016868691.1  eyes absent homolog 1 isoform X1

  11. XM_017013212.1XP_016868701.1  eyes absent homolog 1 isoform X12

    UniProtKB/Swiss-Prot
    Q99502
    Related
    ENSP00000373393.2, OTTHUMP00000195108, ENST00000388741.6, OTTHUMT00000313893
    Conserved Domains (2) summary
    TIGR01658
    Location:288559
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:290534
    Hydrolase; haloacid dehalogenase-like hydrolase
  12. XM_017013208.1XP_016868697.1  eyes absent homolog 1 isoform X7

    UniProtKB/TrEMBL
    F8WB53
    Conserved Domains (2) summary
    TIGR01658
    Location:320591
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:322566
    Hydrolase; haloacid dehalogenase-like hydrolase
  13. XM_017013213.1XP_016868702.1  eyes absent homolog 1 isoform X13

  14. XM_011517483.2XP_011515785.1  eyes absent homolog 1 isoform X7

    UniProtKB/TrEMBL
    F8WB53
    Related
    ENSP00000373395.2, OTTHUMP00000195107, ENST00000388743.6, OTTHUMT00000313892
    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_017013205.1XP_016868694.1  eyes absent homolog 1 isoform X5

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    72164260..72329031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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