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EYA3 EYA transcriptional coactivator and phosphatase 3 [ Homo sapiens (human) ]

Gene ID: 2140, updated on 26-May-2016
Official Symbol
EYA3provided by HGNC
Official Full Name
EYA transcriptional coactivator and phosphatase 3provided by HGNC
Primary source
HGNC:HGNC:3521
See related
Ensembl:ENSG00000158161 HPRD:09042; MIM:601655; Vega:OTTHUMG00000003916
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
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Orthologs
Location:
1p36
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (27970344..28088675, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28296855..28415173, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sphingomyelin phosphodiesterase acid like 3B Neighboring gene XK related 8 Neighboring gene signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686C132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
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 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
eyes absent homolog 3
Names
eyes absent 3
NP_001269489.1
NP_001269490.1
NP_001269491.1
NP_001981.2

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_001282560.1NP_001269489.1  eyes absent homolog 3 isoform b

    See identical proteins and their annotated locations for NP_001269489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, and contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    BC041667, DC416048
    Consensus CDS
    CCDS60052.1
    UniProtKB/Swiss-Prot
    Q99504
    Related
    ENSP00000362970, OTTHUMP00000004014, ENST00000373863, OTTHUMT00000011186
    Conserved Domains (1) summary
    TIGR01658
    Location:256501
    EYA-cons_domain; eyes absent protein conserved domain
  2. NM_001282561.1NP_001269490.1  eyes absent homolog 3 isoform c

    See identical proteins and their annotated locations for NP_001269490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AK295745, AL512288, CA434977, DC416048
    Consensus CDS
    CCDS60051.1
    UniProtKB/Swiss-Prot
    Q99504
    Related
    ENSP00000442558, ENST00000540618
    Conserved Domains (1) summary
    TIGR01658
    Location:256527
    EYA-cons_domain; eyes absent protein conserved domain
  3. NM_001282562.1NP_001269491.1  eyes absent homolog 3 isoform d

    See identical proteins and their annotated locations for NP_001269491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' region which results in the use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK298129, AL512288, CA434977, DC416048
    Consensus CDS
    CCDS60050.1
    UniProtKB/Swiss-Prot
    Q99504
    Related
    ENSP00000405587, ENST00000436342
    Conserved Domains (1) summary
    TIGR01658
    Location:249520
    EYA-cons_domain; eyes absent protein conserved domain
  4. NM_001990.3NP_001981.2  eyes absent homolog 3 isoform a

    See identical proteins and their annotated locations for NP_001981.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK289805, AL512288, CR748247, DC416048
    Consensus CDS
    CCDS316.1
    UniProtKB/Swiss-Prot
    Q99504
    Related
    ENSP00000362978, OTTHUMP00000004013, ENST00000373871, OTTHUMT00000011184
    Conserved Domains (1) summary
    TIGR01658
    Location:302573
    EYA-cons_domain; eyes absent protein conserved domain

RNA

  1. NR_104214.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional exon in the central region, and lacks two exons in the 3' region but includes a different 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC029500, BQ018346, DC416048
    Related
    ENST00000471498

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    27970344..28088675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710449.2XP_006710512.1  

    See identical proteins and their annotated locations for XP_006710512.1

    Conserved Domains (1) summary
    TIGR01658
    Location:304575
    EYA-cons_domain; eyes absent protein conserved domain
  2. XM_011541004.1XP_011539306.1  

    See identical proteins and their annotated locations for XP_011539306.1

    Conserved Domains (1) summary
    TIGR01658
    Location:258529
    EYA-cons_domain; eyes absent protein conserved domain
  3. XM_011540999.1XP_011539301.1  

    See identical proteins and their annotated locations for XP_011539301.1

    Conserved Domains (1) summary
    TIGR01658
    Location:304549
    EYA-cons_domain; eyes absent protein conserved domain
  4. XM_011541000.1XP_011539302.1  

    See identical proteins and their annotated locations for XP_011539302.1

    Conserved Domains (1) summary
    TIGR01658
    Location:304549
    EYA-cons_domain; eyes absent protein conserved domain
  5. XM_011541002.1XP_011539304.1  

    See identical proteins and their annotated locations for XP_011539304.1

    Conserved Domains (1) summary
    TIGR01658
    Location:302547
    EYA-cons_domain; eyes absent protein conserved domain
  6. XM_011541005.1XP_011539307.1  

    Conserved Domains (1) summary
    TIGR01658
    Location:249494
    EYA-cons_domain; eyes absent protein conserved domain
  7. XM_011541003.1XP_011539305.1  

    Conserved Domains (1) summary
    TIGR01658
    Location:258503
    EYA-cons_domain; eyes absent protein conserved domain
  8. XM_011541001.1XP_011539303.1  

    See identical proteins and their annotated locations for XP_011539303.1

    Conserved Domains (1) summary
    TIGR01658
    Location:302547
    EYA-cons_domain; eyes absent protein conserved domain
  9. XM_011541006.1XP_011539308.1  

    Conserved Domains (1) summary
    TIGR01658
    Location:203448
    EYA-cons_domain; eyes absent protein conserved domain

RNA

  1. XR_946582.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    28412382..28530637 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172098.1: Suppressed sequence

    Description
    NM_172098.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.