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Aliases for ETAA1 Gene

Aliases for ETAA1 Gene

  • ETAA1, ATR Kinase Activator 2 3 5
  • Ewings Tumor-Associated Antigen 16 3 4
  • Ewings Tumor-Associated Antigen 1 2 3
  • ETAA16 3 4
  • Ewing Tumor Associated Antigen 1 3

External Ids for ETAA1 Gene

Previous GeneCards Identifiers for ETAA1 Gene

  • GC02P067477
  • GC02P067624
  • GC02P067362

Summaries for ETAA1 Gene

GeneCards Summary for ETAA1 Gene

ETAA1 (ETAA1, ATR Kinase Activator) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ETAA1 Gene

  • Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Probably only regulates a subset of ATR targets (PubMed:27723720, PubMed:27723717).

Additional gene information for ETAA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETAA1 Gene

Genomics for ETAA1 Gene

Regulatory Elements for ETAA1 Gene

Enhancers for ETAA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H066430 2 FANTOM5 Ensembl ENCODE dbSUPER 37.2 -957.6 -957592 18.4 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ETAA1 MEIS1-AS3 MEIS1-AS2
GH02H067396 1.8 FANTOM5 Ensembl ENCODE 18 +2.2 2172 5.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS DEK SP3 ETAA1 GC02M067411
GH02H067462 1.9 ENCODE 7.2 +66.5 66549 2.5 PKNOX1 ARNT INSM2 KLF17 FEZF1 RAD21 BRCA1 ZNF366 SCRT2 RCOR1 ETAA1 PIR56294 GC02M067411
GH02H067288 1.2 FANTOM5 Ensembl ENCODE 11.2 -107.2 -107246 3.9 PKNOX1 JUN MAX USF2 CEBPB EP300 BRCA1 JUND BCL6B STAT3 ETAA1 GC02P067286 ENSG00000236605
GH02H067388 0.8 Ensembl ENCODE 16 -7.7 -7711 2 JUND JUN POU5F1 RCOR1 ETAA1 GC02P067389 GC02P067391
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ETAA1 on UCSC Golden Path with GeneCards custom track

Promoters for ETAA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000118258 291 1600 ATF1 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 ELK1 ZNF207 RUNX3

Genomic Locations for ETAA1 Gene

Genomic Locations for ETAA1 Gene
chr2:67,397,310-67,410,545
(GRCh38/hg38)
Size:
13,236 bases
Orientation:
Plus strand
chr2:67,624,442-67,637,677
(GRCh37/hg19)

Genomic View for ETAA1 Gene

Genes around ETAA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETAA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETAA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETAA1 Gene

Proteins for ETAA1 Gene

  • Protein details for ETAA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY74-ETAA1_HUMAN
    Recommended name:
    Ewings tumor-associated antigen 1
    Protein Accession:
    Q9NY74
    Secondary Accessions:
    • Q05BT7
    • Q53SC4

    Protein attributes for ETAA1 Gene

    Size:
    926 amino acids
    Molecular mass:
    103440 Da
    Quaternary structure:
    • Interacts (via RBM1 motif) with RPA1 (PubMed:27601467, PubMed:27723720, PubMed:27723717). Interacts (via RBM2 motif) with RPA2 (PubMed:27601467, PubMed:27723720, PubMed:27723717). Interacts (via the ATR-activation domain motif) with ATR (PubMed:27723720, PubMed:27723717).
    SequenceCaution:
    • Sequence=AAH33075.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=AAX93100.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ETAA1 Gene

Post-translational modifications for ETAA1 Gene

Other Protein References for ETAA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ETAA1 Gene

Domains & Families for ETAA1 Gene

Gene Families for ETAA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ETAA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ETAA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY74

UniProtKB/Swiss-Prot:

ETAA1_HUMAN :
  • The RBM1 (RPA1-binding, also named RPA70N-binding) motif mediates interaction with RPA1 (PubMed:27601467, PubMed:27723720, PubMed:27723717). The RBM2 (RPA2-binding, also named RPA32C-binding) motif mediates interaction with RPA2 (PubMed:27601467, PubMed:27723720, PubMed:27723717).
Domain:
  • The RBM1 (RPA1-binding, also named RPA70N-binding) motif mediates interaction with RPA1 (PubMed:27601467, PubMed:27723720, PubMed:27723717). The RBM2 (RPA2-binding, also named RPA32C-binding) motif mediates interaction with RPA2 (PubMed:27601467, PubMed:27723720, PubMed:27723717).
  • The ATR-activation domain (AAD) motif is required to bind and activate ATR (PubMed:27723720, PubMed:27723717).
genes like me logo Genes that share domains with ETAA1: view

Function for ETAA1 Gene

Molecular function for ETAA1 Gene

UniProtKB/Swiss-Prot Function:
Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Probably only regulates a subset of ATR targets (PubMed:27723720, PubMed:27723717).

Phenotypes From GWAS Catalog for ETAA1 Gene

Gene Ontology (GO) - Molecular Function for ETAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27723717
GO:0043539 protein serine/threonine kinase activator activity IDA 27723717
genes like me logo Genes that share ontologies with ETAA1: view

Phenotypes for ETAA1 Gene

genes like me logo Genes that share phenotypes with ETAA1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ETAA1 Gene

Localization for ETAA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETAA1 Gene

Nucleus. Note=Localizes at sites of DNA damage following replication stress (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with RPA1 and RPA2 subunits of the RPA complex (PubMed:27601467, PubMed:27723720). {ECO:0000269 PubMed:27601467, ECO:0000269 PubMed:27723717, ECO:0000269 PubMed:27723720}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETAA1 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0043596 nuclear replication fork IDA 27723717
genes like me logo Genes that share ontologies with ETAA1: view

Pathways & Interactions for ETAA1 Gene

SuperPathways for ETAA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ETAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 27723717
GO:0031297 replication fork processing IDA 27723717
GO:0071902 positive regulation of protein serine/threonine kinase activity IDA 27723717
GO:2000001 regulation of DNA damage checkpoint IDA 27723717
genes like me logo Genes that share ontologies with ETAA1: view

No data available for Pathways by source and SIGNOR curated interactions for ETAA1 Gene

Drugs & Compounds for ETAA1 Gene

No Compound Related Data Available

Transcripts for ETAA1 Gene

mRNA/cDNA for ETAA1 Gene

Unigene Clusters for ETAA1 Gene

Ewing tumor-associated antigen 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETAA1 Gene

No ASD Table

Relevant External Links for ETAA1 Gene

GeneLoc Exon Structure for
ETAA1
ECgene alternative splicing isoforms for
ETAA1

Expression for ETAA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETAA1 Gene

Protein differential expression in normal tissues from HIPED for ETAA1 Gene

This gene is overexpressed in Amniocyte (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETAA1 Gene



Protein tissue co-expression partners for ETAA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ETAA1 Gene:

ETAA1

SOURCE GeneReport for Unigene cluster for ETAA1 Gene:

Hs.353022

mRNA Expression by UniProt/SwissProt for ETAA1 Gene:

Q9NY74-ETAA1_HUMAN
Tissue specificity: Expressed at high levels in the brain, liver kidney and Ewing tumor cell lines.
genes like me logo Genes that share expression patterns with ETAA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETAA1 Gene

Orthologs for ETAA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ETAA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETAA1 33 34
  • 98.89 (n)
dog
(Canis familiaris)
Mammalia ETAA1 33 34
  • 84.58 (n)
cow
(Bos Taurus)
Mammalia ETAA1 33 34
  • 83.5 (n)
rat
(Rattus norvegicus)
Mammalia Etaa1 33
  • 73.16 (n)
mouse
(Mus musculus)
Mammalia Etaa1 33 16 34
  • 72.49 (n)
oppossum
(Monodelphis domestica)
Mammalia ETAA1 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETAA1 34
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETAA1 34
  • 20 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETAA1 34
  • 26 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etaa1 33
  • 50.85 (n)
zebrafish
(Danio rerio)
Actinopterygii etaa1 34
  • 23 (a)
OneToOne
Species where no ortholog for ETAA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ETAA1 Gene

ENSEMBL:
Gene Tree for ETAA1 (if available)
TreeFam:
Gene Tree for ETAA1 (if available)

Paralogs for ETAA1 Gene

No data available for Paralogs for ETAA1 Gene

Variants for ETAA1 Gene

Sequence variations from dbSNP and Humsavar for ETAA1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035916 A colorectal cancer sample
rs1000051421 -- 67,395,700(+) TTTAT(A/G)CCTTC upstream-variant-2KB
rs1000233529 -- 67,401,938(+) AATAA(A/G)TGTAT intron-variant
rs1000813346 -- 67,407,004(+) TTTCC(A/G)CATGC intron-variant
rs1000835627 -- 67,400,380(+) TTTGG(A/G)AGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ETAA1 Gene

Variant ID Type Subtype PubMed ID
nsv834249 CNV loss 17160897
esv3892581 CNV loss 25118596

Variation tolerance for ETAA1 Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.10; 75.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETAA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETAA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETAA1 Gene

Disorders for ETAA1 Gene

Relevant External Links for ETAA1

Genetic Association Database (GAD)
ETAA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETAA1

No disorders were found for ETAA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETAA1 Gene

Publications for ETAA1 Gene

  1. Structure and function of ETAA16: a novel cell surface antigen in Ewing's tumours. (PMID: 16003559) Borowski A … Schneider EM (Cancer immunology, immunotherapy : CII 2006) 2 3 4 22 60
  2. DNA Replication Checkpoint: New ATR Activator Identified. (PMID: 28073021) Zou L (Current biology : CB 2017) 2 3 60
  3. Ewing Tumor-associated Antigen 1 Interacts with Replication Protein A to Promote Restart of Stalled Replication Forks. (PMID: 27601467) Feng S … Xu D (The Journal of biological chemistry 2016) 3 4 60
  4. Activation of the ATR kinase by the RPA-binding protein ETAA1. (PMID: 27723717) Haahr P … Mailand N (Nature cell biology 2016) 3 4 60
  5. ETAA1 acts at stalled replication forks to maintain genome integrity. (PMID: 27723720) Bass TE … Cortez D (Nature cell biology 2016) 3 4 60

Products for ETAA1 Gene

Sources for ETAA1 Gene

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