• Gene id: 54465

Gene Summary

• Gene Symbol: ETAA1   Gene   UCSC   Ensembl
• Aliases: ETAA16
• Gene name: ETAA1 activator of ATR kinase
• Alternate names: ewing's tumor-associated antigen 1, ETAA1, ATR kinase activator, Ewing tumor associated antigen 1, ewing's tumor-associated antigen 16,
• Gene location: 2p14 (67397316: 67412088)     Exons: 7     NC_000002.12

Protein Summary

• Protein general information: Q9NY74  
  • Name: Ewing's tumor associated antigen 1 (Ewing's tumor associated antigen 16)
  • Length: 926  
  • Mass: 103440
  • Tissue specificity: Expressed at high levels in the brain, liver kidney and Ewing tumor cell lines. {ECO
• Sequence:

  MSRRRKHDDSPSPKKTPHKTVAAEECGSVVEPGRRRLRSARGSWPCGAREGPPGPVRQREQPPTAALCSKSNPEE
  RYETPKRALKMDSLSSSFSSPNDPDGQNDIFWDQNSPLTKQLGKGRKKQIYTTDSDEISHIVNRIAPQDEKPTTN
  SMLDMWIGETAIPCTPSVAKGKSRAKISCTKLKTQSQEEELMKLAKQFDKNMEELDVIQEQNKRNYDFTQMISET
  EILSNYKDNIQMWSLHNIVPEIDNATKKPIKGNTKISVANNQNSSQKPFDQIAEAAFNAIFDGSTQKCSGQLSQE
  LPEAFWSTSNTTFVKTNALKEEKIITNETLVIEKLSNKTPRSLSSQVDTPIMTKSCVTSCTKEPETSNKYIDAFT
  TSDFEDDWENLLGSEPFAMQNIDMPELFPSKTAHVTDQKEICTFNSKTVKNTSRANTSPDARLGDSKVLQDLSSK
  TYDRELIDAEYRFSPNSNKSNKLSTGNKMKFENSSNKIVIQDEIQNCIVTSNLTKIKEDILTNSTEASERKSALN
  TRYSNEQKNKCILNQSIKAPVNTDLFGSANLGSKTSVSNPNQTSASKVGSFFDDWNDPSFANEIIKACHQLDNTW
  EADDVDDDLLYQACDDIERLTQQQDIRKDSKTSESICEINNNSEHGAKLTQQQDIRKDSKTSESICEINNNSEHG
  AKNMFAISKQGSNLVQSKHLNPGSISVQTSLTNSSQIDKPMKMEKGEMYGNSPRFLGATNLTMYSKISNCQINNL
  HVSYTNTDVPIQVNSSKLVLPGSSSLNVTSDHMNTEITTYKKKLSTNQPCHKTVTDEAQSNLNTTVGFSKFTFTR
  MKNSQILSQFNQNCITGSMSDTKITQGVEKKKGVNPLLEEAVGQQSLVKLSESLKQSSKEEEEKNRKCSPEEIQR
  KRQEALVRRMAKARASSVNAAPTSFL

• Structural information:
  • Interpro: IPR029406  
  • DIP: 47294
  • STRING: ENSP00000272342
• Other Databases: GeneCards:  ETAA1  Malacards:  ETAA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IBA	biological process
GO:2000001	regulation of DNA damage checkpoint	IBA	biological process
GO:0031297	replication fork processing	IBA	biological process
GO:0043539	protein serine/threonine kinase activator activity	IBA	molecular function
GO:0043596	nuclear replication fork	IBA	cellular component
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0031297	replication fork processing	IDA	biological process
GO:0031297	replication fork processing	IDA	biological process
GO:2000001	regulation of DNA damage checkpoint	IDA	biological process
GO:2000001	regulation of DNA damage checkpoint	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IBA	biological process
GO:2000001	regulation of DNA damage checkpoint	IBA	biological process
GO:0031297	replication fork processing	IBA	biological process
GO:0043539	protein serine/threonine kinase activator activity	IBA	molecular function
GO:0043596	nuclear replication fork	IBA	cellular component
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0031297	replication fork processing	IDA	biological process
GO:0031297	replication fork processing	IDA	biological process
GO:2000001	regulation of DNA damage checkpoint	IDA	biological process
GO:2000001	regulation of DNA damage checkpoint	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R