Reactome | ATM [nucleoplasm]

ATM [nucleoplasm]

Stable Identifier

R-HSA-69484

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

ATM serine-protein kinase, Serine-protein kinase ATM (EC 2.7.1.37) (Ataxia telangiectasia mutated) (A-T, mutated), Serine-protein kinase ATM , Ataxia telangiectasia mutated, A-T, mutated

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Gene expression (Transcription) (Homo sapiens)

- RNA Polymerase II Transcription (Homo sapiens)
  - Generic Transcription Pathway (Homo sapiens)
    - Transcriptional Regulation by TP53 (Homo sapiens)
      - TP53 Regulates Transcription of DNA Repair Genes (Homo sapiens)
        
        CDK12 stimulates expression of DNA repair genes (Homo sapiens)
        
        BRCA1, ATR, FANCD2, FANCI, ATM, MDC1, CHEK1, RAD51D [nucleoplasm] (Homo sapiens)
        
        ATM [nucleoplasm] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q13315 ATM

Gene Names

ATM

Chain

initiator methionine:1, chain:2-3056

Reference Genes

BioGPS Gene:472 ATM

COSMIC (genes):ATM ATM

CTD Gene:472 ATM

dbSNP Gene:472 ATM

ENSEMBL:ENSG00000149311 ATM

HGNC:795 ATM

KEGG Gene (Homo sapiens):472 ATM

Monarch:472 ATM

NCBI Gene:472 ATM

OMIM:607585 ATM

UCSC:Q13315 ATM

Reference Transcript

Other Identifiers

0006650286

0006650605

11720013_a_at

11720014_a_at

11741374_x_at

11745546_a_at

11751874_a_at

16730845

1863_s_at

2000_at

2001_g_at

208442_s_at

210858_x_at

212672_at

3002284

3347659

3347662

3347665

3347666

3347667

3347668

3347675

3347678

3347679

3347680

3347681

3347682

3347683

3347684

3347685

3347686

3347687

3347688

3347689

3347690

3347691

3347693

3347694

3347695

3347696

3347697

3347698

3347699

3347700

3347701

3347702

3347703

3347704

3347707

3347708

3347709

3347710

3347712

3347713

3347714

3347715

3347716

3347719

3347721

3347722

3347723

3347724

3347725

3347727

3347729

3347730

3347731

3347734

3347736

3347738

3347739

3347740

3347741

3347742

3347743

3347744

3347745

3347747

3347748

3347750

3347751

3347752

3347754

3347757

3347758

3347759

3347763

3347764

3347766

3347769

3347770

3347772

3347773

3347774

3347775

3347776

3347777

3347778

472

7943620

91853_at

A_14_P117132

A_14_P119595

A_14_P131864

A_14_P134778

A_23_P35916

A_23_P374812

A_33_P3589722

GE80884

GE87169

GO:0000003

GO:0000077

GO:0000166

GO:0000228

GO:0000278

GO:0000723

GO:0000724

GO:0000729

GO:0000781

GO:0000784

GO:0001541

GO:0001666

GO:0001756

GO:0002331

GO:0002376

GO:0002377

GO:0003674

GO:0003677

GO:0004672

GO:0004674

GO:0004677

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005730

GO:0005737

GO:0005819

GO:0005856

GO:0006259

GO:0006260

GO:0006281

GO:0006303

GO:0006464

GO:0006468

GO:0006629

GO:0006914

GO:0006915

GO:0006950

GO:0006974

GO:0006975

GO:0006977

GO:0007049

GO:0007050

GO:0007059

GO:0007094

GO:0007131

GO:0007140

GO:0007143

GO:0007155

GO:0007165

GO:0007292

GO:0007420

GO:0007507

GO:0007568

GO:0008150

GO:0008219

GO:0008283

GO:0008340

GO:0008585

GO:0008630

GO:0009056

GO:0009058

GO:0009790

GO:0009791

GO:0010212

GO:0010506

GO:0010628

GO:0016301

GO:0016303

GO:0016310

GO:0016572

GO:0016740

GO:0018105

GO:0022607

GO:0022618

GO:0030154

GO:0030335

GO:0030889

GO:0031410

GO:0032210

GO:0032212

GO:0032991

GO:0033129

GO:0033151

GO:0034641

GO:0034655

GO:0035264

GO:0036092

GO:0036289

GO:0040007

GO:0040011

GO:0042159

GO:0042592

GO:0042802

GO:0042981

GO:0043065

GO:0043167

GO:0043226

GO:0043231

GO:0043517

GO:0043525

GO:0044877

GO:0045141

GO:0045785

GO:0045944

GO:0046777

GO:0047485

GO:0048538

GO:0048599

GO:0048646

GO:0048856

GO:0048870

GO:0051276

GO:0051402

GO:0051726

GO:0065003

GO:0070192

GO:0071044

GO:0071300

GO:0071480

GO:0071481

GO:0071500

GO:0072434

GO:0090399

GO:0097694

GO:0097695

GO:0140014

GO:1900034

GO:1901216

GO:1901796

GO:1903626

GO:1903978

GO:1904262

GO:1904354

GO:1904358

GO:1904884

GO:1905843

GO:1990391

GO:2001022

Hs.194382.2.S1_3p_at

ILMN_1713630

ILMN_1779214

ILMN_2370825

PH_hs_0026560

TC11000980.hg

TC11002857.hg

U33841_at

U67092_s_at

X91196_s_at

g4502266_3p_a_at

Participant Of

hasMember

ATM/ATR kinase [nucleoplasm]

input

Formation of meiotic single-stranded DNA invasion complex

hasComponent

hasCandidate

BRCA1, ATR, FANCD2, FANCI, ATM, MDC1, CHEK1, RAD51D [nucleoplasm]

Other forms of this molecule

Ac-K3016-ATM [nucleoplasm]

p-S1981,Ac-K3016-ATM [nucleoplasm]

ATM [peroxisomal matrix]

ATM [cytosol]

Inferred To

TEL1 [nucleoplasm] (Saccharomyces cerevisiae)

tel1 [nucleoplasm] (Schizosaccharomyces pombe)

Atm [nucleoplasm] (Mus musculus)

Atm [nucleoplasm] (Rattus norvegicus)

atm-1 [nucleoplasm] (Caenorhabditis elegans)

tefu [nucleoplasm] (Drosophila melanogaster)

atm [nucleoplasm] (Danio rerio)

ATM [nucleoplasm] (Bos taurus)

ATM [nucleoplasm] (Canis familiaris)

ATM [nucleoplasm] (Sus scrofa)

ATM [nucleoplasm] (Xenopus tropicalis)

Cross References

RefSeq

XP_006718906.1, XP_005271619.2, XP_016873278.1, XP_011541142.1, XP_016873279.1, XP_005271618.2, XP_006718908.1, NP_000042.3

OpenTargets

ENSG00000149311

ZINC - Substances

ATM_HUMAN

ZINC - Biogenic

ATM_HUMAN

ZINC target

Q13315

PRO

Q13315

PDB

6HKA, 5NP0, 5NP1, 6K9K, 6K9L

ZINC - Metabolites

ATM_HUMAN

IntEnz

2.7.11.1

GeneCards

Q13315

HPA

ENSG00000149311-ATM

Ensembl

ENSG00000149311, ENST00000452508, ENSP00000278616, ENST00000278616, ENSP00000388058

ZINC - Predictions - Purchasable

ATM_HUMAN

Orphanet

15962

HMDB Protein

HMDBP01231

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P00519 ABL1	5	p-Y226,Y393-ABL1 [nucleoplasm] (R-HSA-8985251) ABL1 [cytosol] (R-HSA-375987) p-S456-ABL1 [nucleoplasm] (R-HSA-5686576) ABL1 [nucleoplasm] (R-HSA-5686579) p-Y226,Y393-ABL1 [cytosol] (R-HSA-8942610)	0.704	4
UniProt:Q9Y4R8 TELO2			0.677	4
UniProt:P46531 NOTCH1	60	NOTCH1 I1680N S2 cleavage fragment [extracellular region] (R-HSA-2730744) NOTCH1 L1678P S2 cleavage fragment [extracellular region] (R-HSA-2730745) NOTCH1 I1718T S2 cleavage fragment [extracellular region] (R-HSA-2730757) NOTCH1 A1701P S2 cleavage fragment [plasma membrane] (R-HSA-2730742) NOTCH1 V1676D S2 cleavage fragment [extracellular region] (R-HSA-2730755) NOTCH1 I1680N Transmembrane Fragment [plasma membrane] (R-HSA-2684869) NOTCH1 I1718T Transmembrane Fragment [plasma membrane] (R-HSA-2684881) NOTCH1 I1616T Extracellular Fragment [extracellular region] (R-HSA-2684866) NOTCH1 L1596H Extracellular Fragment [extracellular region] (R-HSA-2684853) NOTCH1 L1678P Transmembrane Fragment [plasma membrane] (R-HSA-1485591) NOTCH1 A1701P Transmembrane Fragment [plasma membrane] (R-HSA-1485585) NOTCH1 I1616N Extracellular Fragment [extracellular region] (R-HSA-2684862) NOTCH1 L1593P Extracellular Fragment [extracellular region] (R-HSA-1485584) NOTCH1 R1598P Extracellular Fragment [extracellular region] (R-HSA-1485592) NOTCH1 V1576E Extracellular Fragment [extracellular region] (R-HSA-2684852) NOTCH1 V1676D Transmembrane Fragment [plasma membrane] (R-HSA-2684874) NOTCH1 F1592S Extracellular Fragment [extracellular region] (R-HSA-2684847) NOTCH1 L1574Q Extracellular Fragment [extracellular region] (R-HSA-2691203) p-NICD1 Q2440* [nucleoplasm] (R-HSA-2902207) p-NICD1 Q2395* [nucleoplasm] (R-HSA-2902205) p-NICD1 P2514Rfs4 [nucleoplasm] (R-HSA-2159809) p-NICD1 P2474Afs4 [nucleoplasm] (R-HSA-2902204) NOTCH1 L1574P Extracellular Fragment [extracellular region] (R-HSA-1485582) NOTCH1 L1600P Extracellular Fragment [extracellular region] (R-HSA-2681764) NEXT1 P2474Afs4 [plasma membrane] (R-HSA-2902194) NEXT1 Q2395 [plasma membrane] (R-HSA-2902192) NEXT1 Q2440* [plasma membrane] (R-HSA-2902196) NEXT1 P2514Rfs4 [plasma membrane] (R-HSA-2768989) NICD1 Q2395 [cytosol] (R-HSA-2902195) NICD1 P2514Rfs4 [cytosol] (R-HSA-2768996) NICD1 P2474Afs4 [cytosol] (R-HSA-2902193) NICD1 Q2440* [cytosol] (R-HSA-2902191) NICD1 P2514Rfs4 [nucleoplasm] (R-HSA-2769013) NICD1 P2474Afs4 [nucleoplasm] (R-HSA-2902208) NICD1 Q2395* [nucleoplasm] (R-HSA-2902201) NICD1 Q2440* [nucleoplasm] (R-HSA-2902200) NOTCH1 P2514Rfs4 Transmembrane Fragment [plasma membrane] (R-HSA-2768982) NOTCH1 Q2395 Transmembrane Fragment [plasma membrane] (R-HSA-1485596) NOTCH1 Q2440* Transmembrane Fragment [plasma membrane] (R-HSA-1485602) NOTCH1 P2474Afs*4 Transmembrane Fragment [plasma membrane] (R-HSA-2894873) NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region] (R-HSA-2220929) p-NICD1 [nucleoplasm] (R-HSA-1604444) Glc,GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911426) Glc,Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911415) Glc,Sia-Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911503) FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [Golgi membrane] (R-HSA-1911511) Pre-NOTCH1 [endoplasmic reticulum membrane] (R-HSA-157024) 17xFucT-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] (R-HSA-1467396) 19xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] (R-HSA-1467425) 17xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [Golgi membrane] (R-HSA-1472872) NOTCH1(1665-2555) [Golgi membrane] (R-HSA-157092) 17xFucT-14xGlcS-2xFucS-NOTCH1(19-1664) [Golgi membrane] (R-HSA-1983679) FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [plasma membrane] (R-HSA-1911512) NOTCH1(1665-2555) [plasma membrane] (R-HSA-157239) 19xFucT-16xGlcS-2xFucS-NOTCH1(19-1664) [extracellular region] (R-HSA-1983670) NOTCH1(1665-1720) [extracellular region] (R-HSA-157654) NOTCH1(1721-1753) [plasma membrane] (R-HSA-157656) NEXT1 [plasma membrane] (R-HSA-157200) NICD1 [cytosol] (R-HSA-157634) NICD1 [nucleoplasm] (R-HSA-157939)	0.659	8
UniProt:P54274-2 TERF1			0.65	5
UniProt:Q14676 MDC1	6	SUMO2,3-K1840-MDC1 [nucleoplasm] (R-HSA-4570473) SUMO1-K1840-MDC1 [nucleoplasm] (R-HSA-4570546) K48PolyUb,SUMO2-K1840,p-5T-MDC1 [nucleoplasm] (R-HSA-5684074) SUMO2-K1840,p-5T-MDC1 [nucleoplasm] (R-HSA-5684061) MDC1 [nucleoplasm] (R-HSA-75231) p-5T-MDC1 [nucleoplasm] (R-HSA-75236)	0.623	3
UniProt:O43156 TTI1			0.612	5
UniProt:P54274 TERF1	1	TERF1 [nucleoplasm] (R-HSA-164618)	0.609	3
UniProt:Q9BQ15 NABP2	1	NABP2 [nucleoplasm] (R-HSA-6814916)	0.602	4
UniProt:Q12888 TP53BP1	3	TP53BP1 [nucleoplasm] (R-HSA-61175) SUMO1-K-TP53BP1 [nucleoplasm] (R-HSA-2997591) p-S25,S1778-TP53BP1 [nucleoplasm] (R-HSA-5683418)	0.59	2
UniProt:O43313 ATMIN			0.556	5
UniProt:P27958-PRO_0000037577			0.556	3
UniProt:P62508-3 ESRRG			0.556	3
UniProt:Q9NY61 AATF	1	AATF [cytosol] (R-HSA-205071)	0.544	3
UniProt:Q15554 TERF2	2	p-S365-TERF2 [nucleoplasm] (R-HSA-9686530) TERF2 [nucleoplasm] (R-HSA-174895)	0.544	2
UniProt:Q5XUX0 FBXO31	1	FBXO31 [cytosol] (R-HSA-8850911)	0.544	2
UniProt:Q9Y6K9 IKBKG	12	IKBKG [nucleoplasm] (R-HSA-4755413) SUMO1-K277,K309-IKBKG [nucleoplasm] (R-HSA-4755449) IKBKG D406V [cytosol] (R-HSA-5262943) IKBKG L153R [cytosol] (R-HSA-5262879) IKBKG E391* [cytosol] (R-HSA-5262924) IKBKG C417R [cytosol] (R-HSA-5262858) IKBKG R173G [cytosol] (R-HSA-5262966) IKBKG R175P [cytosol] (R-HSA-5262916) IKBKG 420Wro447 [cytosol] (R-HSA-5262978) Ub-285-IKBKG [cytosol] (R-HSA-741397) K63polyUb-NEMO [cytosol] (R-HSA-202530) IKBKG [cytosol] (R-HSA-168108)	0.524	4
UniProt:P11245 NAT2	2	NAT2 [cytosol] (R-HSA-158692) AcC-NAT2 [cytosol] (R-HSA-158833)	0.508	2
UniProt:Q9BZ95 NSD3	1	WHSC1L1 [nucleoplasm] (R-HSA-1183230)	0.508	3
UniProt:Q13007 IL24	1	IL24 [extracellular region] (R-HSA-448438)	0.508	2
UniProt:Q7LG56 RRM2B	1	RRM2B [cytosol] (R-HSA-111792)	0.499	3
UniProt:O60934 NBN	3	NBN [nucleoplasm] (R-HSA-75163) NBN [cytosol] (R-HSA-5684005) p-S343-NBN [nucleoplasm] (R-HSA-75237)	0.499	2
UniProt:P16104 H2AX	7	Me2sR4-H2AFX [nucleoplasm] (R-HSA-5218317) H2AFX [extracellular region] (R-HSA-977583) K63PolyUb-K14,K16,p-S140-H2AFX [nucleoplasm] (R-HSA-5682847) p-S140-H2AFX [nucleoplasm] (R-HSA-75170) p-S140,Y143-H2AFX [nucleoplasm] (R-HSA-5683953) p-Y143-H2AFX [nucleoplasm] (R-HSA-5683942) H2AFX [nucleoplasm] (R-HSA-56151)	0.491	2
IntAct:EBI-9086707 NS3			0.463	2
IntAct:EBI-6863782 NS3			0.463	6
UniProt:Q6PJG6 BRAT1			0.463	3

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