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BLM and RNF8
Data Source:
BioGRID
(enzymatic study)
BLM
RNF8
Description
BLM RecQ like helicase
ring finger protein 8
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
Ubiquitin Ligase Complex
Chromosome, Telomeric Region
Nucleus
Nucleoplasm
Cytosol
Midbody
Site Of Double-strand Break
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
Chromatin Binding
Ubiquitin-protein Transferase Activity
Protein Binding
Zinc Ion Binding
Ubiquitin Protein Ligase Binding
Histone Binding
Identical Protein Binding
Protein Homodimerization Activity
Ubiquitin Binding
Ubiquitin Protein Ligase Activity
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
Double-strand Break Repair
Double-strand Break Repair Via Nonhomologous End Joining
Ubiquitin-dependent Protein Catabolic Process
Cellular Response To DNA Damage Stimulus
Cell Cycle
Spermatid Development
Response To Ionizing Radiation
Viral Process
Protein Ubiquitination
Histone H2A Ubiquitination
Histone H2B Ubiquitination
Negative Regulation Of Transcription Elongation From RNA Polymerase II Promoter
Spermatogenesis, Exchange Of Chromosomal Proteins
Interstrand Cross-link Repair
Histone Exchange
Isotype Switching
Positive Regulation Of DNA Repair
Cell Division
Protein Autoubiquitination
Protein K63-linked Ubiquitination
Histone H2A K63-linked Ubiquitination
Protein K48-linked Ubiquitination
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
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint
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
)
Acne (severe) (
24927181
)
Restless legs syndrome (
29029846
)
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
76 interacting genes:
AMOTL2
BLM
C2CD6
CALCOCO1
CCDC14
CCDC50
CCDC85B
CEP44
CEP85
CHD4
CHEK2
CLK2
CLK3
DNM2
DNTTIP2
EPN2
EPN3
EXOSC2
FAM9B
FSD2
GPRASP2
H2AC20
H2AX
H2BC21
H2BC3
H3-3B
HOMEZ
JMJD1C
KDM4A
KIF24
KRTAP10-1
KRTAP10-8
KRTAP9-2
KRTAP9-8
LMO4
MAD1L1
MAGED1
MAPK1
MDC1
MDM2
PCNA
PCYT1A
PGRMC2
PICK1
PNMA2
POLD4
PSMB1
RBFOX2
RXRA
RYBP
SCN3B
SEPTIN3
SH3GL3
STX11
SUMO2
SUMO3
TMEM79
TNIP1
TOMM20L
TRIM29
UBC
UBE2D1
UBE2D2
UBE2D3
UBE2E1
UBE2E2
UBE2E3
UBE2N
UBE2V2
UBE2W
VCP
WASL
YEATS4
ZBTB10
ZNF346
ZNF496
Entrez ID
641
9025
HPRD ID
05211
11521
Ensembl ID
ENSG00000197299
ENSG00000112130
Uniprot IDs
B7ZKN7
H0YNU5
P54132
O76064
PDB IDs
2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
5LUP
5MK5
5U6K
2CSW
2PIE
4AYC
4ORH
4WHV
Enriched GO Terms of Interacting Partners
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