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BLM and MIB1
Data Source:
BioGRID
(enzymatic study)
BLM
MIB1
Description
BLM RecQ like helicase
MIB E3 ubiquitin protein ligase 1
Image
GO Annotations
Cellular Component
Nuclear Chromosome
Chromosome, Telomeric Region
Lateral Element
Nucleus
Nucleoplasm
Replication Fork
Chromosome
Nucleolus
Cytoplasm
Cytosol
Nuclear Matrix
PML Body
Protein-containing Complex
Cytoplasm
Centrosome
Cytosol
Plasma Membrane
Postsynaptic Density
Cytoplasmic Vesicle
Molecular Function
Four-way Junction DNA Binding
Y-form DNA Binding
Bubble DNA Binding
P53 Binding
DNA Binding
DNA Helicase Activity
Single-stranded DNA Binding
Helicase Activity
Protein Binding
ATP Binding
DNA-dependent ATPase Activity
Zinc Ion Binding
Four-way Junction Helicase Activity
ATPase Activity
Annealing Helicase Activity
Identical Protein Binding
Protein Homodimerization Activity
3'-5' DNA Helicase Activity
G-quadruplex DNA Binding
Forked DNA-dependent Helicase Activity
Telomeric D-loop Binding
Telomeric G-quadruplex DNA Binding
8-hydroxy-2'-deoxyguanosine DNA Binding
Ubiquitin-protein Transferase Activity
Protein Binding
Zinc Ion Binding
Biological Process
Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity
Telomere Maintenance
Double-strand Break Repair Via Homologous Recombination
DNA Double-strand Break Processing
DNA Strand Renaturation
DNA Replication
DNA Unwinding Involved In DNA Replication
DNA Repair
DNA Recombination
Cellular Response To DNA Damage Stimulus
Mitotic G2 DNA Damage Checkpoint
Response To X-ray
Replication Fork Processing
DNA Duplex Unwinding
G-quadruplex DNA Unwinding
Positive Regulation Of Transcription, DNA-templated
Negative Regulation Of DNA Recombination
Replication Fork Protection
Protein Complex Oligomerization
Protein Homooligomerization
Negative Regulation Of Cell Division
Telomeric D-loop Disassembly
Cellular Response To Ionizing Radiation
Cellular Response To Hydroxyurea
Cellular Response To Camptothecin
Regulation Of DNA-dependent DNA Replication
T-circle Formation
Regulation Of Signal Transduction By P53 Class Mediator
Blood Vessel Development
In Utero Embryonic Development
Somitogenesis
Neural Tube Formation
Heart Looping
Ubiquitin-dependent Protein Catabolic Process
Endocytosis
Notch Signaling Pathway
Protein Ubiquitination
Negative Regulation Of Neuron Differentiation
Positive Regulation Of Endocytosis
Pathways
Processive synthesis on the C-strand of the telomere
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
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
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
NOTCH3 Activation and Transmission of Signal to the Nucleus
Drugs
Diseases
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
Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
GWAS
Coronary artery disease (
32469254
)
Daytime sleep phenotypes (
27126917
)
Brain morphology (MOSTest) (
32665545
)
Mean spheric corpuscular volume (
32888494
)
Severe progression in rheumatoid arthritis (
29065906
)
Interacting Genes
38 interacting genes:
ATR
ATRX
BRIP1
CASP3
CHAF1A
CHEK1
DNA2
EXO1
FANCD2
FBXW7
FEN1
JUN
MCRS1
MIB1
MLH1
MX1
NEK11
PSMD3
RAD51
RAD51D
RNF8
RPA1
SMC1A
SPIDR
SUMO1
SUMO2
SUMO3
SYN1
TERF1
TERF2
TOP3A
TOPBP1
TP53
TP53BP1
TRIM49
UBE2I
UPF2
WRN
15 interacting genes:
AZI2
BLM
DAB2
DAPK1
EPB41L4A
GABARAP
JAG1
SNX5
UBE2D1
UBE2D2
UBE2D3
UBE2D4
UBE2N
UBE2U
UBE2W
Entrez ID
641
57534
HPRD ID
05211
06660
Ensembl ID
ENSG00000197299
ENSG00000101752
Uniprot IDs
B7ZKN7
H0YNU5
P54132
Q86YT6
PDB IDs
2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
5LUP
5MK5
5U6K
4TSE
4XI6
4XI7
4XIB
Enriched GO Terms of Interacting Partners
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