Aliases for ETAA1 Gene
Aliases for ETAA1 Gene
External Ids for ETAA1 Gene
- HGNC: 24648
- Entrez Gene: 54465
- Ensembl: ENSG00000143971
- OMIM: 613196
- UniProtKB: Q9NY74
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
- Monarch Initiative
- Search for ETAA1 at DataMed
- Search for ETAA1 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for ETAA1 Gene
Promoters and enhancers for ETAA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ETAA1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 2p14 by Ensembl
- 2p14 by Entrez Gene
- 2p14 by HGNC
ETAA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ETAA1 Gene
Post-translational modifications for ETAA1 Gene
- Phosphorylated by ATR.
Other Protein References for ETAA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ETAA1
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Protein Products
-
OriGene Purified Proteins for ETAA1
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Assay Products
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
Suggested Antigen Peptide Sequences for ETAA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NY74UniProtKB/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).
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 27723717 |
| GO:0043539 | protein serine/threonine kinase activator activity | IDA | 27723717 |
Phenotypes for ETAA1 Gene
- GenomeRNAi human phenotypes for ETAA1:
Animal Model Products
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-
-
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-
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETAA1
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miRNA Products
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Inhibitory RNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for ETAA1 gene
Clone Products
- Sino Biological Human cDNA Clone for ETAA1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ETAA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ETAA1
-
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-
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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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0043596 | nuclear replication fork | IDA | 27723717 |
Pathways & Interactions for ETAA1 Gene
No Data Available
Interacting Proteins for ETAA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IDA,IEA | 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 |
No data available for Pathways by source and SIGNOR curated interactions for ETAA1 Gene
Transcripts for ETAA1 Gene
mRNA/cDNA for ETAA1 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (108) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ETAA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ETAA1
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETAA1
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miRNA Products
- Search ViGene Biosciences for ETAA1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ETAA1
- Browse OriGene Inhibitory RNA Products For ETAA1
- genomics-online: shRNA clones - Search results for 99 available ETAA1 gene related products
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-
ViGene Biosciences ready-to-package AAV shRNAs for ETAA1 gene
Clone Products
- Sino Biological Human cDNA Clone for ETAA1
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- VectorBuilder custom plasmid, inducible vectors for ETAA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ETAA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ETAA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of ETAA1 Gene:
ETAA1SOURCE GeneReport for Unigene cluster for ETAA1 Gene:
Hs.353022mRNA 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.
Primer Products
-
OriGene qPCR primer pairs for ETAA1
-
OriGene qPCR primer pairs and template standards for ETAA1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ETAA1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ETAA1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ETAA1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Etaa1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Etaa1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ETAA1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ETAA1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ETAA1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ETAA1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | etaa1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | etaa1 34 |
|
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)
Paralogs for ETAA1 Gene
No data available for Paralogs for ETAA1 Gene
Variants for ETAA1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035916 | A colorectal cancer sample | p.Glu50Asp | |||
| rs1000051421 | -- | 67,395,700(+) | A/G | upstream_transcript_variant | |
| rs1000233529 | -- | 67,401,938(+) | A/G | intron_variant | |
| rs1000813346 | -- | 67,407,004(+) | G/A | intron_variant | |
| rs1000835627 | -- | 67,400,380(+) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv834249 | CNV | loss | 17160897 |
| esv3892581 | CNV | loss | 25118596 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETAA1 Gene
Disorders for ETAA1 Gene
Additional Disease Information for ETAA1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for ETAA1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETAA1 Gene
Publications for ETAA1 Gene
- 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 58
- DNA Replication Checkpoint: New ATR Activator Identified. (PMID: 28073021) Zou L (Current biology : CB 2017) 2 3 58
- ETAA1 acts at stalled replication forks to maintain genome integrity. (PMID: 27723720) Bass TE … Cortez D (Nature cell biology 2016) 3 4 58
- Activation of the ATR kinase by the RPA-binding protein ETAA1. (PMID: 27723717) Haahr P … Mailand N (Nature cell biology 2016) 3 4 58
- 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 58
Products for ETAA1 Gene
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ETAA1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available ETAA1 related products ranked by validation data
- antibodies-online: Search results for available ETAA1 related products ranked by validation data
- antibodies-online: Search results for available ETAA1 related products ranked by validation data
- Search GeneTex for Antibodies for ETAA1
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Sources for ETAA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew