ETAA1 (ETAA1 activator of ATR kinase)

Gene

• Entrez ID: 54465
• Gene name: ETAA1 activator of ATR kinase
• Gene symbol: ETAA1
• Synonyms (NCBI Gene): ETAA16
• Chromosome: 2
• Chromosome location: 2p14

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IDA	19160488, 30139873
GO:0005515	Function	Protein binding	IPI	27723717, 27723720
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	27723717, 27723720
GO:0006974	Process	DNA damage response	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	27723717, 27723720
GO:0043539	Function	Protein serine/threonine kinase activator activity	IBA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	27723717, 27723720, 30139873
GO:0043596	Component	Nuclear replication fork	IBA
GO:0043596	Component	Nuclear replication fork	IDA	27723717, 27723720
GO:0044818	Process	Mitotic G2/M transition checkpoint	IDA	30139873
GO:0044818	Process	Mitotic G2/M transition checkpoint	IDA	30139873
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	27723717, 27723720
GO:2000001	Process	Regulation of DNA damage checkpoint	IBA
GO:2000001	Process	Regulation of DNA damage checkpoint	IDA	27723717, 27723720

Other IDs

• MIM: 613196
• HGNC: 24648
• e!Ensembl: ENSG00000143971

Protein

• UniProt ID: Q9NY74
• Protein name: Ewing's tumor-associated antigen 1 (Ewing's tumor-associated antigen 16)
• Protein function: Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723717, PubMed:27723720). Recruited to stalled replication forks via interaction with the
• PDB: 8JZV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15350	ETAA1	77 → 648		Family
  PF15350	ETAA1	647 → 913		Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in the brain, liver kidney and Ewing tumor cell lines. {ECO:0000269|PubMed:16003559}.
• Sequence:

  MSRRRKHDDSPSPKKTPHKTVAAEECGSVVEPGRRRLRSARGSWPCGAREGPPGPVRQRE
  QPPTAALCSKSNPEERYETPKRALKMDSLSSSFSSPNDPDGQNDIFWDQNSPLTKQLGKG
  RKKQIYTTDSDEISHIVNRIAPQDEKPTTNSMLDMWIGETAIPCTPSVAKGKSRAKISCT
  KLKTQSQEEELMKLAKQFDKNMEELDVIQEQNKRNYDFTQMISETEILSNYKDNIQMWSL
  HNIVPEIDNATKKPIKGNTKISVANNQNSSQKPFDQIAEAAFNAIFDGSTQKCSGQLSQE
  LPEAFWSTSNTTFVKTNALKEEKIITNETLVIEKLSNKTPRSLSSQVDTPIMTKSCVTSC
  TKEPETSNKYIDAFTTSDFEDDWENLLGSEPFAMQNIDMPELFPSKTAHVTDQKEICTFN
  SKTVKNTSRANTSPDARLGDSKVLQDLSSKTYDRELIDAEYRFSPNSNKSNKLSTGNKMK
  FENSSNKIVIQDEIQNCIVTSNLTKIKEDILTNSTEASERKSALNTRYSNEQKNKCILNQ
  SIKAPVNTDLFGSANLGSKTSVSNPNQTSASKVGSFFDDWNDPSFANEIIKACHQLDNTW
  EADDVDDDLLYQACDDIERLTQQQDIRKDSKTSESICEINNNSEHGAKLTQQQDIRKDSK
  TSESICEINNNSEHGAKNMFAISKQGSNLVQSKHLNPGSISVQTSLTNSSQIDKPMKMEK
  GEMYGNSPRFLGATNLTMYSKISNCQINNLHVSYTNTDVPIQVNSSKLVLPGSSSLNVTS
  DHMNTEITTYKKKLSTNQPCHKTVTDEAQSNLNTTVGFSKFTFTRMKNSQILSQFNQNCI
  TGSMSDTKITQGVEKKKGVNPLLEEAVGQQSLVKLSESLKQSSKEEEEKNRKCSPEEIQR
  KRQEALVRRMAKARASSVNAAPTSFL

• Sequence length: 926

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27601467	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31615875		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36935420	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26098869, 27601467	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations