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HUMAN:ATM

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Contents

Species (Taxon ID) Homo sapiens (Human). ([1])
Gene Name(s) ATM
Protein Name(s) Serine-protein kinase ATM

Ataxia telangiectasia mutated A-T mutated

External Links
EMBL U33841
U55757
U55704
U55705
U55707
U55708
U55709
U55710
U55711
U55712
U55713
U55714
U55715
U55716
U55717
U55718
U55719
U55720
U55721
U55722
U55723
U55724
U55725
U55726
U55727
U55728
U55729
U55730
U55731
U55732
U55733
U55734
U55735
U55736
U55737
U55738
U55739
U55740
U55741
U55742
U55743
U55744
U55745
U55746
U55747
U55748
U55749
U55750
U55751
U55752
U55753
U55754
U55755
U55756
U55757
U55726
U55727
U55728
U55729
U55730
U55731
U55732
U55733
U55734
U55735
U55736
U55737
U55738
U55739
U55740
U55741
U55742
U55743
U55744
U55745
U55746
U55747
U55748
U55749
U55750
U55751
U55752
U55753
U55754
U55755
U55756
U82828
AP001925
AP005718
CH471065
X91196
U67092
AY220758
U26455
BC137169
IPI IPI00298306
PIR A43100
RefSeq NP_000042.3
UniGene Hs.367437
ProteinModelPortal Q13315
DIP DIP-182N
IntAct Q13315
MINT MINT-194471
STRING Q13315
PhosphoSite Q13315
PRIDE Q13315
Ensembl ENST00000278616
GeneID 472
KEGG hsa:472
CTD 472
GeneCards GC11P104019
H-InvDB HIX0010089
HGNC HGNC:795
HPA CAB000102
MIM 208900
607585
neXtProt NX_Q13315
Orphanet 100
67038
52416
PharmGKB PA61
eggNOG prNOG08080
HOVERGEN HBG004304
InParanoid Q13315
OrthoDB EOG4X97G7
Pathway_Interaction_DB bard1pathway
nfkappabcanonicalpathway
p38_mkk3_6pathway
telomerasepathway
Reactome REACT_1538
REACT_216
REACT_27271
NextBio 1949
ArrayExpress Q13315
Bgee Q13315
CleanEx HS_ATM
Genevestigator Q13315
GermOnline ENSG00000149311
GO GO:0016023
GO:0005654
GO:0016303
GO:0005524
GO:0003677
GO:0004677
GO:0042802
GO:0032403
GO:0046983
GO:0047485
GO:0007050
GO:0071480
GO:0006975
GO:0006977
GO:0000724
GO:0031572
GO:0071044
GO:0007094
GO:0030889
GO:0018105
GO:0043517
GO:0002331
GO:0046777
GO:0007131
GO:0090399
InterPro IPR016024
IPR015519
IPR003152
IPR011009
IPR000403
IPR018936
IPR003151
IPR014009
IPR021668
Gene3D G3DSA:1.10.1070.11
PANTHER PTHR11139:SF3
Pfam PF02259
PF02260
PF00454
PF11640
SMART SM00146
SUPFAM SSF48371
SSF56112
PROSITE PS51189
PS51190
PS00915
PS00916
PS50290

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0000075

cell cycle checkpoint

Reactome:REACT_1538

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0000077

DNA damage checkpoint

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0000166

nucleotide binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0547

F

Seeded From UniProt

GO:0000724

double-strand break repair via homologous recombination

Reactome:REACT_1874

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0001666

response to hypoxia

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0001756

somitogenesis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0002331

pre-B cell allelic exclusion

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0002331

pre-B cell allelic exclusion

GO_REF:0000024

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:Q62388

P

Seeded From UniProt

GO:0003677

DNA binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0238

F

Seeded From UniProt

GO:0004672

protein kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR015519

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR021668

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0723

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

PMID:11375976[1]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

PMID:20096447[2]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0004674

protein serine/threonine kinase activity

PMID:9733515[3]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0004677

DNA-dependent protein kinase activity

PMID:15790808[4]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0005488

binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR016024

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11375976[1]

IPI: Inferred from Physical Interaction

UniProtKB:P54274

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11375976[1]

IPI: Inferred from Physical Interaction

UniProtKB:P54274

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11375976[1]

IPI: Inferred from Physical Interaction

UniProtKB:P54274-1

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11375976[1]

IPI: Inferred from Physical Interaction

UniProtKB:P54274-2

F

Seeded From UniProt

GO:0005515

protein binding

PMID:11375976[1]

IPI: Inferred from Physical Interaction

UniProtKB:P54274-2

F

Seeded From UniProt

GO:0005515

protein binding

PMID:12607005[5]

IPI: Inferred from Physical Interaction

UniProtKB:Q14676

F

Seeded From UniProt

GO:0005515

protein binding

PMID:16452482[6]

IPI: Inferred from Physical Interaction

UniProtKB:Q6PJG6

F

Seeded From UniProt

GO:0005515

protein binding

PMID:17157788[7]

IPI: Inferred from Physical Interaction

UniProtKB:Q9NY61

F

Seeded From UniProt

GO:0005515

protein binding

PMID:18160036[8]

IPI: Inferred from Physical Interaction

UniProtKB:Q9Y4R8

F

Seeded From UniProt

GO:0005515

protein binding

PMID:18449195[9]

IPI: Inferred from Physical Interaction

UniProtKB:Q9BQ15

F

Seeded From UniProt

GO:0005515

protein binding

PMID:18710941[10]

IPI: Inferred from Physical Interaction

UniProtKB:Q92499

F

Seeded From UniProt

GO:0005524

ATP binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0067

F

Seeded From UniProt

GO:0005634

nucleus

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0539

C

Seeded From UniProt

GO:0005634

nucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

C

Seeded From UniProt

GO:0005634

nucleus

GO_REF:0000023

IEA: Inferred from Electronic Annotation

SP_SL:SL-0191

C

Seeded From UniProt

GO:0005654

nucleoplasm

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1116

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1167

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1304

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1517

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1603

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1756

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_1782

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_18293

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_18335

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_2009

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_20543

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_937

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005654

nucleoplasm

Reactome:REACT_988

TAS: Traceable Author Statement

C

Seeded From UniProt

GO:0005737

cytoplasm

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

C

Seeded From UniProt

GO:0005819

spindle

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

C

Seeded From UniProt

GO:0006281

DNA repair

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0234

P

Seeded From UniProt

GO:0006281

DNA repair

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0006281

DNA repair

Reactome:REACT_216

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0006302

double-strand break repair

Reactome:REACT_2054

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0006468

protein phosphorylation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0006915

apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0006974

response to DNA damage stimulus

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0227

P

Seeded From UniProt

GO:0006974

response to DNA damage stimulus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0006974

response to DNA damage stimulus

PMID:15790808[4]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0006974

response to DNA damage stimulus

PMID:17875758[11]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0006975

DNA damage induced protein phosphorylation

PMID:9733515[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

Reactome:REACT_1625

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0007049

cell cycle

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0131

P

Seeded From UniProt

GO:0007050

cell cycle arrest

PMID:15149599[12]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0007094

mitotic cell cycle spindle assembly checkpoint

PMID:11943150[13]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0007131

reciprocal meiotic recombination

PMID:7792600[14]

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0007165

signal transduction

PMID:7792600[14]

TAS: Traceable Author Statement

P

Seeded From UniProt

GO:0007292

female gamete generation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0007420

brain development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0007507

heart development

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0008219

cell death

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0523

P

Seeded From UniProt

GO:0008630

DNA damage response, signal transduction resulting in induction of apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0010212

response to ionizing radiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0010212

response to ionizing radiation

PMID:11375976[1]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0010212

response to ionizing radiation

PMID:9733515[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0016023

cytoplasmic membrane-bounded vesicle

GO_REF:0000023

IEA: Inferred from Electronic Annotation

SP_SL:SL-0088

C

Seeded From UniProt

GO:0016301

kinase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0418

F

Seeded From UniProt

GO:0016301

kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

F

Seeded From UniProt

GO:0016303

1-phosphatidylinositol-3-kinase activity

PMID:11375976[1]

IMP: Inferred from Mutant Phenotype

F

Seeded From UniProt

GO:0016310

phosphorylation

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0418

P

Seeded From UniProt

GO:0016310

phosphorylation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0016572

histone phosphorylation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0016740

transferase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0808

F

Seeded From UniProt

GO:0016772

transferase activity, transferring phosphorus-containing groups

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR011009

F

Seeded From UniProt

GO:0016773

phosphotransferase activity, alcohol group as acceptor

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR000403

F

Seeded From UniProt

GO:0016773

phosphotransferase activity, alcohol group as acceptor

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018936

F

Seeded From UniProt

GO:0018105

peptidyl-serine phosphorylation

PMID:9733515[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0030889

negative regulation of B cell proliferation

PMID:17875758[11]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0031410

cytoplasmic vesicle

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0968

C

Seeded From UniProt

GO:0031572

G2/M transition DNA damage checkpoint

PMID:15149599[12]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0032403

protein complex binding

PMID:15790808[4]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0035174

histone serine kinase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

F

Seeded From UniProt

GO:0035404

histone-serine phosphorylation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0042159

lipoprotein catabolic process

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0043065

positive regulation of apoptosis

PMID:17875758[11]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0043066

negative regulation of apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0043517

positive regulation of DNA damage response, signal transduction by p53 class mediator

PMID:9733515[3]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0043525

positive regulation of neuron apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0046777

protein autophosphorylation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0046777

protein autophosphorylation

PMID:15790808[4]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0046777

protein autophosphorylation

PMID:9733515[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0046983

protein dimerization activity

PMID:15790808[4]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0047485

protein N-terminus binding

PMID:11375976[1]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

GO:0051402

neuron apoptosis

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000113388

P

Seeded From UniProt

GO:0051726

regulation of cell cycle

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSRNOP00000045529

P

Seeded From UniProt

GO:0071044

histone mRNA catabolic process

PMID:16086026[15]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0071480

cellular response to gamma radiation

PMID:9925639[16]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

GO:0090399

replicative senescence

PMID:15149599[12]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

GO:0000781

chromosome, telomeric region

PMID:15149599[12]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

GO:0045860

positive regulation of protein kinase activity

PMID:10973490[17]

IMP: Inferred from Mutant Phenotype

P

Figure 6: Mutation of all seven SQ/TQ motifs significantly reduced phosphorylation and activation of Chk2 protein kinase in response to DNA damage by Ionizing Radiation.

complete

GO:0004674

protein serine/threonine kinase activity

PMID:22266654[18]

IDA: Inferred from Direct Assay

F

ATM phosphorylates TRF1 at serine367: Figure 1.

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Kishi S et al. (2001) Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks. J Biol Chem 276: 29282-91 PubMed GONUTS page
  2. ↑ Yuan J et al. (2010) USP10 regulates p53 localization and stability by deubiquitinating p53. Cell 140: 384-96 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Canman CE et al. (1998) Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 281: 1677-9 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 4.4 Lee JH & Paull TT (2005) ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 308: 551-4 PubMed GONUTS page
  5. ↑ Stewart GS et al. (2003) MDC1 is a mediator of the mammalian DNA damage checkpoint. Nature 421: 961-6 PubMed GONUTS page
  6. ↑ Aglipay JA et al. (2006) ATM activation by ionizing radiation requires BRCA1-associated BAAT1. J Biol Chem 281: 9710-8 PubMed GONUTS page
  7. ↑ Bruno T et al. (2006) Che-1 phosphorylation by ATM/ATR and Chk2 kinases activates p53 transcription and the G2/M checkpoint. Cancer Cell 10: 473-86 PubMed GONUTS page
  8. ↑ Takai H et al. (2007) Tel2 regulates the stability of PI3K-related protein kinases. Cell 131: 1248-59 PubMed GONUTS page
  9. ↑ Richard DJ et al. (2008) Single-stranded DNA-binding protein hSSB1 is critical for genomic stability. Nature 453: 677-81 PubMed GONUTS page
  10. ↑ Li L et al. (2008) A role for DEAD box 1 at DNA double-strand breaks. Mol Cell Biol 28: 6413-25 PubMed GONUTS page
  11. ↑ 11.0 11.1 11.2 Joshi AD et al. (2007) ATM, CTLA4, MNDA, and HEM1 in high versus low CD38 expressing B-cell chronic lymphocytic leukemia. Clin Cancer Res 13: 5295-304 PubMed GONUTS page
  12. ↑ 12.0 12.1 12.2 12.3 Herbig U et al. (2004) Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53, and p21(CIP1), but not p16(INK4a). Mol Cell 14: 501-13 PubMed GONUTS page
  13. ↑ Nakamura M et al. (2002) Involvement of the telomeric protein Pin2/TRF1 in the regulation of the mitotic spindle. FEBS Lett 514: 193-8 PubMed GONUTS page
  14. ↑ 14.0 14.1 Savitsky K et al. (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-53 PubMed GONUTS page
  15. ↑ Kaygun H & Marzluff WF (2005) Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. Nat Struct Mol Biol 12: 794-800 PubMed GONUTS page
  16. ↑ Tibbetts RS et al. (1999) A role for ATR in the DNA damage-induced phosphorylation of p53. Genes Dev 13: 152-7 PubMed GONUTS page
  17. ↑ Matsuoka S et al. (2000) Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro. Proc Natl Acad Sci U S A 97: 10389-94 PubMed GONUTS page
  18. ↑ McKerlie M et al. (2012) ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance. Nucleic Acids Res 40: 3975-89 PubMed GONUTS page
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