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

Gene ID: 54465, updated on 10-Dec-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 cell cycle phase transition; and replication fork processing. Located in cytosol; nuclear replication fork; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

See ETAA1 in Genome Data Viewer
Location:
2p14
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (67397333..67412089)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (67407046..67421800)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • FLJ22647

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol  
is_active_in nuclear replication fork  
located_in nuclear replication fork PubMed 
located_in nucleoplasm  

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)

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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_2024_08

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

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