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ATR ATR serine/threonine kinase [ Homo sapiens (human) ]

Gene ID: 545, updated on 9-Feb-2020

Summary

Official Symbol
ATRprovided by HGNC
Official Full Name
ATR serine/threonine kinaseprovided by HGNC
Primary source
HGNC:HGNC:882
See related
Ensembl:ENSG00000175054 MIM:601215
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRP1; MEC1; SCKL; FCTCS; SCKL1
Summary
The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in testis (RPKM 5.4), adrenal (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See ATR in Genome Data Viewer
Location:
3q23
Exon count:
49
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (142449235..142578793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142168077..142297668, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 5'-3' exoribonuclease 1 Neighboring gene RNA, U6 small nuclear 1294, pseudogene Neighboring gene RNA, U1 small nuclear 100, pseudogene Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 pseudogene Neighboring gene SUCLG2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 143 Neighboring gene ribosomal protein L6 pseudogene 9

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr Upregulation of NKG2D ligands is dependent on HIV-1 Vpr-mediated activation of the ATR DNA damage/stress pathway, which requires the recruitment of the Cul4/DDB1/DCAF1 E3 ubiquitin ligase complex PubMed
vpr HIV-1 Vpr activates ATR, resulting in phosphorylation of Chk1 and activation of the ATR-mediated DNA damage response PubMed
vpr Depletion of A-alpha and C-beta subunits of PP2A reduces Vpr-induced G2 arrest to the same extent as depletion of ATM and Rad3-related (ATR) PubMed
vpr HIV-1 Vpr-mediated upregulation of PVR (CD155) requires the interaction of Vpr with the DDB1-Cul4A E3 ligase and induction of ATR-mediated DNA damage repair and G2 arrest PubMed
vpr ATR-induced phosphorylation of Chk1-Ser(345) requires PP2A only when Vpr activates ATR PubMed
vpr HIV-1 Vpr induces phosphorylation of replication protein A (RPA32) at serine 4 and 8 in an ATR-dependent manner PubMed
vpr HIV-1 Vpr-induced apoptosis is mediated via Bax, downstream of ATR activation PubMed
vpr HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner PubMed
integrase gag-pol ATR kinase is hypothesized to be required for successful completion of the HIV-1 viral DNA integration process, suggesting a functional interaction with HIV-1 Integrase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
MutLalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
MutSalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus TAS
Traceable Author Statement
more info
PubMed 
cellular response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
establishment of RNA localization to telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein-containing complex localization to telomere IC
Inferred by Curator
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomerase catalytic core complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomere maintenance via telomerase ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
replicative senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with nuclear chromosome, telomeric region IC
Inferred by Curator
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase ATR
Names
FRAP-related protein-1
MEC1, mitosis entry checkpoint 1, homolog
ataxia telangiectasia and Rad3-related protein
NP_001175.2
NP_001341508.1
XP_011511226.1
XP_011511227.1

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.

Genomic

  1. NG_008951.1 RefSeqGene

    Range
    5094..134592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184.4NP_001175.2  serine/threonine-protein kinase ATR isoform 1

    See identical proteins and their annotated locations for NP_001175.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BE859077, U49844, U76308
    Consensus CDS
    CCDS3124.1
    UniProtKB/Swiss-Prot
    Q13535
    Related
    ENSP00000343741.4, ENST00000350721.9
    Conserved Domains (4) summary
    smart00802
    Location:11191224
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:21332644
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22932567
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17712092
    FAT; FAT domain
  2. NM_001354579.2NP_001341508.1  serine/threonine-protein kinase ATR isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC109992, AC134509
    Related
    ENSP00000499589.1, ENST00000661310.1
    Conserved Domains (4) summary
    smart00802
    Location:10551160
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:20692580
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22292503
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17072028
    FAT; FAT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    142449235..142578793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512925.1XP_011511227.1  serine/threonine-protein kinase ATR isoform X2

    Conserved Domains (5) summary
    smart00802
    Location:10551160
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:20712582
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22312505
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17092030
    FAT; FAT domain
    pfam02260
    Location:25512582
    FATC; FATC domain
  2. XM_011512924.1XP_011511226.1  serine/threonine-protein kinase ATR isoform X1

    Conserved Domains (5) summary
    smart00802
    Location:11191224
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:21352646
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22952569
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17732094
    FAT; FAT domain
    pfam02260
    Location:26152646
    FATC; FATC domain

RNA

  1. XR_001740179.2 RNA Sequence

  2. XR_924148.2 RNA Sequence

  3. XR_001740182.1 RNA Sequence

  4. XR_001740181.2 RNA Sequence

  5. XR_002959543.1 RNA Sequence

  6. XR_001740180.2 RNA Sequence

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