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    ETAA1 ETAA1 activator of ATR kinase [ Homo sapiens (human) ]

    Gene ID: 54465, updated on 17-Jun-2024

    Summary

    Official Symbol
    ETAA1provided by HGNC
    Official Full Name
    ETAA1 activator of ATR kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:24648
    See related
    Ensembl:ENSG00000143971 MIM:613196; AllianceGenome:HGNC:24648
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ETAA16
    Summary
    Enables protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation of protein serine/threonine kinase activity; regulation of DNA damage checkpoint; and replication fork processing. Located in cytosol; nuclear replication fork; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ETAA1 in Genome Data Viewer
    Location:
    2p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (67397333..67412089)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (67407046..67421800)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (67624465..67639221)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1799 Neighboring gene uncharacterized LOC105374785 Neighboring gene HHc2:066104 enhancer downstream of MEIS1 Neighboring gene HHc2:066522 enhancer downstream of MEIS1 Neighboring gene long intergenic non-protein coding RNA 1828 Neighboring gene long intergenic non-protein coding RNA 1829 Neighboring gene uncharacterized LOC101927661 Neighboring gene HHc2:066644 enhancer downstream of MEIS1 Neighboring gene HHc2:066683 enhancer downstream of MEIS1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:67556875-67557456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:67558406-67558919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:67559946-67560457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:67560458-67560970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:67561484-67561996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:67583148-67583648 Neighboring gene uncharacterized LOC107985891 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:67690923-67691503 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58804 Neighboring gene uncharacterized LOC124907804

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic G2/M transition checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA damage checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA damage checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nuclear replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ewing's tumor-associated antigen 1
    Names
    ETAA1, ATR kinase activator
    Ewing tumor associated antigen 1
    ewing's tumor-associated antigen 16

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_019002.4NP_061875.2  ewing's tumor-associated antigen 1

      See identical proteins and their annotated locations for NP_061875.2

      Status: VALIDATED

      Source sequence(s)
      AC023668, AJ242682, AW978869, BC033075, BC040001
      Consensus CDS
      CCDS1882.1
      UniProtKB/Swiss-Prot
      Q05BT7, Q53SC4, Q9NY74
      Related
      ENSP00000272342.5, ENST00000272342.6
      Conserved Domains (1) summary
      pfam15350
      Location:77913
      ETAA1; Ewing's tumour-associated antigen 1 homologue

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      67397333..67412089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004376.2XP_016859865.1  ewing's tumor-associated antigen 1 isoform X1

      Conserved Domains (1) summary
      pfam15350
      Location:77884
      ETAA1; Ewing's tumor-associated antigen 1 homolog
    2. XM_017004377.2XP_016859866.1  ewing's tumor-associated antigen 1 isoform X2

      Conserved Domains (1) summary
      pfam15350
      Location:77884
      ETAA1; Ewing's tumor-associated antigen 1 homolog
    3. XM_047444809.1XP_047300765.1  ewing's tumor-associated antigen 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      67407046..67421800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342634.1XP_054198609.1  ewing's tumor-associated antigen 1 isoform X1