U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Atr ataxia telangiectasia and Rad3 related [ Mus musculus (house mouse) ]

Gene ID: 245000, updated on 21-Apr-2024

Summary

Official Symbol
Atrprovided by MGI
Official Full Name
ataxia telangiectasia and Rad3 relatedprovided by MGI
Primary source
MGI:MGI:108028
See related
Ensembl:ENSMUSG00000032409 AllianceGenome:MGI:108028
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables protein kinase activity. Involved in positive regulation of telomere maintenance via telomerase and replication fork processing. Acts upstream of or within several processes, including DNA damage checkpoint signaling; embryo implantation; and protein phosphorylation. Located in XY body. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; eye; and gonad. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 1; adenoid cystic carcinoma; colon cancer; lung cancer; and pancreatic cancer. Orthologous to human ATR (ATR serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 8.1), CNS E11.5 (RPKM 3.4) and 21 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Location:
9 E3.3; 9 50.27 cM
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (95739655..95834813)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (95857597..95953217)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39407 Neighboring gene transient receptor potential cation channel, subfamily C, member 1 Neighboring gene plastin 1 (I-isoform) Neighboring gene VISTA enhancer mm1367 Neighboring gene RIKEN cDNA 1700065D16 gene Neighboring gene STARR-positive B cell enhancer ABC_E5095 Neighboring gene STARR-positive B cell enhancer ABC_E894 Neighboring gene STARR-positive B cell enhancer mm9_chr9:95758941-95759242 Neighboring gene STARR-seq mESC enhancer starr_24939 Neighboring gene STARR-positive B cell enhancer ABC_E3852 Neighboring gene predicted gene, 24004 Neighboring gene predicted gene, 16794 Neighboring gene STARR-positive B cell enhancer ABC_E8307 Neighboring gene STARR-seq mESC enhancer starr_24940 Neighboring gene 5'-3' exoribonuclease 1 Neighboring gene STARR-seq mESC enhancer starr_24941 Neighboring gene STARR-seq mESC enhancer starr_24942 Neighboring gene STARR-positive B cell enhancer ABC_E8308 Neighboring gene glycerol kinase 5

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (9)  1 citation
  • Endonuclease-mediated (5) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables MutLalpha complex binding ISO
Inferred from Sequence Orthology
more info
 
enables MutSalpha complex binding ISO
Inferred from Sequence Orthology
more info
 
enables histone H2AXS139 kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
 
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to UV ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to gamma radiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within embryo implantation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of RNA localization to telomere ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic G2/M transition checkpoint ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of DNA replication ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of nuclear membrane disassembly ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleobase-containing compound metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in peptidyl-serine phosphorylation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomerase catalytic core complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in replicative senescence ISO
Inferred from Sequence Orthology
more info
 
involved_in response to mechanical stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of ATR-ATRIP complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of ATR-ATRIP complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in PML body ISO
Inferred from Sequence Orthology
more info
 
located_in XY body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in chromosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extrinsic component of synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in male germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in site of DNA damage ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase ATR
Names
ataxia telangiectasia and Rad3-related protein
NP_063917.1
XP_006511247.1
XP_036010906.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_019864.2NP_063917.1  serine/threonine-protein kinase ATR

    Status: VALIDATED

    Source sequence(s)
    AC091531, AC121499
    Consensus CDS
    CCDS52890.1
    UniProtKB/Swiss-Prot
    Q3TBS8, Q3TNX3, Q3TZM6, Q3UT26, Q3V1V6, Q571L3, Q9JKK8
    UniProtKB/TrEMBL
    A0A1L1SSL9
    Related
    ENSMUSP00000149953.2, ENSMUST00000215311.2
    Conserved Domains (7) summary
    smart00802
    Location:11191225
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:21232641
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22902564
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17712092
    FAT; FAT domain
    pfam02260
    Location:26102641
    FATC; FATC domain
    sd00044
    Location:690720
    HEAT; HEAT repeat [structural motif]
    cl11397
    Location:15291607
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    95739655..95834813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511184.5XP_006511247.1  serine/threonine-protein kinase ATR isoform X1

    UniProtKB/Swiss-Prot
    Q3TBS8, Q3TNX3, Q3TZM6, Q3UT26, Q3V1V6, Q571L3, Q9JKK8
    UniProtKB/TrEMBL
    E9QPK4
    Related
    ENSMUSP00000034980.9, ENSMUST00000034980.9
    Conserved Domains (5) summary
    smart00802
    Location:11191225
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    COG5032
    Location:21172635
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd00892
    Location:22842558
    PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
    pfam02259
    Location:17772086
    FAT; FAT domain
    cl11397
    Location:15291607
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  2. XM_036155013.1XP_036010906.1  serine/threonine-protein kinase ATR isoform X2

    Conserved Domains (2) summary
    smart00802
    Location:11191225
    UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
    sd00044
    Location:690720
    HEAT; HEAT repeat [structural motif]

RNA

  1. XR_001778905.2 RNA Sequence

  2. XR_003947900.1 RNA Sequence

  3. XR_003947901.1 RNA Sequence

  4. XR_004935437.1 RNA Sequence

    Related
    ENSMUST00000185473.7