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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATR activation is regulated by dimerization of ATR activating proteins.
Title: ATR activation is regulated by dimerization of ATR activating proteins.
ETAA1 may have an important role in protecting against genome instability arising from incompletely duplicated DNA via regulatory control of its ATR-stimulating potential
Title: Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability.
ETAA1 regulates mitotic ATR signaling and is required for proper chromosome alignment during metaphase and for a fully functional spindle assembly checkpoint response.
Title: Quantitative phosphoproteomics reveals mitotic function of the ATR activator ETAA1.
ETAA1 and TOPBP1 contain a predicted coiled-coil motif that is required for ATR activation in vitro and in cells. Mutation of the predicted coiled coils does not alter AAD oligomerization but does impair binding of the AADs to ATR.
Title: Common motifs in ETAA1 and TOPBP1 required for ATR kinase activation.
These our data suggest that ETAA1 is a new ATR activator involved in replication checkpoint control.
Title: RPA-Binding Protein ETAA1 Is an ATR Activator Involved in DNA Replication Stress Response.
results reveal that ETAA1 is a novel RPA-interacting protein that promotes restart of stalled replication forks.
Title: Ewing Tumor-associated Antigen 1 Interacts with Replication Protein A to Promote Restart of Stalled Replication Forks.
ETAA1 acts as a direct ATR serine-threonine kinase protein activator
Title: ETAA1 acts at stalled replication forks to maintain genome integrity.
that parallel TopBP1- and ETAA1-mediated pathways underlie ATR activation and that their combined action is essential for coping with replication stress
Title: Activation of the ATR kinase by the RPA-binding protein ETAA1.
results suggest that ETAA16 may function as a tumour-specific cell surface antigen in Ewing's family of tumors
Title: Structure and function of ETAA16: a novel cell surface antigen in Ewing's tumours.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46083 (e-PCR)
- UniSTS:30380

G59863 (e-PCR)
- UniSTS:137146

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	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

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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)

NM_019002.4 → NP_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:77 → 913

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

67397333..67412089

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam15350
Location:77 → 884

ETAA1; Ewing's tumor-associated antigen 1 homolog
XM_017004377.2 → XP_016859866.1 ewing's tumor-associated antigen 1 isoform X2

Conserved Domains (1) summary

pfam15350
Location:77 → 884

ETAA1; Ewing's tumor-associated antigen 1 homolog
XM_047444809.1 → XP_047300765.1 ewing's tumor-associated antigen 1 isoform X3