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

Gene ID: 54465, updated on 5-Aug-2022

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
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Genomic context

See ETAA1 in Genome Data Viewer
Location:
2p14
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (67397333..67412089)
110 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 1828 Neighboring gene uncharacterized LOC101927661 Neighboring gene HHc2:066644 enhancer downstream of MEIS1 Neighboring gene HHc2:066683 enhancer downstream of MEIS1 Neighboring gene uncharacterized LOC107985891 Neighboring gene uncharacterized LOC124907804

Genomic regions, transcripts, and products

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

Homology

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
PubMed 
enables protein serine/threonine kinase activator activity 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
PubMed 
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)

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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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)