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HUMAN:ATM

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) ATM
Protein Name(s) Serine-protein kinase ATM

Ataxia telangiectasia mutated A-T mutated

External Links
UniProt Q13315
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
KF455499
CH471065
X91196
U67092
AY220758
U26455
BC137169
CCDS CCDS31669.1
PIR A43100
RefSeq NP_000042.3
XP_005271618.2
XP_005271619.2
XP_006718906.1
XP_006718908.1
UniGene Hs.367437
ProteinModelPortal Q13315
SMR Q13315
BioGrid 106962
DIP DIP-182N
IntAct Q13315
MINT MINT-194471
STRING 9606.ENSP00000278616
BindingDB Q13315
ChEMBL CHEMBL3797
DrugBank DB00201
GuidetoPHARMACOLOGY 1934
PhosphoSite Q13315
DMDM 317373479
MaxQB Q13315
PaxDb Q13315
PRIDE Q13315
DNASU 472
Ensembl ENST00000278616
ENST00000452508
GeneID 472
KEGG hsa:472
UCSC uc001pkb.1
CTD 472
GeneCards GC11P108093
GeneReviews ATM
H-InvDB HIX0010089
HIX0201637
HGNC HGNC:795
HPA CAB000102
MIM 208900
607585
neXtProt NX_Q13315
Orphanet 100
370109
67038
370114
52416
PharmGKB PA61
eggNOG COG5032
GeneTree ENSGT00670000098061
HOVERGEN HBG004304
InParanoid Q13315
KO K04728
PhylomeDB Q13315
TreeFam TF101182
Reactome REACT_1614
REACT_169185
REACT_18265
REACT_1924
REACT_200780
REACT_204
REACT_20549
REACT_27271
REACT_309
REACT_897
REACT_97
SignaLink Q13315
ChiTaRS ATM
GeneWiki Ataxia_telangiectasia_mutated
GenomeRNAi 472
NextBio 1949
PRO PR:Q13315
Proteomes UP000005640
Bgee Q13315
CleanEx HS_ATM
ExpressionAtlas Q13315
Genevestigator Q13315
GO GO:0016023
GO:0005654
GO:0005819
GO:0016303
GO:0005524
GO:0003677
GO:0004677
GO:0035174
GO:0032403
GO:0046983
GO:0047485
GO:0004674
GO:0007420
GO:0007050
GO:0006974
GO:0071480
GO:0006975
GO:0006977
GO:0006281
GO:0006302
GO:0000724
GO:0007507
GO:0071044
GO:0008630
GO:0042159
GO:0007094
GO:0030889
GO:0051402
GO:0048599
GO:0018105
GO:0036092
GO:0043065
GO:0043517
GO:0043525
GO:0002331
GO:0046777
GO:0006468
GO:0007131
GO:0090399
GO:0001666
GO:0010212
GO:0007165
GO:0072434
GO:0001756
GO:0000723
Gene3D 1.10.1070.11
InterPro IPR016024
IPR015519
IPR003152
IPR011009
IPR000403
IPR018936
IPR003151
IPR014009
IPR021668
PANTHER PTHR11139:SF66
Pfam PF02259
PF02260
PF00454
PF11640
SMART SM00146
SUPFAM SSF48371
SSF56112
PROSITE PS51189
PS51190
PS00915
PS00916
PS50290

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0045860

positive regulation of protein kinase activity

PMID:10973490[1]

ECO:0000315

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
CACAO 3562

GO:0004674

protein serine/threonine kinase activity

PMID:22266654[2]

ECO:0000314

F

ATM phosphorylates TRF1 at serine367: Figure 1.

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:30612738[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0071300

cellular response to retinoic acid

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q62388

P

Seeded From UniProt

complete

GO:0016303

1-phosphatidylinositol-3-kinase activity

PMID:25625042[4]

ECO:0000314

F

complete
CACAO 10707

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q62388

P

  • regulates_expression_of:(ENSEMBL:ENSG00000140836)
  • part_of:(GO:0071300)|regulates_expression_of(ENSEMBL:ENSG00000113721)|regulates_expression_of(ENSEMBL:ENSG00000077943)|regulates_expression_of(ENSEMBL:ENSG00000168542)

Seeded From UniProt

complete

involved_in

GO:0045785

positive regulation of cell adhesion

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q62388

P

Seeded From UniProt

complete

involved_in

GO:0030335

positive regulation of cell migration

PMID:28344092[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:28344092[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

regulates_expression_of:(ENSEMBL:ENSG00000101412)

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:27829214[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:26323318[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0071481

cellular response to X-ray

PMID:26323318[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0018105

peptidyl-serine phosphorylation

PMID:26323318[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:26323318[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006468

protein phosphorylation

PMID:17694070[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1904358

positive regulation of telomere maintenance via telomere lengthening

PMID:17694070[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1904354

negative regulation of telomere capping

PMID:17694070[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_regulation_target:(UniProtKB:P54274)

Seeded From UniProt

complete

involved_in

GO:0097695

establishment of protein-containing complex localization to telomere

PMID:26586433[9]

ECO:0000305

curator inference used in manual assertion

GO:0097694

P

transports_or_maintains_localization_of:(ComplexPortal:CPX-17)

Seeded From UniProt

complete

involved_in

GO:1904884

positive regulation of telomerase catalytic core complex assembly

PMID:26586433[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032210

regulation of telomere maintenance via telomerase

PMID:26586433[9]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q9NUX5

P

Seeded From UniProt

complete

colocalizes_with

GO:0000784

nuclear chromosome, telomeric region

PMID:26586433[9]

ECO:0000305

curator inference used in manual assertion

GO:0097694

C

Seeded From UniProt

complete

involved_in

GO:0097694

establishment of RNA localization to telomere

PMID:26586433[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_at:(GO:0000781)

Seeded From UniProt

complete

NOT|involved_in

GO:0051972

regulation of telomerase activity

PMID:26586427[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1904358

positive regulation of telomere maintenance via telomere lengthening

PMID:26586427[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032212

positive regulation of telomere maintenance via telomerase

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q62388

P

Seeded From UniProt

complete

involved_in

GO:1904262

negative regulation of TORC1 signaling

PMID:23878245[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

part_of:(GO:0071500)

Seeded From UniProt

complete

involved_in

GO:0010506

regulation of autophagy

PMID:23878245[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

part_of:(GO:0071500)

Seeded From UniProt

complete

involved_in

GO:0071500

cellular response to nitrosative stress

PMID:23878245[11]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071480

cellular response to gamma radiation

PMID:16213212[12]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:16213212[12]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046777

protein autophosphorylation

PMID:27664052[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006975

DNA damage induced protein phosphorylation

PMID:27664052[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0090399

replicative senescence

PMID:15149599[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0072434

signal transduction involved in mitotic G2 DNA damage checkpoint

PMID:15149599[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071480

cellular response to gamma radiation

PMID:9925639[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0046983

protein dimerization activity

PMID:15790808[16]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0046777

protein autophosphorylation

PMID:15790808[16]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046777

protein autophosphorylation

PMID:9733515[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0043517

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

PMID:9733515[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0044877

protein-containing complex binding

PMID:15790808[16]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0018105

peptidyl-serine phosphorylation

PMID:9733515[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

PMID:9733515[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007050

cell cycle arrest

PMID:15149599[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006975

DNA damage induced protein phosphorylation

PMID:9733515[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:15790808[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004677

DNA-dependent protein kinase activity

PMID:15790808[16]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:9733515[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:15149599[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0071044

histone mRNA catabolic process

PMID:16086026[18]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0047485

protein N-terminus binding

PMID:11375976[19]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0043065

positive regulation of apoptotic process

PMID:17875758[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030889

negative regulation of B cell proliferation

PMID:17875758[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0016303

1-phosphatidylinositol-3-kinase activity

PMID:11375976[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

PMID:11375976[19]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007094

mitotic spindle assembly checkpoint

PMID:11943150[21]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:17875758[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006468

protein phosphorylation

PMID:15916964[22]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:20096447[23]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:11375976[19]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0002331

pre-B cell allelic exclusion

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q62388

P

Seeded From UniProt

complete

involved_in

GO:1904262

negative regulation of TORC1 signaling

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:107202
PANTHER:PTN001673294
UniProtKB:Q13315

P

Seeded From UniProt

complete

involved_in

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:107202
PANTHER:PTN001673294
ZFIN:ZDB-GENE-040809-1

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:107202
PANTHER:PTN001673294
RGD:1593265
SGD:S000000184
UniProtKB:Q13315

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0045035
FB:FBgn0053554
MGI:MGI:104779
MGI:MGI:1928394
PANTHER:PTN000124197
RGD:1593265
RGD:68371
SGD:S000000340
SGD:S000001141
SGD:S000003827
UniProtKB:P78527
UniProtKB:Q13315
UniProtKB:Q96Q15
UniProtKB:Q9FR53
UniProtKB:Q9Y4A5
WB:WBGene00000226
WB:WBGene00007028

C

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001673294
PomBase:SPCC23B6.03c
SGD:S000000184
UniProtKB:Q13315

F

Seeded From UniProt

complete

involved_in

GO:0000723

telomere maintenance

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0045035
PANTHER:PTN001673294
PomBase:SPCC23B6.03c
SGD:S000000184

P

Seeded From UniProt

complete

involved_in

GO:0000077

DNA damage checkpoint

PMID:21873635[24]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:107202
PANTHER:PTN001673294
ZFIN:ZDB-GENE-040809-1

P

Seeded From UniProt

complete

part_of

GO:1990391

DNA repair complex

PMID:24217620[25]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0036289

peptidyl-serine autophosphorylation

PMID:24550317[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:24550317[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0036092

phosphatidylinositol-3-phosphate biosynthetic process

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0016303

P

Seeded From UniProt

complete

involved_in

GO:2001022

positive regulation of response to DNA damage stimulus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:1905843

regulation of cellular response to gamma radiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:1903978

regulation of microglial cell activation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:1903626

positive regulation of DNA catabolic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:1901216

positive regulation of neuron death

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:0051726

regulation of cell cycle

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:0043525

positive regulation of neuron apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:0033129

positive regulation of histone phosphorylation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:0006915

apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

C

Seeded From UniProt

complete

involved_in

GO:0001666

response to hypoxia

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D4ACL8
ensembl:ENSRNOP00000045529

P

Seeded From UniProt

complete

involved_in

GO:1904262

negative regulation of TORC1 signaling

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0071300

cellular response to retinoic acid

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0070192

chromosome organization involved in meiotic cell cycle

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0051402

neuron apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0048599

oocyte development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0048538

thymus development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0045785

positive regulation of cell adhesion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0045141

meiotic telomere clustering

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0043525

positive regulation of neuron apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0042159

lipoprotein catabolic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0035264

multicellular organism growth

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0033151

V(D)J recombination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0032212

positive regulation of telomere maintenance via telomerase

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0010506

regulation of autophagy

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0009791

post-embryonic development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0008585

female gonad development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0008340

determination of adult lifespan

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0007507

heart development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0007420

brain development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0007292

female gamete generation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0007143

female meiotic nuclear division

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0007140

male meiotic nuclear division

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0006468

protein phosphorylation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

part_of

GO:0005819

spindle

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

C

Seeded From UniProt

complete

enables

GO:0004672

protein kinase activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

F

Seeded From UniProt

complete

involved_in

GO:0002377

immunoglobulin production

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0002376

immune system process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0002331

pre-B cell allelic exclusion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0001756

somitogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0001541

ovarian follicle development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0000077

DNA damage checkpoint

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62388
ensembl:ENSMUSP00000156344

P

Seeded From UniProt

complete

involved_in

GO:0000077

DNA damage checkpoint

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

involved_in

GO:0000723

telomere maintenance

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519
InterPro:IPR021668

F

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

enables

GO:0016301

kinase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR018936
InterPro:IPR036940

F

Seeded From UniProt

complete

involved_in

GO:0016572

histone phosphorylation

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

involved_in

GO:0090399

replicative senescence

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015519

P

Seeded From UniProt

complete

involved_in

GO:0007165

signal transduction

PMID:7792600[27]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007131

reciprocal meiotic recombination

PMID:7792600[27]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

Reactome:R-HSA-6804955
Reactome:R-HSA-6804276
Reactome:R-HSA-6800490
Reactome:R-HSA-6799097
Reactome:R-HSA-6798372
Reactome:R-HSA-5693609
Reactome:R-HSA-5693598
Reactome:R-HSA-5693551
Reactome:R-HSA-5693549
Reactome:R-HSA-5693536
Reactome:R-HSA-5686704
Reactome:R-HSA-5686578
Reactome:R-HSA-5684140
Reactome:R-HSA-5683964
Reactome:R-HSA-5683425
Reactome:R-HSA-5682983
Reactome:R-HSA-5682598
Reactome:R-HSA-349455
Reactome:R-HSA-349444
Reactome:R-HSA-69891

ECO:0000304

author statement supported by traceable reference used in manual assertion




















F

Seeded From UniProt

complete

involved_in

GO:0000729

DNA double-strand break processing

Reactome:R-HSA-5693608

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901796

regulation of signal transduction by p53 class mediator

Reactome:R-HSA-5633007

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1900034

regulation of cellular response to heat

Reactome:R-HSA-3371453

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0042981

regulation of apoptotic process

Reactome:R-HSA-5633008

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006977

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

Reactome:R-HSA-69563

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

Reactome:R-HSA-5693571

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006260

DNA replication

Reactome:R-HSA-5684887
Reactome:R-HSA-5684875

ECO:0000304

author statement supported by traceable reference used in manual assertion


P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-69891
Reactome:R-HSA-6804955
Reactome:R-HSA-6804276
Reactome:R-HSA-6800490
Reactome:R-HSA-6799332
Reactome:R-HSA-6799097
Reactome:R-HSA-6798372
Reactome:R-HSA-6792712
Reactome:R-HSA-5693620
Reactome:R-HSA-5693612
Reactome:R-HSA-5693609
Reactome:R-HSA-5693608
Reactome:R-HSA-5693602
Reactome:R-HSA-5693599
Reactome:R-HSA-5693598
Reactome:R-HSA-5693593
Reactome:R-HSA-5693589
Reactome:R-HSA-5693584
Reactome:R-HSA-5693583
Reactome:R-HSA-5693580
Reactome:R-HSA-5693566
Reactome:R-HSA-5693564
Reactome:R-HSA-5693561
Reactome:R-HSA-5693551
Reactome:R-HSA-5693549
Reactome:R-HSA-5693542
Reactome:R-HSA-5693540
Reactome:R-HSA-5693539
Reactome:R-HSA-5693536
Reactome:R-HSA-5686900
Reactome:R-HSA-5686704
Reactome:R-HSA-5686685
Reactome:R-HSA-5686657
Reactome:R-HSA-5686642
Reactome:R-HSA-5686578
Reactome:R-HSA-5686483
Reactome:R-HSA-5686469
Reactome:R-HSA-5686440
Reactome:R-HSA-5686410
Reactome:R-HSA-5685994
Reactome:R-HSA-5685985
Reactome:R-HSA-5685838
Reactome:R-HSA-5685341
Reactome:R-HSA-5685156
Reactome:R-HSA-5685011
Reactome:R-HSA-5684887
Reactome:R-HSA-5684882
Reactome:R-HSA-5684875
Reactome:R-HSA-5684140
Reactome:R-HSA-5684108
Reactome:R-HSA-5684096
Reactome:R-HSA-5684081
Reactome:R-HSA-5684071
Reactome:R-HSA-5684052
Reactome:R-HSA-5683986
Reactome:R-HSA-5683967
Reactome:R-HSA-5683964
Reactome:R-HSA-5683801
Reactome:R-HSA-5683735
Reactome:R-HSA-5683425
Reactome:R-HSA-5683405
Reactome:R-HSA-5683385
Reactome:R-HSA-5683384
Reactome:R-HSA-5683077
Reactome:R-HSA-5682992
Reactome:R-HSA-5682983
Reactome:R-HSA-5682967
Reactome:R-HSA-5682965
Reactome:R-HSA-5682863
Reactome:R-HSA-5682858
Reactome:R-HSA-5682629
Reactome:R-HSA-5682607
Reactome:R-HSA-5682598
Reactome:R-HSA-5682588
Reactome:R-HSA-5682586
Reactome:R-HSA-5682044
Reactome:R-HSA-5682026
Reactome:R-HSA-5682018
Reactome:R-HSA-349455
Reactome:R-HSA-349444
Reactome:R-HSA-3371567

ECO:0000304

author statement supported by traceable reference used in manual assertion

















































































C

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

enables

GO:0016301

kinase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0418

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

enables

GO:0004674

protein serine/threonine kinase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0723

F

Seeded From UniProt

complete

part_of

GO:0031410

cytoplasmic vesicle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0968

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

involved_in

GO:0016310

phosphorylation

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0418

P

Seeded From UniProt

complete

involved_in

GO:0007049

cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0131

P

Seeded From UniProt

complete

Notes

References

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

  1. 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
  2. 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
  3. Jachimowicz, RD et al. (2019) UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors. Cell 176 505-519.e22 PubMed GONUTS page
  4. Mangone, FR et al. (2015) ATM gene mutations in sporadic breast cancer patients from Brazil. Springerplus 4 23 PubMed GONUTS page
  5. 5.0 5.1 Chen, S et al. (2017) The over expression of long non-coding RNA ANRIL promotes epithelial-mesenchymal transition by activating the ATM-E2F1 signaling pathway in pancreatic cancer: An in vivo and in vitro study. Int. J. Biol. Macromol. 102 718-728 PubMed GONUTS page
  6. Chen, H et al. (2016) PICT-1 is a key nucleolar sensor in DNA damage response signaling that regulates apoptosis through the RPL11-MDM2-p53 pathway. Oncotarget 7 83241-83257 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 Parplys, AC et al. (2015) NUCKS1 is a novel RAD51AP1 paralog important for homologous recombination and genome stability. Nucleic Acids Res. 43 9817-34 PubMed GONUTS page
  8. 8.0 8.1 8.2 Wu, Y et al. (2007) MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control. Nat. Struct. Mol. Biol. 14 832-40 PubMed GONUTS page
  9. 9.0 9.1 9.2 9.3 9.4 Tong, AS et al. (2015) ATM and ATR Signaling Regulate the Recruitment of Human Telomerase to Telomeres. Cell Rep 13 1633-46 PubMed GONUTS page
  10. 10.0 10.1 Lee, SS et al. (2015) ATM Kinase Is Required for Telomere Elongation in Mouse and Human Cells. Cell Rep 13 1623-32 PubMed GONUTS page
  11. 11.0 11.1 11.2 Tripathi, DN et al. (2013) Reactive nitrogen species regulate autophagy through ATM-AMPK-TSC2-mediated suppression of mTORC1. Proc. Natl. Acad. Sci. U.S.A. 110 E2950-7 PubMed GONUTS page
  12. 12.0 12.1 Takagi, M et al. (2005) Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin. Cell 123 49-63 PubMed GONUTS page
  13. 13.0 13.1 Carranza, D et al. (2017) Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. Neuromolecular Med. 19 161-174 PubMed GONUTS page
  14. 14.0 14.1 14.2 14.3 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
  15. 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
  16. 16.0 16.1 16.2 16.3 16.4 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
  17. 17.0 17.1 17.2 17.3 17.4 17.5 Canman, CE et al. (1998) Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 281 1677-9 PubMed GONUTS page
  18. 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
  19. 19.0 19.1 19.2 19.3 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
  20. 20.0 20.1 20.2 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
  21. 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
  22. Bhoumik, A et al. (2005) ATM-dependent phosphorylation of ATF2 is required for the DNA damage response. Mol. Cell 18 577-87 PubMed GONUTS page
  23. Yuan, J et al. (2010) USP10 regulates p53 localization and stability by deubiquitinating p53. Cell 140 384-96 PubMed GONUTS page
  24. 24.0 24.1 24.2 24.3 24.4 24.5 24.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  25. Mosammaparast, N et al. (2013) The histone demethylase LSD1/KDM1A promotes the DNA damage response. J. Cell Biol. 203 457-70 PubMed GONUTS page
  26. 26.0 26.1 Khoury-Haddad, H et al. (2014) PARP1-dependent recruitment of KDM4D histone demethylase to DNA damage sites promotes double-strand break repair. Proc. Natl. Acad. Sci. U.S.A. 111 E728-37 PubMed GONUTS page
  27. 27.0 27.1 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