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MLH1 and BRCA1
Data Source:
HPRD
(in vitro)
MLH1
BRCA1
Description
mutL homolog 1
BRCA1 DNA repair associated
Image
GO Annotations
Cellular Component
Synaptonemal Complex
Male Germ Cell Nucleus
Nucleus
Nucleoplasm
Chromosome
Late Recombination Nodule
Membrane
Mismatch Repair Complex
MutLalpha Complex
Ubiquitin Ligase Complex
Lateral Element
Nucleus
Nucleoplasm
Chromosome
Cytoplasm
Plasma Membrane
Gamma-tubulin Ring Complex
Nuclear Body
BRCA1-BARD1 Complex
Protein-containing Complex
BRCA1-A Complex
Ribonucleoprotein Complex
Molecular Function
Chromatin Binding
Single-stranded DNA Binding
Protein Binding
ATP Binding
ATPase Activity
Enzyme Binding
Guanine/thymine Mispair Binding
MutSalpha Complex Binding
Transcription Regulatory Region Sequence-specific DNA Binding
DNA Binding
Damaged DNA Binding
Transcription Coactivator Activity
RNA Binding
Ubiquitin-protein Transferase Activity
Protein Binding
Zinc Ion Binding
Tubulin Binding
Enzyme Binding
Ubiquitin Protein Ligase Binding
Identical Protein Binding
RNA Polymerase 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
Double-strand Break Repair Via Homologous Recombination
DNA Double-strand Break Processing
DNA Replication
Postreplication Repair
Double-strand Break Repair
Double-strand Break Repair Via Nonhomologous End Joining
Regulation Of Gene Expression By Genetic Imprinting
Regulation Of Transcription By RNA Polymerase II
Regulation Of Transcription By RNA Polymerase III
Fatty Acid Biosynthetic Process
Apoptotic Process
Cellular Response To DNA Damage Stimulus
DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator
Chromosome Segregation
Centrosome Cycle
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Dosage Compensation By Inactivation Of X Chromosome
Response To Ionizing Radiation
Positive Regulation Of Vascular Endothelial Growth Factor Production
Positive Regulation Of Gene Expression
Protein Ubiquitination
Protein Deubiquitination
Positive Regulation Of Protein Ubiquitination
Negative Regulation Of Intracellular Estrogen Receptor Signaling Pathway
Positive Regulation Of Histone Acetylation
Negative Regulation Of Histone Acetylation
Regulation Of Cell Population Proliferation
Regulation Of Apoptotic Process
Chordate Embryonic Development
Response To Estrogen
Regulation Of DNA Methylation
Mitotic G2/M Transition Checkpoint
Negative Regulation Of Fatty Acid Biosynthetic Process
Positive Regulation Of DNA Repair
Positive Regulation Of Angiogenesis
Negative Regulation Of Transcription, DNA-templated
Positive Regulation Of Transcription, DNA-templated
Positive Regulation Of Transcription By RNA Polymerase II
Negative Regulation Of Centriole Replication
Positive Regulation Of Histone H3-K4 Methylation
Negative Regulation Of Histone H3-K4 Methylation
Negative Regulation Of Histone H3-K9 Methylation
Positive Regulation Of Histone H3-K9 Methylation
Protein Autoubiquitination
Negative Regulation Of G0 To G1 Transition
Positive Regulation Of Histone H4-K20 Methylation
Positive Regulation Of Cell Cycle Arrest
Cellular Response To Tumor Necrosis Factor
Cellular Response To Indole-3-methanol
Signal Transduction Involved In G2 DNA Damage Checkpoint
Protein K6-linked Ubiquitination
Regulation Of Signal Transduction By P53 Class Mediator
Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors
Negative Regulation Of Reactive Oxygen Species Metabolic Process
Positive Regulation Of Histone H3-K9 Acetylation
Positive Regulation Of Histone H4-K16 Acetylation
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
Meiotic synapsis
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Metalloprotease DUBs
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
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Transcriptional Regulation by E2F6
Meiotic recombination
Defective DNA double strand break response due to BRCA1 loss of function
Defective DNA double strand break response due to BARD1 loss of function
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
Breast cancer
Ovarian cancer
GWAS
Autism spectrum disorder or schizophrenia (
28540026
)
Platelet distribution width (
32888494
)
Schizophrenia (
28991256
)
Subjective response to lithium treatment (
26503763
)
Gynecologic disease (multivariate analysis) (
31488892
)
Menopause (age at onset) (
26414677
29773799
)
Monocyte percentage of white cells (
32888494
)
Ovarian cancer (
31488892
)
Ovarian cancer (MTAG) (
31488892
)
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
318 interacting genes:
ABL1
ABLIM3
ABRAXAS1
ACACA
ACTG1
ACTN3
AHR
AKT1
ALDH1A1
ANKRD28
ANTXR1
AP1M1
APLP2
AR
ARNT
ASH2L
ATF1
ATM
ATP1B1
ATP1B3
ATR
ATRIP
AURKA
AURKC
BABAM1
BAP1
BARD1
BRAP
BRAT1
BRCA2
BRCC3
BRIP1
BRSK1
C2CD6
CABYR
CASP3
CBX1
CBX5
CCDC120
CCNA1
CCNA2
CCNB1
CCND1
CDC25C
CDK1
CDK2
CDK4
CDK7
CDKN2D
CEP57L1
CHEK1
CHEK2
CLSPN
CNRIP1
CNTLN
CNTN4
COL1A1
COMMD1
CREBBP
CRY2
CRYZL1
CSNK1D
CSNK2A1
CSNK2B
CSTF1
CTBP1
CTCFL
CTNNB1
CUBN
CWF19L2
DALRD3
DBF4
DCLRE1C
DCN
DDX24
DES
DHPS
DHX9
DNAJA1
DNAJA3
DNAJB1
DNHD1
DYNC1H1
DYNLT2B
E2F1
E2F4
EED
EIF3B
EIF4A2
EIF5B
ELK1
ELK4
ELOA
ENO1
EP300
ERCC5
ERCC6
ERO1B
ESR1
ETS1
ETV5
EZH2
FAM161A
FAM184A
FANCA
FANCD2
FBXO44
FHL2
FLI1
FLNA
FXR2
GCC1
GFI1B
GGN
GOLGA8DP
GTF3C4
GUSBP1
H2AC20
H2AC4
H2AX
HDAC1
HDAC2
HECTD3
HGF
HIBADH
HIVEP1
HNRNPC
HNRNPD
HORMAD1
HSPA14
HSPA8
HSPD1
IFI16
INPP1
ITIH5
ITPR1
ITPRID2
JAK1
JAK2
JUN
JUNB
JUND
JUP
KAT5
KDM1A
KIF1B
KPNA2
KPNA6
LCK
LCMT1
LDHC
LMNTD1
LMO4
LONRF1
MACROH2A1
MAN2C1
MAP3K1
MAP3K14
MAP3K3
MAP4K4
MARCKSL1
MDC1
MED1
MED21
MID2
MLH1
MNAT1
MSH2
MSH3
MSH6
MT-ND1
MYC
MYOZ1
NBN
NCOA2
NCOA3
NELFB
NFKB1
NFYA
NKAPL
NMI
NPC2
NRIP1
NUFIP1
NUP153
OBSCN
PARG
PEG3
PEX5
PGR
PHF12
PIAS1
PIAS4
PIK3R1
PILRB
PIN1
PISD
POLB
POLR2A
POLR2H
POLR2K
POM121
POMGNT1
POU2F1
PPHLN1
PPP1CA
PPP1CB
PPP1R13B
PPP2R5C
PREP
PRKAG3
PRKDC
PRMT1
PRPF3
PSAP
PSMA6
PSMA7
PSMD9
PSMG1
RACK1
RAD51
RANBP9
RB1
RBBP4
RBBP7
RBBP8
RBL1
RBL2
RCC1L
RELA
RFC1
RNF216
RPGRIP1
RPL31
RTKN2
RTL10
RUNX1T1
RWDD2B
RWDD4
SDK2
SETX
SKP2
SMAD2
SMAD3
SMAD4
SMARCA2
SMARCA4
SMC1A
SNRNP200
SNX3
SNX6
SOX30
SP1
SPATA4
SQSTM1
SSX2IP
STAC2
STAT1
STAT3
STAT5A
SUMO1
SYT6
TARS1
TATDN2
TCEA2
TCEANC
TEX101
THOC3
TLE4
TMPRSS12
TNS2
TOP1
TOP2A
TP53
TP53BP1
TPTE2
TRIM24
TRIM46
TRIM74
TRRAP
TSEN54
TSGA10IP
TUBA4A
TUBB
TUBG1
TULP2
TXLNA
UBB
UBC
UBE2D1
UBE2D2
UBE2D3
UBE2E1
UBE2E2
UBE2E3
UBE2J1
UBE2K
UBE2L3
UBE2N
UBE2T
UBE2W
UBE3A
UBXN1
USF2
USH2A
USP2
VCP
WDR6
WNT2B
WRN
XIAP
XRCC1
XRCC5
YY1
ZNF280D
ZNF350
ZNF423
ZSCAN21
Entrez ID
4292
672
HPRD ID
00390
00218
Ensembl ID
ENSG00000076242
ENSG00000012048
Uniprot IDs
A0A024R2S9
P40692
Q59EG3
A0A024R1V0
P38398
PDB IDs
3RBN
4P7A
5U5P
1JM7
1JNX
1N5O
1OQA
1T15
1T29
1T2U
1T2V
1Y98
2ING
3COJ
3K0H
3K0K
3K15
3K16
3PXA
3PXB
3PXC
3PXD
3PXE
4IFI
4IGK
4JLU
4OFB
4U4A
4Y18
4Y2G
6G2I
Enriched GO Terms of Interacting Partners
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