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MLH1 and BLM
Data Source:
BioGRID
(two hybrid, unspecified method, affinity chromatography technology, affinity chromatography technology)
HPRD
(in vivo, in vitro, two hybrid)
MLH1
BLM
Description
mutL homolog 1
BLM RecQ like helicase
Image
GO Annotations
Cellular Component
Synaptonemal Complex
Male Germ Cell Nucleus
Nucleus
Nucleoplasm
Chromosome
Late Recombination Nodule
Membrane
Mismatch Repair Complex
MutLalpha Complex
Nuclear Chromosome
Chromosome, Telomeric Region
Lateral Element
Nucleus
Nucleoplasm
Replication Fork
Chromosome
Nucleolus
Cytoplasm
Cytosol
Nuclear Matrix
PML Body
Protein-containing Complex
Molecular Function
Chromatin Binding
Single-stranded DNA Binding
Protein Binding
ATP Binding
ATPase Activity
Enzyme Binding
Guanine/thymine Mispair Binding
MutSalpha Complex Binding
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
Biological Process
Nuclear-transcribed MRNA Poly(A) Tail Shortening
Resolution Of Meiotic Recombination Intermediates
Mismatch Repair
Double-strand Break Repair Via Nonhomologous End Joining
Male Meiosis Chromosome Segregation
Homologous Chromosome Pairing At Meiosis
Spermatogenesis
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Response To Bacterium
Female Meiosis Chromosome Segregation
Somatic Hypermutation Of Immunoglobulin Genes
Meiotic Metaphase I Plate Congression
Meiotic Telomere Clustering
Isotype Switching
Negative Regulation Of Mitotic Recombination
Positive Regulation Of Isotype Switching To IgA Isotypes
Positive Regulation Of Isotype Switching To IgG Isotypes
Oogenesis
Meiotic Spindle Midzone Assembly
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
Pathways
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
TP53 Regulates Transcription of DNA Repair Genes
Meiotic recombination
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
Drugs
Diseases
Colorectal cancer
Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
Endometrial Cancer
Ovarian cancer
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
Autism spectrum disorder or schizophrenia (
28540026
)
Platelet distribution width (
32888494
)
Schizophrenia (
28991256
)
Subjective response to lithium treatment (
26503763
)
Coronary artery disease (
32469254
)
Daytime sleep phenotypes (
27126917
)
Interacting Genes
139 interacting genes:
ABCC3
ABHD16A
ACER3
ACTG2
AGR2
AIFM1
ALDOA
ALDOB
ANXA6
AP1B1
AP2B1
APRT
ARAF
ASS1
ATF2
BAAT
BLM
BRCA1
BTBD2
C9orf152
CAB39L
CAPN5
CASP3
CBY2
CCDC180
CCDC33
CCDC74B
CDCA7L
CDKL5
CEP126
CEP76
CKAP4
CKB
CTSV
CYLC2
DDX47
EEF1G
EEF2
EIF2A
ELP6
ENKD1
EXO1
EXOC3
FAM228A
FAM50B
FAM90A1
FAN1
FBXO32
FCGBP
FLNB
FRAT2
FRMD6
GABARAP
GSTP1
HDAC6
IGKC
ISY1
KPNA2
KPNA5
KPRP
LEF1
LGALS4
LUC7L3
LY96
MAGEA8
MAP2K6
MBD3L1
MBD4
MLH3
MORN3
MPG
MSH3
MSH4
MUC2
MYC
MYL6
MYOG
NANOS3
NDRG1
NELFA
NFIX
NME4
NT5C3B
ORC4
PARP12
PARVA
PCNA
PER2
PIP4K2B
PMS1
PMS2
PPP1R13B
PPP2CB
PRR5L
PSMA1
PTGDS
PTPN3
PTPRH
RAD23B
RAD9A
RADX
RAPGEFL1
RBM48
RSPH3
SEC61A1
SELENBP1
SERPINF1
SMAD1
SPATA8
SQSTM1
STAP2
STX17
SYF2
TASOR2
TDRD7
TFAP2D
TLE5
TRIM23
TRIM29
TRMO
TSGA13
TXN
TXN2
U2AF1
U2AF1L5
UBOX5
VAMP8
XPA
ZBED1
ZC3H11A
ZER1
ZFP57
ZFP90
ZMAT5
ZNF177
ZNF212
ZNF474
ZNF559-ZNF177
ZNF774
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
Entrez ID
4292
641
HPRD ID
00390
05211
Ensembl ID
ENSG00000076242
ENSG00000197299
Uniprot IDs
A0A024R2S9
P40692
Q59EG3
B7ZKN7
H0YNU5
P54132
PDB IDs
3RBN
4P7A
5U5P
2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
5LUP
5MK5
5U6K
Enriched GO Terms of Interacting Partners
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