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

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: human all
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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_000075.7 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear ATR lysine-tyrosylation protects against heart failure by activating DNA damage response.
Title: Nuclear ATR lysine-tyrosylation protects against heart failure by activating DNA damage response.
Ataxia-televangelist mutated (ATM)/ ATR serine/threonine kinase (ATR)-mediated RAD51 recombinase (RAD51) promotes osteogenic differentiation and inhibits osteoclastogenesis in osteoporosis.
Title: Ataxia-televangelist mutated (ATM)/ ATR serine/threonine kinase (ATR)-mediated RAD51 recombinase (RAD51) promotes osteogenic differentiation and inhibits osteoclastogenesis in osteoporosis.
Reprogramming of nucleotide metabolism by interferon confers dependence on the replication stress response pathway in pancreatic cancer cells.
Title: Reprogramming of nucleotide metabolism by interferon confers dependence on the replication stress response pathway in pancreatic cancer cells.
ATR regulates neuronal activity by modulating presynaptic firing.
Title: ATR regulates neuronal activity by modulating presynaptic firing.
The Atr-Chek1 pathway inhibits axon regeneration in response to Piezo-dependent mechanosensation.
Title: The Atr-Chek1 pathway inhibits axon regeneration in response to Piezo-dependent mechanosensation.
ATR activation is a key component of the DDR, which confers a protective effect mitigating the maladaptive repair and consequent fibrosis that follow kidney injury.
Title: Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses.
An absence of 53BP1 leads to defective ATR-Chk1-p53 signaling.
Title: 53BP1 Mediates ATR-Chk1 Signaling and Protects Replication Forks under Conditions of Replication Stress.
nearly identical POT1b subunit of shelterin has been shown to be much less proficient than POT1a in repression of ATR
Title: Protection of telomeres 1 proteins POT1a and POT1b can repress ATR signaling by RPA exclusion, but binding to CST limits ATR repression by POT1b.
The results reveal mechanistic differences between ATR inhibition and ATR loss, with implications for ATR signaling and cancer therapy.
Title: Kinase-dead ATR differs from ATR loss by limiting the dynamic exchange of ATR and RPA.
Data show that ataxia telangiectasia and rad3 related protein (ATR) plays multiple roles in mammalian meiotic recombination.
Title: ATR is required to complete meiotic recombination in mice.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (9) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: serine/threonine-protein kinase ATR

Names: ataxia telangiectasia and Rad3-related protein

NP_063917.1

EC 2.7.11.1

XP_006511247.1

EC 2.7.11.1

XP_036010906.1

EC 2.7.11.1

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_019864.2 → NP_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:1119 → 1225

UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1

COG5032
Location:2123 → 2641

TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]

cd00892
Location:2290 → 2564

PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins

pfam02259
Location:1771 → 2092

FAT; FAT domain

pfam02260
Location:2610 → 2641

FATC; FATC domain

sd00044
Location:690 → 720

HEAT; HEAT repeat [structural motif]

cl11397
Location:1529 → 1607

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

95739655..95834813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511184.5 → XP_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:1119 → 1225

UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1

COG5032
Location:2117 → 2635

TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]

cd00892
Location:2284 → 2558

PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins

pfam02259
Location:1777 → 2086

FAT; FAT domain

cl11397
Location:1529 → 1607

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
XM_036155013.1 → XP_036010906.1 serine/threonine-protein kinase ATR isoform X2

Conserved Domains (2) summary

smart00802
Location:1119 → 1225

UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1

sd00044
Location:690 → 720

HEAT; HEAT repeat [structural motif]