Reactome | MLH1 S252* [nucleoplasm]

MLH1 S252* [nucleoplasm]

Stable Identifier

R-HSA-5444526

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MLH1 SER252TER, DNA mismatch repair protein Mlh1, MLH1_HUMAN

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
8128251	Mutation of a mutL homolog in hereditary colon cancer Wei, YF, Fleischmann, RD, Papadopoulos, N, Rosen, CA, Haseltine, WA, Nicolaides, NC, Adams, MD, Carter, KC, Ruben, SM, Fraser, CM	Science	1994

External Reference Information

External Reference

UniProt:P40692 MLH1

Gene Names

MLH1, COCA2

Chain

initiator methionine:1, chain:2-756

Reference Genes

BioGPS Gene:4292 MLH1

COSMIC (genes):MLH1 MLH1

CTD Gene:4292 MLH1

dbSNP Gene:4292 MLH1

ENSEMBL:ENSG00000076242 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

Other Identifiers

11717635_a_at

11756036_x_at

11760865_at

16938899

1850_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:0000003

GO:0000166

GO:0000228

GO:0000289

GO:0000712

GO:0000793

GO:0000794

GO:0000795

GO:0001673

GO:0002204

GO:0002376

GO:0003674

GO:0003677

GO:0003682

GO:0003697

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005712

GO:0005715

GO:0006259

GO:0006281

GO:0006298

GO:0006303

GO:0006950

GO:0006974

GO:0007010

GO:0007049

GO:0007059

GO:0007060

GO:0007129

GO:0007131

GO:0007140

GO:0007165

GO:0007283

GO:0008150

GO:0008219

GO:0008630

GO:0009056

GO:0009617

GO:0016020

GO:0016321

GO:0016446

GO:0016447

GO:0016887

GO:0019899

GO:0022607

GO:0030154

GO:0030983

GO:0032137

GO:0032300

GO:0032389

GO:0032407

GO:0032991

GO:0034641

GO:0034655

GO:0043060

GO:0043167

GO:0043226

GO:0045132

GO:0045141

GO:0045143

GO:0045190

GO:0045950

GO:0048298

GO:0048304

GO:0048477

GO:0048856

GO:0051257

GO:0051276

GO:0051321

HMNXSV003034534

PH_hs_0020137

TC03000175.hg

U07418_at

g4557756_3p_s_at

Participates

as a member of

MLH1 Variants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

MLH1 H329P [nucleoplasm]

MLH1 [nucleoplasm]

Modified Residues

Name

L-serine 252 replaced with unknown

Coordinate

252

PsiMod

L-serine removal [MOD:01646]

A protein modification that effectively removes or replaces an L-serine.

Disease

Name	Identifier	Synonyms
colorectal cancer	DOID:9256

Cross References

RefSeq

NP_000240.1, NP_001161090.1, NP_001161089.1, NP_001245202.1, NP_001161091.1, NP_001245200.1, XP_005265221.1, NP_001245203.1, XP_005265220.1

OpenTargets

ENSG00000076242

HPA

ENSG00000076242-MLH1

GeneCards

P40692

Ensembl

ENSP00000444286, ENST00000231790, ENST00000455445, ENSP00000501081, ENST00000458205, ENSP00000398272, ENST00000435176, ENST00000674019, ENST00000536378, ENSP00000443665, ENSP00000231790, ENST00000539477, ENSG00000076242, ENSP00000402667, ENSP00000402564

PRO

P40692

Pharos - Targets

P40692

Orphanet

16407

GlyGen

P40692

PDB

5U5P, 3RBN, 4P7A

Interactors (74)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P54278 PMS2	3	PMS2 [nucleoplasm] (R-HSA-5357527) PMS2 R134* [nucleoplasm] (R-HSA-5632982) PMS2 R628* [nucleoplasm] (R-HSA-5632980)	0.961	21
UniProt:P15173 MYOG	1	MYOG [nucleoplasm] (R-HSA-445160)	0.886	12
UniProt:Q6NSI4 RADX			0.87	9
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:O75152 ZC3H11A	1	ZC3H11A [nucleoplasm] (R-HSA-8850659)	0.829	7
UniProt:Q9BX63 BRIP1	2	BRIP1 [cytosol] (R-HSA-2564781) p-S990,Ac-K1249-BRIP1 [nucleoplasm] (R-HSA-5687710)	0.807	14
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:P20585 MSH3	2	MSH3 [nucleoplasm] (R-HSA-5357519) MSH3 414TER [nucleoplasm] (R-HSA-5578664)	0.742	5
UniProt:P25786 PSMA1	2	PSMA1 [nucleoplasm] (R-HSA-174333) PSMA1 [cytosol] (R-HSA-68724)	0.742	5
UniProt:P62328 TMSB4X	2	TMSB4X [extracellular region] (R-HSA-349753) TMSB4X [platelet alpha granule lumen] (R-HSA-349758)	0.733	16
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:Q9UHC1 MLH3	1	MLH3 [nucleoplasm] (R-HSA-912478)	0.635	4
UniProt:P54277 PMS1			0.632	4
UniProt:P17661 DES	1	DES [cytosol] (R-HSA-390570)	0.602	7
UniProt:P63261 ACTG1	3	ACTG1 [lysosomal membrane] (R-HSA-196169) ACTG1 [plasma membrane] (R-HSA-196044) ACTG1 [cytosol] (R-HSA-201858)	0.602	7
UniProt:P07858 CTSB	6	CTSB(129-333) [extracellular region] (R-HSA-2471625) CTSB(80-333) [endolysosome lumen] (R-HSA-1679058) CTSB(80-333) [extracellular region] (R-HSA-6801608) CTSB(80-126) [extracellular region] (R-HSA-2228661) CTSB(80-333) [ficolin-1-rich granule lumen] (R-HSA-6801299) CTSB(80-333) [lysosomal lumen] (R-HSA-1181222)	0.602	7
UniProt:Q13813 SPTAN1	6	SPTAN1 [extracellular region] (R-HSA-6806322) SPTAN1 [tertiary granule lumen] (R-HSA-6800874) SPTAN1 [cytosol] (R-HSA-201601) SPTAN1(1186-2472) [cytosol] (R-HSA-202964) SPTAN1(1-1185) [cytosol] (R-HSA-202944) SPTAN1 [specific granule lumen] (R-HSA-6799533)	0.602	7
UniProt:P07355 ANXA2	4	ANXA2 [extracellular region] (R-HSA-6806242) ANXA2 [external side of plasma membrane] (R-HSA-5336164) ANXA2 [cytosol] (R-HSA-5263667) ANXA2 [azurophil granule lumen] (R-HSA-6798766)	0.602	7
UniProt:Q16658 FSCN1	1	FSCN1 [cytosol] (R-HSA-6789835)	0.597	7
UniProt:Q96PP4 TSG13			0.556	3
UniProt:Q10567-3 AP1B1			0.556	3
IntAct:EBI-23841550 CCSB ORF ID			0.556	3
UniProt:Q6PF18 MORN3			0.556	3
UniProt:Q7Z6R9 TFAP2D	1	TFAP2D [nucleoplasm] (R-HSA-5626817)	0.556	5
UniProt:Q5T749 KPRP			0.556	3
UniProt:Q6RVD6 SPAT8			0.556	3
UniProt:P78356-2 PIP4K2B			0.556	3
UniProt:P26045 PTPN3	3	PTPN3 [plasma membrane] (R-HSA-5490317) PTPN3 [cytosol] (R-HSA-8867650) p-S459 PTPN3 [cytosol] (R-HSA-8868111)	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
IntAct:EBI-16439879 CCSB ORF ID			0.556	3
UniProt:Q8TF47 ZFP90	1	ZFP90 [nucleoplasm] (R-HSA-974988)	0.556	3
IntAct:EBI-22370853 CCSB ORF ID			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:Q96LY2-2 Q96LY22			0.556	3
UniProt:Q86W67 F228A			0.556	3
UniProt:P0DN76 U2AF5			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:Q8N5R6 CCD33			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:Q9ULR0 ISY1	1	ISY1 [nucleoplasm] (R-HSA-6781963)	0.556	3
UniProt:O15055 PER2	4	PER2 [cytosol] (R-HSA-400399) Ub-p-S-PER2 [cytosol] (R-HSA-517835) p-S-PER2 [nucleoplasm] (R-HSA-3325591) p-S-PER2 [cytosol] (R-HSA-400331)	0.556	3
UniProt:Q9H3P2 NELFA	1	NELFA [nucleoplasm] (R-HSA-112426)	0.556	3
UniProt:P11142 HSPA8	10	HSPA8 [nucleoplasm] (R-HSA-5082380) HSPA8 [lysosomal lumen] (R-HSA-9625182) HSPA8 [secretory granule lumen] (R-HSA-6801530) HSPA8 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane] (R-HSA-888599) HSPA8 [plasma membrane] (R-HSA-936508) HSPA8 [ficolin-1-rich granule lumen] (R-HSA-6801494) Me3K561-HSPA8 [nucleoplasm] (R-HSA-8932217) HSPA8 [late endosome lumen] (R-HSA-9631104) HSPA8 [extracellular region] (R-HSA-6805936) HSPA8 [cytosol] (R-HSA-264476)	0.499	2
UniProt:P38398 BRCA1	20	BRCA1 Y1127Sfs6 [nucleoplasm] (R-HSA-9703780) BRCA1 N555Kfs17 [nucleoplasm] (R-HSA-9703781) BRCA1 M1411T [nucleoplasm] (R-HSA-9702140) BRCA1 P897Kfs5 [nucleoplasm] (R-HSA-9703782) SUMO2,3-BRCA1 [nucleoplasm] (R-HSA-2997624) BRCA1 L1407P [nucleoplasm] (R-HSA-9702135) BRCA1 V83Cfs2 [nucleoplasm] (R-HSA-9703800) BRCA1 M1400V [nucleoplasm] (R-HSA-9701202) BRCA1 S886Cfs16 [nucleoplasm] (R-HSA-9703802) BRCA1 V340Gfs6 [nucleoplasm] (R-HSA-9703804) BRCA1 G813Dfs2 [nucleoplasm] (R-HSA-9703549) BRCA1 S1009 [nucleoplasm] (R-HSA-9702755) BRCA1 Y777* [nucleoplasm] (R-HSA-9702765) BRCA1 T464Pfs11 [nucleoplasm] (R-HSA-9703807) SUMO1-K109-BRCA1 [nucleoplasm] (R-HSA-2997644) BRCA1 S864 [nucleoplasm] (R-HSA-9702752) BRCA1 W372* [nucleoplasm] (R-HSA-9702768) BRCA1 Y655* [nucleoplasm] (R-HSA-9702769) BRCA1 S451* [nucleoplasm] (R-HSA-9702754) BRCA1 P724Lfs*12 [nucleoplasm] (R-HSA-9703778)	0.483	2

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