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 Papadopoulos, N, Nicolaides, NC, Wei, YF, Ruben, SM, Carter, KC, Rosen, CA, Haseltine, WA, Fleischmann, RD, Fraser, CM, Adams, MD	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 Unknown

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

0001400064

11717635_a_at

11756036_x_at

11760865_at

13294

16938899

1850_at

202520_s_at

2616933

2616934

2616935

2616936

2616937

2616938

2616941

2616942

2616944

2616946

2616947

2616948

2616949

2616950

2616951

2616958

2616963

2616967

2616968

2616969

2616970

2616971

2616972

2616976

2616977

2616980

2616982

2616985

2616986

3RBN

4292

4P7A

52707

5U5P

60714

70868

8078544

A0A024R2S9

A_14_P105437

A_14_P110897

A_23_P69058

A_33_P3419720

AAA17374

AAA82079

AAA85687

AAC50285

AAH06850

AAO22994

AC006583

AC011816

AF001359_f_at

AK295359

AK298324

AK298583

AK316074

AK316264

AY217549

BAG58325

BAG60576

BAG60773

BAH14445

BAH14635

BC006850

C9JZ54

CAB013294

CAB070868

CCDS2663

CCDS54562

CCDS54563

CH471055

E7EUC9

E9PF25

EAW64483

EAW64484

ENSG00000076242

ENSP00000231790

ENSP00000398272

ENSP00000402564

ENSP00000402667

ENSP00000416687

ENSP00000443665

ENSP00000444286

ENST00000231790

ENST00000231790.6

ENST00000435176

ENST00000435176.5

ENST00000455445

ENST00000455445.6

ENST00000456676

ENST00000458205

ENST00000458205.6

ENST00000536378

ENST00000536378.5

ENST00000539477

ENST00000539477.5

EntrezGene:4292

EntrezGene:MLH1

F2Z298

g4557756_3p_s_at

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:0005623

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

H0Y4N0

H0Y806

HGNC:7127

HPA052707

HPA060714

ILMN_1788363

IPR002099

IPR013507

IPR014721

IPR014762

IPR020568

IPR032189

IPR036890

IPR038973

LRG_216

LRG_216t1

MIM:120436

MIM:158320

MIM:276300

MIM:609310

MLH1

MLH1-201

MLH1-206

MLH1-212

MLH1-216

MLH1-221

MLH1-222

NM_000249

NM_001167617

NM_001167618

NM_001167619

NM_001258273

NM_001258274

NM_001354615

NM_001354616

NM_001354617

NM_001354618

NM_001354619

NM_001354620

NM_001354621

NM_001354622

NM_001354623

NM_001354624

NM_001354625

NM_001354626

NM_001354627

NM_001354628

NM_001354629

NM_001354630

NP_000240

NP_001161089

NP_001161090

NP_001161091

NP_001245202

NP_001245203

NP_001341544

NP_001341545

NP_001341546

NP_001341547

NP_001341548

NP_001341549

NP_001341550

NP_001341551

NP_001341552

NP_001341553

NP_001341554

NP_001341555

NP_001341556

NP_001341557

NP_001341558

NP_001341559

PF01119

PF13589

PF16413

PH_hs_0020137

SM01340

TC03000175.hg

U07343

U07418

U07418_at

U17839

U17840

U17841

U17842

U17843

U17844

U17845

U17846

U17847

U17848

U17849

U17851

U17852

U17853

U17854

U17855

U17856

U17857

U40960

U40961

U40962

U40963

U40964

U40965

U40966

U40967

U40968

U40969

U40970

U40971

U40972

U40973

U40974

U40975

U40976

U40977

U40978

UPI0000000C7E

UPI0000EE29B4

UPI000198CA43

XM_005265161

XM_017006450

XP_005265218

XP_016861939

Participant Of

hasMember

MLH1 Variants [nucleoplasm]

Other forms of this molecule

MLH1 [nucleoplasm]

MLH1 H329P [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	9256

Cross References

RefSeq

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

OpenTargets

ENSG00000076242

GeneCards

P40692

PRO

P40692

Orphanet

16407

PDB

5U5P, 3RBN, 4P7A

Interactors (71)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P54278 PMS2	3	PMS2 R628* [nucleoplasm] (R-HSA-5632980) PMS2 R134* [nucleoplasm] (R-HSA-5632982) PMS2 [nucleoplasm] (R-HSA-5357527)	0.939	13
UniProt:P15173 MYOG	1	MYOG [nucleoplasm] (R-HSA-445160)	0.841	10
UniProt:Q6NSI4 RADX			0.817	7
UniProt:Q9BX63 BRIP1	2	p-S990,Ac-K1249-BRIP1 [nucleoplasm] (R-HSA-5687710) BRIP1 [cytosol] (R-HSA-2564781)	0.807	14
UniProt:Q8NA61-2 SPERT			0.781	9
UniProt:P63010-2 AP2B1			0.781	7
UniProt:P52292 KPNA2	2	KPNA2 [nucleoplasm] (R-HSA-206045) KPNA2 [cytosol] (R-HSA-205976)	0.764	7
UniProt:Q8NA61 SPERT			0.742	5
UniProt:P62328 TMSB4X	2	TMSB4X [platelet alpha granule lumen] (R-HSA-349758) TMSB4X [extracellular region] (R-HSA-349753)	0.733	16
UniProt:O75152 ZC3H11A	1	ZC3H11A [nucleoplasm] (R-HSA-8850659)	0.712	4
UniProt:O94941 UBOX5	1	UBOX5 [cytosol] (R-HSA-976034)	0.712	4
UniProt:Q5VWN6 TASO2			0.696	5
IntAct:EBI-11522976 CCDC33			0.696	5
UniProt:P43361 MAGA8			0.696	5
UniProt:P25786 PSMA1	2	PSMA1 [cytosol] (R-HSA-68724) PSMA1 [nucleoplasm] (R-HSA-174333)	0.666	4
UniProt:P20585 MSH3	2	MSH3 [nucleoplasm] (R-HSA-5357519) MSH3 414TER [nucleoplasm] (R-HSA-5578664)	0.666	4
UniProt:Q96NE9-2 FRMD6			0.621	3
UniProt:P17661 DES	1	DES [cytosol] (R-HSA-390570)	0.602	7
UniProt:P63261 ACTG1	3	ACTG1 [cytosol] (R-HSA-201858) ACTG1 [lysosomal membrane] (R-HSA-196169) ACTG1 [plasma membrane] (R-HSA-196044)	0.602	7
UniProt:P07858 CTSB	6	CTSB(129-333) [extracellular region] (R-HSA-2471625) CTSB(80-333) [lysosomal lumen] (R-HSA-1181222) 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	7
UniProt:P07355 ANXA2	4	ANXA2 [extracellular region] (R-HSA-6806242) ANXA2 [azurophil granule lumen] (R-HSA-6798766) ANXA2 [external side of plasma membrane] (R-HSA-5336164) ANXA2 [cytosol] (R-HSA-5263667)	0.602	7
UniProt:Q13813 SPTAN1	6	SPTAN1 [extracellular region] (R-HSA-6806322) SPTAN1 [specific granule lumen] (R-HSA-6799533) SPTAN1 [tertiary granule lumen] (R-HSA-6800874) SPTAN1(1186-2472) [cytosol] (R-HSA-202964) SPTAN1(1-1185) [cytosol] (R-HSA-202944) SPTAN1 [cytosol] (R-HSA-201601)	0.602	7
UniProt:Q16658 FSCN1	1	FSCN1 [cytosol] (R-HSA-6789835)	0.597	7
UniProt:P42843 SKP2			0.556	3
UniProt:Q96NE9 FRMD6			0.553	2
UniProt:P38398 BRCA1	5	SUMO1-K109-BRCA1 [nucleoplasm] (R-HSA-2997644) SUMO2,3-BRCA1 [nucleoplasm] (R-HSA-2997624) p-S988,S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm] (R-HSA-5683800) BRCA1 [nucleoplasm] (R-HSA-50949) p-S1387,S1423,S1524,S1547-BRCA1 [nucleoplasm] (R-HSA-75234)	0.527	2
UniProt:P11142 HSPA8	10	HSPA8 [plasma membrane] (R-HSA-936508) Me3K561-HSPA8 [nucleoplasm] (R-HSA-8932217) HSPA8 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane] (R-HSA-888599) 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 [late endosome lumen] (R-HSA-9631104) HSPA8 [lysosomal lumen] (R-HSA-9625182) HSPA8 [cytosol] (R-HSA-264476)	0.499	2
UniProt:Q10567-3 AP1B1			0.488	2
UniProt:Q96PP4 TSG13			0.488	2
IntAct:EBI-17189293 AL513477.1			0.488	2
UniProt:Q6PF18 MORN3			0.488	2
UniProt:Q5T749 KPRP			0.488	2
UniProt:Q7Z6R9 TFAP2D	1	TFAP2D [nucleoplasm] (R-HSA-5626817)	0.488	2
UniProt:Q96GN5 CDA7L			0.488	2
UniProt:P78356-2 PIP4K2B			0.488	2
IntAct:EBI-18396922 H7C1N6			0.488	2
UniProt:Q9Y247 FA50B			0.488	2
UniProt:Q86YD7 F90A1			0.488	2
IntAct:EBI-11985505 KPNA5			0.488	2
UniProt:Q9UDV6 ZNF212	1	ZNF212 [nucleoplasm] (R-HSA-1027348)	0.488	2
UniProt:Q9NU63-3 ZFP57			0.488	2
UniProt:Q9H0I2 ENKD1			0.488	2
UniProt:Q8WWY6 MB3L1			0.488	2
UniProt:O76039 CDKL5			0.488	2
UniProt:P29372-4 MPG			0.488	2
UniProt:Q8TF47 ZFP90	1	ZFP90 [nucleoplasm] (R-HSA-974988)	0.488	2
UniProt:Q08117-2 TLE5			0.488	2
UniProt:Q8IX06 GOR			0.488	2
UniProt:P60323-2 P603232			0.488	2
UniProt:O95243-2 MBD4			0.488	4
UniProt:Q5RL73 RBM48			0.488	2
UniProt:Q6S9Z5 ZN474			0.488	2
UniProt:Q86UC2 RSPH3			0.488	2
UniProt:Q9H3P2 NELFA	1	NELFA [nucleoplasm] (R-HSA-112426)	0.488	2
UniProt:Q9UDW3 ZMAT5	1	ZMAT5 [nucleoplasm] (R-HSA-6787850)	0.488	2
UniProt:Q86W67 F228A			0.488	2
UniProt:P0DN76 U2AF5			0.488	2
UniProt:O95232-2 O952322			0.488	2
UniProt:Q6MZQ0 PRR5L			0.488	2
UniProt:Q14938-5 NFIX			0.488	2
IntAct:EBI-13352787 FAN1			0.488	2
UniProt:Q9BX70 BTBD2			0.488	2
UniProt:O00746 NME4	1	NME4 [mitochondrial inner membrane] (R-HSA-60026)	0.488	2
UniProt:Q96KQ4 PPP1R13B	1	PPP1R13B [nucleoplasm] (R-HSA-6799775)	0.488	2
UniProt:Q5JTZ5 CI152			0.488	2
IntAct:EBI-11957111 SP3P			0.488	2
UniProt:Q6NX45 ZNF774	1	ZNF774 [nucleoplasm] (R-HSA-3110232)	0.488	2
UniProt:P26045 PTPN3	1	PTPN3 [plasma membrane] (R-HSA-5490317)	0.488	2
UniProt:Q9NQV7 PRDM9	1	PRDM9 [nucleoplasm] (R-HSA-912345)	0.488	2
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)	0.488	2
UniProt:Q9ULR0 ISY1	1	ISY1 [nucleoplasm] (R-HSA-6781963)	0.488	2