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ATM and NBN
Data Source:
BioGRID
(affinity chromatography technology)
HPRD
(in vitro, in vivo)
ATM
NBN
Description
ATM serine/threonine kinase
nibrin
Image
GO Annotations
Cellular Component
Chromosome, Telomeric Region
Nucleus
Nucleoplasm
Nucleolus
Cytoplasm
Spindle
Cytoplasmic Vesicle
Intracellular Membrane-bounded Organelle
DNA Repair Complex
Chromosome, Telomeric Region
Nucleus
Nucleoplasm
Replication Fork
Nucleolus
Cytosol
PML Body
Mre11 Complex
Site Of Double-strand Break
Nuclear Inclusion Body
Molecular Function
DNA Binding
Protein Serine/threonine Kinase Activity
DNA-dependent Protein Kinase Activity
Protein Binding
ATP Binding
1-phosphatidylinositol-3-kinase Activity
Identical Protein Binding
Protein-containing Complex Binding
Protein N-terminus Binding
Protein Serine Kinase Activity
Protein Threonine Kinase Activity
Damaged DNA Binding
Protein Binding
Transcription Factor Binding
Protein N-terminus Binding
Biological Process
DNA Damage Checkpoint
Telomere Maintenance
Double-strand Break Repair Via Homologous Recombination
DNA Double-strand Break Processing
Ovarian Follicle Development
Response To Hypoxia
Somitogenesis
Pre-B Cell Allelic Exclusion
DNA Replication
Double-strand Break Repair Via Nonhomologous End Joining
Protein Phosphorylation
Cellular Response To DNA Damage Stimulus
DNA Damage Induced Protein Phosphorylation
DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Cell Cycle Arrest
Cell Cycle Arrest
Mitotic Spindle Assembly Checkpoint
Reciprocal Meiotic Recombination
Male Meiotic Nuclear Division
Female Meiotic Nuclear Division
Signal Transduction
Brain Development
Heart Development
Determination Of Adult Lifespan
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Post-embryonic Development
Response To Ionizing Radiation
Regulation Of Autophagy
Positive Regulation Of Gene Expression
Histone Phosphorylation
Peptidyl-serine Phosphorylation
Positive Regulation Of Cell Migration
Negative Regulation Of B Cell Proliferation
Regulation Of Telomere Maintenance Via Telomerase
Positive Regulation Of Telomere Maintenance Via Telomerase
Positive Regulation Of Histone Phosphorylation
V(D)J Recombination
Multicellular Organism Growth
Phosphatidylinositol-3-phosphate Biosynthetic Process
Peptidyl-serine Autophosphorylation
Lipoprotein Catabolic Process
Regulation Of Apoptotic Process
Positive Regulation Of Apoptotic Process
Positive Regulation Of DNA Damage Response, Signal Transduction By P53 Class Mediator
Positive Regulation Of Neuron Apoptotic Process
Meiotic Telomere Clustering
Positive Regulation Of Cell Adhesion
Positive Regulation Of Transcription By RNA Polymerase II
Protein Autophosphorylation
Thymus Development
Oocyte Development
Neuron Apoptotic Process
Regulation Of Telomerase Activity
Histone MRNA Catabolic Process
Cellular Response To Retinoic Acid
Cellular Response To Gamma Radiation
Cellular Response To X-ray
Cellular Response To Nitrosative Stress
Signal Transduction Involved In Mitotic G2 DNA Damage Checkpoint
Replicative Senescence
Establishment Of RNA Localization To Telomere
Establishment Of Protein-containing Complex Localization To Telomere
Regulation Of Cellular Response To Heat
Regulation Of Signal Transduction By P53 Class Mediator
Positive Regulation Of DNA Catabolic Process
Regulation Of Microglial Cell Activation
Negative Regulation Of TORC1 Signaling
Negative Regulation Of Telomere Capping
Positive Regulation Of Telomere Maintenance Via Telomere Lengthening
Positive Regulation Of Telomerase Catalytic Core Complex Assembly
Regulation Of Cellular Response To Gamma Radiation
DNA Damage Checkpoint
Telomere Maintenance
Double-strand Break Repair Via Homologous Recombination
DNA Double-strand Break Processing
Blastocyst Growth
DNA Replication
Double-strand Break Repair
Double-strand Break Repair Via Nonhomologous End Joining
Cell Cycle Arrest
Mitotic G2 DNA Damage Checkpoint
Cell Population Proliferation
Viral Process
Regulation Of DNA-dependent DNA Replication Initiation
DNA Damage Response, Signal Transduction By P53 Class Mediator
Telomeric 3' Overhang Formation
Positive Regulation Of Protein Autophosphorylation
Positive Regulation Of Telomere Maintenance
DNA Duplex Unwinding
Positive Regulation Of Kinase Activity
Signal Transduction In Response To DNA Damage
Isotype Switching
Neuromuscular Process Controlling Balance
Meiotic Cell Cycle
T-circle Formation
Telomere Maintenance Via Telomere Trimming
Intrinsic Apoptotic Signaling Pathway
Regulation Of Signal Transduction By P53 Class Mediator
Negative Regulation Of Telomere Capping
Pathways
DNA Damage/Telomere Stress Induced Senescence
Regulation of HSF1-mediated heat shock response
Autodegradation of the E3 ubiquitin ligase COP1
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 Regulates Transcription of Caspase Activators and Caspases
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Methylation
G2/M DNA damage checkpoint
Stabilization of p53
Meiotic recombination
Pexophagy
DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Meiotic recombination
Drugs
Caffeine
Diseases
Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
Chronic lymphocytic leukemia (CLL)
DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
GWAS
Alzheimer's disease (late onset) (
28714976
)
Cutaneous malignant melanoma (
32341527
)
Eosinophil counts (
32888494
27863252
)
Eosinophil percentage of white cells (
32888494
27863252
)
Gastric adenocarcinoma (histologically verified) (
26098866
)
Gastric cancer (
26098866
)
Leukocyte telomere length (
32109421
31171785
)
Lymphocyte counts (
32888494
)
Mean reticulocyte volume (
32888494
)
Melanoma (
21983787
28212542
)
Monocyte count (
32888494
)
Myeloproliferative neoplasms (
33057200
)
Nevus count or cutaneous melanoma (
32341527
30429480
)
Nonunion in individuals with fractures (
30680360
)
Prostate cancer (
29892016
)
Red blood cell count (
29403010
)
Refractive error (
32231278
)
Renal cell carcinoma (
28598434
)
Response to metformin in type 2 diabetes (glycemic) (
21186350
)
Rheumatoid arthritis (
30423114
24390342
)
Sum eosinophil basophil counts (
27863252
)
Uterine fibroids (
30194396
)
Lymphocyte counts (
32888494
)
Lymphocyte percentage of white cells (
32888494
)
Monocyte count (
32888494
)
Interacting Genes
98 interacting genes:
AATF
ABL1
ACTL6B
AP1B1
AP2B1
AP3B1
AP3B2
ATR
BCAS3
BCL10
BRCA1
BRCA2
CDC6
CDKN2C
CHD4
CHEK1
CHEK2
COPS5
CREB1
CRX
CSNK1D
CXXC5
DAXX
DCAF1
DCLRE1C
DDX1
DYRK2
E2F1
E4F1
EEF1E1
EIF3E
EIF4EBP1
ERRFI1
ESRRG
EXO1
FANCD2
FECH
FOXO3
H2AX
HIF1A
HSPA8
IL24
KAT5
KAT8
LIG4
MAP1S
MCM2
MCPH1
MDC1
MDM2
MDM4
MRE11
MT-ND4
MTA3
NBN
NR4A1
NREP
NSD3
OSGIN1
PARP1
PEX5
POLR2A
PPP2R5C
PRKDC
PTCH1
RAD17
RAD51
RAD9A
RANBP9
RASSF1
RBBP8
RHEB
RNF20
RNF40
RPA1
RPA2
SMC1A
SPSB1
STK11
TCL1A
TELO2
TERF1
TERF2
TFF1
TIPARP
TOP1
TOPBP1
TP53
TP53BP1
TRAF6
TREX1
TRIM29
UCHL3
WRN
XPA
XRCC5
ZEB1
ZNF821
35 interacting genes:
ATF2
ATM
ATR
BAP1
BRCA1
CASC3
CCNE1
CDK9
CHEK2
DCLRE1C
EP300
FANCD2
H2AX
H3-4
HIF1A
MDC1
MRE11
NAT2
NCL
PRKDC
RAD18
RAD50
RAD51
RECQL5
SIRT1
SNAI1
SUMO2
TERF1
TLK1
TREX1
UBE2D1
UBE2N
VRK1
XRCC4
XRCC5
Entrez ID
472
4683
HPRD ID
06347
04050
Ensembl ID
ENSG00000149311
ENSG00000104320
Uniprot IDs
A0A024R3C7
Q13315
A0A0C4DG07
O60934
PDB IDs
5NP0
5NP1
6HKA
6K9K
6K9L
5WQD
Enriched GO Terms of Interacting Partners
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