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MLH1 [nucleoplasm]
Stable Identifier
R-HSA-912495
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
DNA mismatch repair protein Mlh1, MLH1_HUMAN
Icon
Locations in the PathwayBrowser for interactor UniProt:Q96KQ4 PPP1R13B
Expand all
Cell Cycle (Homo sapiens)
Meiosis (Homo sapiens)
Meiotic recombination (Homo sapiens)
Resolution of meiotic holliday junction (Homo sapiens)
MLH1 [nucleoplasm] (Homo sapiens)
DNA Repair (Homo sapiens)
Mismatch Repair (Homo sapiens)
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) (Homo sapiens)
Formation of MSH1:PMS2 Complex (Homo sapiens)
MLH1 [nucleoplasm] (Homo sapiens)
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Mismatch Repair (MMR) (Homo sapiens)
Defective Mismatch Repair Associated With PMS2 (Homo sapiens)
PMS2 variants-defective DNA mismatch repair (Homo sapiens)
MLH1 [nucleoplasm] (Homo sapiens)
Gene expression (Transcription) (Homo sapiens)
RNA Polymerase II Transcription (Homo sapiens)
Generic Transcription Pathway (Homo sapiens)
Transcriptional Regulation by TP53 (Homo sapiens)
TP53 Regulates Transcription of DNA Repair Genes (Homo sapiens)
TP53 stimulates MLH1 expression (Homo sapiens)
MLH1 [nucleoplasm] (Homo sapiens)
Reproduction (Homo sapiens)
Meiosis (Homo sapiens)
Meiotic recombination (Homo sapiens)
Resolution of meiotic holliday junction (Homo sapiens)
MLH1 [nucleoplasm] (Homo sapiens)
External Reference Information
External Reference
UniProt:P40692 MLH1
Gene Names
MLH1, COCA2
Chain
initiator methionine:, chain:2-756
Reference Genes
BioGPS Gene:4292 MLH1
COSMIC (genes):MLH1 MLH1
CTD Gene:4292 MLH1
dbSNP Gene:4292 MLH1
ENSEMBL:ENSG00000076242 MLH1
ENSEMBL_homo_sapiens_GENE:ENSG00000076242.17 MLH1
HGNC:7127 MLH1
KEGG Gene (Homo sapiens):4292 MLH1
Monarch:4292 MLH1
NCBI Gene:4292 MLH1
OMIM:120436 MLH1
UCSC:P40692 MLH1
Reference Transcript
RefSeq:NM_001167619.1 MLH1
RefSeq:NM_001258271.1 MLH1
RefSeq:NM_001167617.1 MLH1
RefSeq:NM_001167618.1 MLH1
RefSeq:XM_005265163.1 MLH1
RefSeq:NM_000249.3 MLH1
RefSeq:XM_005265164.1 MLH1
RefSeq:NM_001258273.1 MLH1
RefSeq:NM_001258274.1 MLH1
Other Identifiers
11717635_a_at
11756036_x_at
11760865_at
16938899
1850_at
202520_PM_s_at
202520_s_at
2616933
2616934
2616935
2616936
2616937
2616938
2616940
2616941
2616942
2616944
2616946
2616947
2616948
2616949
2616950
2616951
2616958
2616963
2616967
2616968
2616969
2616970
2616971
2616972
2616976
2616977
2616980
2616982
2616985
2616986
4292
8078544
AF001359_f_at
A_14_P105437
A_14_P110897
A_23_P69058
A_33_P3419720
GE58891
GO:0000166
GO:0000228
GO:0000289
GO:0000712
GO:0000793
GO:0000794
GO:0000795
GO:0001673
GO:0002204
GO:0002376
GO:0003677
GO:0003682
GO:0003697
GO:0003824
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0005694
GO:0005712
GO:0005715
GO:0006281
GO:0006298
GO:0006303
GO:0006310
GO:0006974
GO:0007010
GO:0007049
GO:0007059
GO:0007060
GO:0007129
GO:0007131
GO:0007140
GO:0007283
GO:0008630
GO:0009617
GO:0012501
GO:0016020
GO:0016071
GO:0016321
GO:0016446
GO:0016447
GO:0016787
GO:0016887
GO:0019899
GO:0022414
GO:0023052
GO:0030154
GO:0030983
GO:0032137
GO:0032300
GO:0032389
GO:0032407
GO:0043060
GO:0043226
GO:0043229
GO:0045132
GO:0045141
GO:0045143
GO:0045190
GO:0045950
GO:0048298
GO:0048304
GO:0048477
GO:0048856
GO:0051257
GO:0051321
GO:0140013
GO:0140097
GO:0140299
GO:0140657
GO:0140664
HMNXSV003034534
PH_hs_0020137
TC03000175.hg
U07418_at
g4557756_3p_s_at
Participates
as an input of
PMS2 variants-defective DNA mismatch repair (Homo sapiens)
Resolution of meiotic holliday junction (Homo sapiens)
Formation of MSH1:PMS2 Complex (Homo sapiens)
as a component of
MLH1:MLH3 [nucleoplasm] (Homo sapiens)
MLH1:PMS2 [nucleoplasm] (Homo sapiens)
as an output of
TP53 stimulates MLH1 expression (Homo sapiens)
Other forms of this molecule
MLH1 S252* [nucleoplasm]
MLH1 H329P [nucleoplasm]
Inferred To
MLH1 [nucleoplasm]
(Bos taurus)
MLH1 [nucleoplasm]
(Canis familiaris)
MLH1 [nucleoplasm]
(Gallus gallus)
MLH1 [nucleoplasm]
(Mus musculus)
MLH1 [nucleoplasm]
(Plasmodium falciparum)
MLH1 [nucleoplasm]
(Rattus norvegicus)
MLH1 [nucleoplasm]
(Saccharomyces cerevisiae)
MLH1 [nucleoplasm]
(Sus scrofa)
mlh-1 [nucleoplasm]
(Caenorhabditis elegans)
mlh1 [nucleoplasm]
(Danio rerio)
mlh1 [nucleoplasm]
(Dictyostelium discoideum)
mlh1 [nucleoplasm]
(Schizosaccharomyces pombe)
Mlh1 [nucleoplasm]
(Drosophila melanogaster)
Cross References
RefSeq
NP_000240.1
,
NP_001161089.1
,
XP_005265221.1
,
NP_001161090.1
,
NP_001161091.1
,
XP_005265220.1
,
NP_001245202.1
,
NP_001245200.1
,
NP_001245203.1
OpenTargets
ENSG00000076242
HPA
ENSG00000076242-MLH1
GeneCards
P40692
Ensembl
ENST00000435176
,
ENST00000539477
,
ENST00000674019
,
ENSP00000443665
,
ENSP00000398272
,
ENST00000455445
,
ENSP00000501081
,
ENST00000458205
,
ENSP00000444286
,
ENSP00000402564
,
ENSP00000402667
,
ENSP00000231790
,
ENST00000536378
,
ENSG00000076242
,
ENST00000231790
PRO
P40692
Pharos - Targets
P40692
Orphanet
16407
PDB
6WBA
,
3RBN
,
6WBB
,
4P7A
,
6WBC
,
5U5P
,
7M60
Interactors (78)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P54278 PMS2
3
PMS2 R134* [nucleoplasm]
(R-HSA-5632982)
PMS2 R628* [nucleoplasm]
(R-HSA-5632980)
PMS2 [nucleoplasm]
(R-HSA-5357527)
0.965
23
UniProt:Q9BX63 BRIP1
2
p-S990,Ac-K1249-BRIP1 [nucleoplasm]
(R-HSA-5687710)
BRIP1 [cytosol]
(R-HSA-2564781)
0.916
20
UniProt:P15173 MYOG
1
MYOG [nucleoplasm]
(R-HSA-445160)
0.886
12
UniProt:Q6NSI4 RADX
0.87
9
UniProt:O75152 ZC3H11A
1
ZC3H11A [nucleoplasm]
(R-HSA-8850659)
0.87
8
UniProt:O94941 UBOX5
1
UBOX5 [cytosol]
(R-HSA-976034)
0.846
7
UniProt:P52292 KPNA2
2
KPNA2 [nucleoplasm]
(R-HSA-206045)
KPNA2 [cytosol]
(R-HSA-205976)
0.83
9
UniProt:Q8NA61 CBY2
0.8
6
UniProt:Q8NA61-2 CBY2
0.795
11
UniProt:P63010-2 AP2B1
0.795
8
UniProt:P43361 MAGA8
0.781
7
UniProt:P54277 PMS1
0.779
7
UniProt:P25786 PSMA1
2
PSMA1 [nucleoplasm]
(R-HSA-174333)
PSMA1 [cytosol]
(R-HSA-68724)
0.742
5
UniProt:P20585 MSH3
2
MSH3 K383Rfs*32 [nucleoplasm]
(R-HSA-5578664)
MSH3 [nucleoplasm]
(R-HSA-5357519)
0.742
5
UniProt:P62328 TMSB4X
2
TMSB4X [extracellular region]
(R-HSA-349753)
TMSB4X [platelet alpha granule lumen]
(R-HSA-349758)
0.733
15
UniProt:Q9UHC1 MLH3
1
MLH3 [nucleoplasm]
(R-HSA-912478)
0.721
6
UniProt:Q5VWN6 TASO2
0.718
6
UniProt:Q96NE9 FRMD6
0.668
3
UniProt:Q96GN5 CDA7L
0.666
4
UniProt:Q96NE9-2 FRMD6
0.666
4
UniProt:O76039 CDKL5
0.666
4
UniProt:Q8N5R6 CCD33
0.666
4
UniProt:Q9NXL9 MCM9
0.662
5
UniProt:P38398 BRCA1
20
polySUMO2,3-BRCA1 [nucleoplasm]
(R-HSA-2997624)
monoSUMO1-K109-BRCA1 [nucleoplasm]
(R-HSA-2997644)
BRCA1 M1411T [nucleoplasm]
(R-HSA-9702140)
BRCA1 M1400V [nucleoplasm]
(R-HSA-9701202)
BRCA1 L1407P [nucleoplasm]
(R-HSA-9702135)
BRCA1 Y777* [nucleoplasm]
(R-HSA-9702765)
BRCA1 S1009* [nucleoplasm]
(R-HSA-9702755)
BRCA1 P724Lfs*12 [nucleoplasm]
(R-HSA-9703778)
BRCA1 S451* [nucleoplasm]
(R-HSA-9702754)
BRCA1 S864* [nucleoplasm]
(R-HSA-9702752)
BRCA1 P897Kfs*5 [nucleoplasm]
(R-HSA-9703782)
BRCA1 N555Kfs*17 [nucleoplasm]
(R-HSA-9703781)
BRCA1 Y1127Sfs*6 [nucleoplasm]
(R-HSA-9703780)
BRCA1 S886Cfs*16 [nucleoplasm]
(R-HSA-9703802)
BRCA1 V83Cfs*2 [nucleoplasm]
(R-HSA-9703800)
BRCA1 T464Pfs*11 [nucleoplasm]
(R-HSA-9703807)
BRCA1 G813Dfs*2 [nucleoplasm]
(R-HSA-9703549)
BRCA1 V340Gfs*6 [nucleoplasm]
(R-HSA-9703804)
BRCA1 Y655* [nucleoplasm]
(R-HSA-9702769)
BRCA1 W372* [nucleoplasm]
(R-HSA-9702768)
0.615
3
UniProt:Q13813 SPTAN1
6
SPTAN1 [cytosol]
(R-HSA-201601)
SPTAN1(1-1185) [cytosol]
(R-HSA-202944)
SPTAN1(1186-2472) [cytosol]
(R-HSA-202964)
SPTAN1 [tertiary granule lumen]
(R-HSA-6800874)
SPTAN1 [extracellular region]
(R-HSA-6806322)
SPTAN1 [specific granule lumen]
(R-HSA-6799533)
0.602
6
UniProt:P17661 DES
1
DES [cytosol]
(R-HSA-390570)
0.602
6
UniProt:P63261 ACTG1
3
ACTG1 [cytosol]
(R-HSA-201858)
ACTG1 [lysosomal membrane]
(R-HSA-196169)
ACTG1 [plasma membrane]
(R-HSA-196044)
0.602
6
UniProt:P07858 CTSB
6
CTSB(80-333) [lysosomal lumen]
(R-HSA-1181222)
CTSB(129-333) [extracellular region]
(R-HSA-2471625)
CTSB(80-126) [extracellular region]
(R-HSA-2228661)
CTSB(80-333) [extracellular region]
(R-HSA-6801608)
CTSB(80-333) [ficolin-1-rich granule lumen]
(R-HSA-6801299)
CTSB(80-333) [endolysosome lumen]
(R-HSA-1679058)
0.602
6
UniProt:P07355 ANXA2
6
ANXA2 [cytosol]
(R-HSA-5263667)
ANXA2 [external side of plasma membrane]
(R-HSA-5336164)
p-Y24,S26-ANXA2 [cytosol]
(R-HSA-9865224)
p-S26-ANXA2 [cytosol]
(R-HSA-9865163)
ANXA2 [extracellular region]
(R-HSA-6806242)
ANXA2 [azurophil granule lumen]
(R-HSA-6798766)
0.602
6
UniProt:Q16658 FSCN1
1
FSCN1 [cytosol]
(R-HSA-6789835)
0.597
7
UniProt:Q9UJA3 MCM8
1
MCM8 [nucleoplasm]
(R-HSA-3006646)
0.564
2
UniProt:Q10567-3 AP1B1
0.556
3
UniProt:Q96PP4 TSG13
0.556
3
IntAct:EBI-23841550 CCSB ORF ID
0.556
3
UniProt:Q6PF18 MORN3
0.556
3
UniProt:Q5T749 KPRP
1
KPRP [cytosol]
(R-HSA-9839614)
0.556
3
UniProt:Q7Z6R9 TFAP2D
1
TFAP2D [nucleoplasm]
(R-HSA-5626817)
0.556
5
UniProt:Q01081 U2AF1
1
U2AF1 [nucleoplasm]
(R-HSA-71985)
0.556
3
UniProt:Q6RVD6 SPAT8
0.556
3
UniProt:P78356-2 PIP4K2B
0.556
3
UniProt:Q9Y247 FA50B
0.556
3
UniProt:Q86YD7 F90A1
0.556
3
UniProt:Q9UDV6 ZNF212
1
ZNF212 [nucleoplasm]
(R-HSA-1027348)
0.556
3
UniProt:Q9NU63-3 ZFP57
0.556
3
UniProt:Q9H0I2 ENKD1
0.556
3
UniProt:Q8WWY6 MB3L1
0.556
3
UniProt:P29372-4 MPG
0.556
3
UniProt:O15055 PER2
4
p-S-PER2 [cytosol]
(R-HSA-400331)
p-S-PER2 [nucleoplasm]
(R-HSA-3325591)
PER2 [cytosol]
(R-HSA-400399)
Ub-p-S-PER2 [cytosol]
(R-HSA-517835)
0.556
3
IntAct:EBI-16439879 CCSB ORF ID
0.556
3
UniProt:Q8TF47 ZFP90
1
ZFP90 [nucleoplasm]
(R-HSA-974988)
0.556
3
UniProt:Q08117-2 TLE5
0.556
3
UniProt:P60323-2 P603232
0.556
3
UniProt:O95243-2 MBD4
0.556
3
UniProt:Q5RL73 RBM48
0.556
3
UniProt:Q6S9Z5 ZN474
0.556
3
UniProt:Q86UC2 RSPH3
0.556
3
UniProt:Q9UDW3 ZMAT5
1
ZMAT5 [nucleoplasm]
(R-HSA-6787850)
0.556
3
UniProt:O15131 KPNA5
2
KPNA5 [nucleoplasm]
(R-HSA-1176068)
KPNA5 [cytosol]
(R-HSA-1176062)
0.556
3
UniProt:Q96LY2-2 Q96LY22
0.556
3
UniProt:Q86W67 F228A
0.556
3
UniProt:O95926 SYF2
1
SYF2 [nucleoplasm]
(R-HSA-8867884)
0.556
3
UniProt:Q6MZQ0 PRR5L
0.556
3
UniProt:O95232-2 O952322
0.556
3
UniProt:Q9ULR0 ISY1
1
ISY1 [nucleoplasm]
(R-HSA-6781963)
0.556
3
UniProt:Q14938-5 NFIX
0.556
3
UniProt:P42843 SKP2
0.556
3
UniProt:Q9BX70 BTBD2
0.556
3
UniProt:O00746 NME4
1
NME4 [mitochondrial inner membrane]
(R-HSA-60026)
0.556
3
UniProt:Q96KQ4 PPP1R13B
1
PPP1R13B [nucleoplasm]
(R-HSA-6799775)
0.556
3
IntAct:EBI-23254932 CCSB ORF ID
0.556
3
UniProt:Q13360-2 ZNF177
0.556
3
UniProt:Q5JTZ5 CI152
0.556
3
UniProt:Q6NX45 ZNF774
1
ZNF774 [nucleoplasm]
(R-HSA-3110232)
0.556
3
UniProt:Q9H3P2 NELFA
1
NELFA [nucleoplasm]
(R-HSA-112426)
0.556
3
UniProt:P26045 PTPN3
3
PTPN3 [plasma membrane]
(R-HSA-5490317)
p-S459 PTPN3 [cytosol]
(R-HSA-8868111)
PTPN3 [cytosol]
(R-HSA-8867650)
0.556
3
UniProt:Q9Y2M0 FAN1
1
FAN1 [nucleoplasm]
(R-HSA-6785736)
0.527
3
UniProt:Q15233 NONO
0.519
2
UniProt:P11142 HSPA8
10
Me3K561-HSPA8 [nucleoplasm]
(R-HSA-8932217)
HSPA8 [secretory granule lumen]
(R-HSA-6801530)
HSPA8 [extracellular region]
(R-HSA-6805936)
HSPA8 [ficolin-1-rich granule lumen]
(R-HSA-6801494)
HSPA8 [nucleoplasm]
(R-HSA-5082380)
HSPA8 [plasma membrane]
(R-HSA-936508)
HSPA8 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane]
(R-HSA-888599)
HSPA8 [late endosome lumen]
(R-HSA-9631104)
HSPA8 [lysosomal lumen]
(R-HSA-9625182)
HSPA8 [cytosol]
(R-HSA-264476)
0.499
2
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