Aliases for ETAA1 Gene

Aliases for ETAA1 Gene

  • ETAA1 Activator Of ATR Kinase 2 3 5
  • Ewing'S Tumor-Associated Antigen 1 2 3 4
  • Ewing'S Tumor-Associated Antigen 16 3 4
  • ETAA1, ATR Kinase Activator 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 Activator Of ATR Kinase) is a Protein Coding gene. Diseases associated with ETAA1 include Restless Legs Syndrome.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ETAA1 Gene

Genomics for ETAA1 Gene

GeneHancer (GH) Regulatory Elements for ETAA1 Gene

Promoters and enhancers for ETAA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J067396 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 517.9 +2.2 2170 5.8 ZBTB40 ZNF217 TCF12 NRF1 POLR2G PHF8 JUND FOS ZFX ZNF10 ETAA1 LINC01829 lnc-C1D-9
GH02J068248 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.2 +854.3 854314 6 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G USF1 GTF2E2 PPP3R1 ENSG00000273064 lnc-PLEK-3 PLEK WDR92 ETAA1 PNO1 LOC102724389 ENSG00000273398
GH02J066430 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14 -958.1 -958127 19.4 EP300 FOXK2 ZNF217 CTCF TCF12 POLR2G BCLAF1 GTF2E2 PHF8 JUND MEIS1 MEIS1-AS3 ETAA1 MEIS1-AS2
GH02J068117 Enhancer 0.6 Ensembl 44.9 +720.6 720591 0.2 ZNF510 ZNF266 ZNF426 ZNF213 ZNF664 ZNF34 ZNF781 AEBP2 ZNF433 ZNF791 ENSG00000284932 ETAA1 CNRIP1 ANTXR1 WDR92 PNO1 PPP3R1 PPIAP64 L13712-017
GH02J068107 Enhancer 0.7 Ensembl 24 +710.9 710891 1.6 ZNF623 ZNF510 ZBTB11 ZNF426 SPI1 ZNF213 ZFP64 ZNF529 ZNF664 ZNF34 ETAA1 WDR92 CNRIP1 PNO1 C1D LOC105374789 lnc-C1D-5 L13712-017 piR-61514-086
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETAA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETAA1

Top Transcription factor binding sites by QIAGEN in the ETAA1 gene promoter:
  • aMEF-2
  • ATF-2
  • C/EBPbeta
  • GATA-1
  • MEF-2A
  • p53
  • Pax-4a
  • SRY
  • TGIF

Genomic Locations for ETAA1 Gene

Genomic Locations for ETAA1 Gene
chr2:67,397,310-67,412,089
(GRCh38/hg38)
Size:
14,780 bases
Orientation:
Plus strand
chr2:67,624,442-67,637,677
(GRCh37/hg19)
Size:
13,236 bases
Orientation:
Plus strand

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:
    Ewing's 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

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:
  • Ewing's tumor-associated antigen 16 (ETAA1_HUMAN)

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 IBA,IDA 27723717
genes like me logo Genes that share ontologies with ETAA1: view
genes like me logo Genes that share phenotypes with ETAA1: view

Animal Model Products

CRISPR 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
cytoskeleton 1

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

PathCards logo

SuperPathways for ETAA1 Gene

No Data Available

Interacting Proteins for ETAA1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000272342 Q9NY74-ETAA1_HUMAN for ETAA1 Gene via STRING IID

;

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 IBA,IDA 27723717
GO:0031297 replication fork processing IDA 27723717
GO:0071902 positive regulation of protein serine/threonine kinase activity IBA,IDA 27723717
GO:2000001 regulation of DNA damage checkpoint IDA,IBA 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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ETAA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 98.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETAA1 31 30
  • 84.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ETAA1 31 30
  • 83.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etaa1 30
  • 73.16 (n)
mouse
(Mus musculus)
Mammalia Etaa1 17 31 30
  • 72.49 (n)
oppossum
(Monodelphis domestica)
Mammalia ETAA1 31
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETAA1 31
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETAA1 31
  • 20 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETAA1 31
  • 26 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etaa1 30
  • 50.85 (n)
zebrafish
(Danio rerio)
Actinopterygii etaa1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ETAA1: view image

Paralogs for ETAA1 Gene

No data available for Paralogs for ETAA1 Gene

Variants for ETAA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETAA1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
708358 Benign: not provided 67,397,496(+) G/T SYNONYMOUS_VARIANT
775724 Benign: not provided 67,405,265(+) A/G SYNONYMOUS_VARIANT
778819 Benign: not provided 67,404,446(+) A/G SYNONYMOUS_VARIANT
VAR_035916 A colorectal cancer sample p.Glu50Asp
rs13036061 - p.Met221Thr

Additional dbSNP identifiers (rs#s) for ETAA1 Gene

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

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

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)

Additional Variant Information for ETAA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ETAA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ETAA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
restless legs syndrome
  • ekbom syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ETAA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETAA1

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

No data available for 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 23 54
  2. DNA Replication Checkpoint: New ATR Activator Identified. (PMID: 28073021) Zou L (Current biology : CB 2017) 2 3 54
  3. Activation of the ATR kinase by the RPA-binding protein ETAA1. (PMID: 27723717) Haahr P … Mailand N (Nature cell biology 2016) 3 4 54
  4. ETAA1 acts at stalled replication forks to maintain genome integrity. (PMID: 27723720) Bass TE … Cortez D (Nature cell biology 2016) 3 4 54
  5. 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 54

Products for ETAA1 Gene

Sources for ETAA1 Gene