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

Gene ID: 54465, updated on 22-Aug-2020

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
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
Expression
Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues See more
Orthologs

Genomic context

See ETAA1 in Genome Data Viewer
Location:
2p14
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (67397317..67412089)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (67624442..67637540)

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 LOC105374786 Neighboring gene long intergenic non-protein coding RNA 2831

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

Associated conditions

Description Tests
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear replication fork IDA
Inferred from Direct Assay
more info
PubMed 

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)

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
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    67397317..67412089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017004377.1XP_016859866.1  ewing's tumor-associated antigen 1 isoform X2

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