Protein Description

Gene Symbol MLH1
Entrez ID 4292
Uniprot ID P40692
Description mutL homolog 1
Chromosomal Location chr3: 36,993,332-37,050,918
Ontology GO ID GO Term Definition Evidence

BP

GO:0000289

nuclear-transcribed mRNA poly(A) tail shortening

Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length.

IEA

BP

GO:0000712

resolution of meiotic recombination intermediates

The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged.

IEA

BP

GO:0006298

mismatch repair

A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.

IGI|TAS

BP

GO:0006303

double-strand break repair via nonhomologous end joining

The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.

IEA

BP

GO:0007060

male meiosis chromosome segregation

The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a male.

IEA

BP

GO:0007129

synapsis

The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete.

IEA

BP

GO:0007283

spermatogenesis

The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis.

IEA

BP

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.

IEA

BP

GO:0016321

female meiosis chromosome segregation

The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female.

IEA

BP

GO:0016446

somatic hypermutation of immunoglobulin genes

Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins.

IBA

BP

GO:0043060

meiotic metaphase I plate congression

The alignment of chromosomes at the metaphase plate, a plane halfway between the poles of the meiotic spindle, during meiosis I.

IEA

BP

GO:0045141

meiotic telomere clustering

The cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body. This plays an important role in progression through meiosis and precedes synapsis.

IEA

BP

GO:0045190

isotype switching

The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus.

IEA

BP

GO:0045950

negative regulation of mitotic recombination

Any process that inhibits or decreases the rate of DNA recombination during mitosis.

IEA

BP

GO:0048477

oogenesis

The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.

IEA

BP

GO:0051257

meiotic spindle midzone assembly

The formation of the spindle midzone, the area in the center of the spindle where the spindle microtubules from opposite poles overlap, as a part of the process of meiosis.

IEA

CC

GO:0000795

synaptonemal complex

A proteinaceous scaffold found between homologous chromosomes during meiosis.

IBA

CC

GO:0001673

male germ cell nucleus

The nucleus of a male germ cell, a reproductive cell in males.

IEA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IC

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

IDA|TAS

CC

GO:0005712

chiasma

A connection formed between chromatids, visible during meiosis, thought to be the point of the interchange involved in crossing-over.

IBA

CC

GO:0016020

membrane

A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

IDA

CC

GO:0032389

MutLalpha complex

A heterodimer involved in the recognition of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MLH1 and PMS2.

IBA

MF

GO:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IEA

MF

GO:0003697

single-stranded DNA binding

Interacting selectively and non-covalently with single-stranded DNA.

IDA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0005524

ATP binding

Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

IEA

MF

GO:0016887

ATPase activity

Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction.

IBA

MF

GO:0032137

guanine/thymine mispair binding

Interacting selectively and non-covalently with double-stranded DNA containing a G/T mispair.

IEA

MF

GO:0032407

MutSalpha complex binding

Interacting selectively and non-covalently with the mismatch repair complex MutSalpha.

IDA

Domain ID Description

IPR002099

DNA mismatch repair protein family

IPR003594

Histidine kinase-like ATPase, C-terminal domain

IPR013507

DNA mismatch repair protein, C-terminal

IPR014721

Ribosomal protein S5 domain 2-type fold, subgroup

IPR014762

DNA mismatch repair, conserved site

IPR020568

Ribosomal protein S5 domain 2-type fold

IPR032189

DNA mismatch repair protein Mlh1, C-terminal

Pathway ID Pathway Term Pathway Source

hsa01524

Platinum drug resistance

KEGG

hsa03430

Mismatch repair

KEGG

hsa03460

Fanconi anemia pathway

KEGG

hsa05200

Pathways in cancer

KEGG

hsa05210

Colorectal cancer

KEGG

hsa05213

Endometrial cancer

KEGG

WP34

Ovarian Infertility Genes

WikiPathways

WP531

Mismatch repair

WikiPathways

UMLS CUI UMLS Term

C0009404

Colorectal Neoplasms

C0009405

Hereditary Nonpolyposis Colorectal Neoplasms

C0024299

Lymphoma

C0027627

Neoplasm Metastasis

C0027672

Neoplastic Syndromes, Hereditary

C0033578

Prostatic Neoplasms

C0919267

Ovarian Neoplasm

C1321489

Torre-Muir Syndrome

C1333990

Hereditary Nonpolyposis Colorectal Cancer

C1333991

Hereditary Non-Polyposis Colon Cancer Type 2

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

appendix

lymphoid tissue

bronchus

respiratory epithelial cells

cerebellum

Purkinje cells

cerebral cortex

neuronal cells

cervix, uterine

glandular cells

cervix, uterine

squamous epithelial cells

colon

endothelial cells

colon

glandular cells

duodenum

glandular cells

endometrium

glandular cells

epididymis

glandular cells

esophagus

squamous epithelial cells

fallopian tube

glandular cells

gallbladder

glandular cells

heart muscle

myocytes

hippocampus

neuronal cells

kidney

cells in glomeruli

kidney

cells in tubules

nasopharynx

respiratory epithelial cells

oral mucosa

squamous epithelial cells

pancreas

exocrine glandular cells

placenta

decidual cells

rectum

glandular cells

salivary gland

glandular cells

small intestine

glandular cells

smooth muscle

smooth muscle cells

spleen

cells in red pulp

spleen

cells in white pulp

stomach

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

thyroid gland

glandular cells

tonsil

germinal center cells

tonsil

non-germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

vagina

squamous epithelial cells

No databases found.

Pubmed ID Author Year Title

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

23824412

Piltonen et al.

2013

Mesenchymal Stem/Progenitors and Other Endometrial Cell Types From Women With Polycystic Ovary Syndrome (PCOS) Display Inflammatory and Oncogenic Potential

Gene Symbol Entrez ID Uniprot ID Score

ALDOB

229

P05062

0.49

SPTBN2

6712

O15020

0.49

XPA

7507

P23025

0.49

ZNF224

7767

Q9NZL3

0.49

USP5

8078

P45974

0.49

API5

8539

Q9BZZ5

0.49

FRAT2

23401

O75474

0.49

TRMO

51531

Q9BU70

0.49

STX17

55014

P56962

0.49

CCDC180

100499483

Q9P1Z9

0.49

ATM

472

Q13315

0.55

RFC1

5981

P35251

0.55

ACO2

50

Q99798

0.63

ACTG2

72

P63267

0.63

AP2B1

163

P63010

0.63

ALDOA

226

P04075

0.63

ANXA6

309

P08133

0.63

APRT

353

P07741

0.63

ARAF

369

P10398

0.63

TRIM23

373

P36406

0.63

ASS1

445

P00966

0.63

CAPN5

726

O15484

0.63

VPS51

738

Q9UID3

0.63

CKB

1152

P12277

0.63

CLIC1

1192

O00299

0.63

COPA

1314

P53621

0.63

ATF2

1386

P15336

0.63

EEF1G

1937

P26641

0.63

EEF2

1938

P13639

0.63

FLNB

2317

O75369

0.63

FLNC

2318

Q14315

0.63

GSTP1

2950

P09211

0.63

HSD17B3

3293

P37058

0.63

IGKC

3514

P01834

0.63

LGALS4

3960

P56470

0.63

MUC2

4583

Q02817

0.63

MYL6

4637

P60660

0.63

MYOG

4656

P15173

0.63

NCF4

4689

Q15080

0.63

NDUFS8

4728

O00217

0.63

NONO

4841

Q15233

0.63

SERPINF1

5176

P36955

0.63

MAP2K6

5608

P52564

0.63

PSMA1

5682

P25786

0.63

PTGDS

5730

P41222

0.63

PTPRH

5794

Q9HD43

0.63

RAD23B

5887

P54727

0.63

RPS2

6187

P15880

0.63

RPS5

6193

P46782

0.63

RPS16

6217

P62249

0.63

RRBP1

6238

Q9P2E9

0.63

TAGLN

6876

Q01995

0.63

ABHD16A

7920

O95870

0.63

PTP4A2

8073

Q12974

0.63

PLPP2

8612

O43688

0.63

VAMP8

8673

Q9BV40

0.63

ABCC3

8714

O15438

0.63

FCGBP

8857

Q9Y6R7

0.63

SQSTM1

8878

Q13501

0.63

SELENBP1

8991

Q13228

0.63

NDRG1

10397

Q92597

0.63

ZER1

10444

Q7Z7L7

0.63

AGR2

10551

O95994

0.63

CKAP4

10970

Q07065

0.63

EXOC3

11336

O60645

0.63

GABARAP

11337

O95166

0.63

UBOX5

22888

O94941

0.63

TRIM29

23650

Q14134

0.63

TXN2

25828

Q99757

0.63

SEC61A1

29927

P61619

0.63

RAPGEFL1

51195

Q9UHV5

0.63

DDX47

51202

Q9H0S4

0.63

CUTA

51596

O60888

0.63

IL20RA

53832

Q9UHF4

0.63

NDFIP2

54602

Q9NV92

0.63

ELP6

54859

Q0PNE2

0.63

ACER3

55331

Q9NUN7

0.63

STAP2

55620

Q9UGK3

0.63

PARVA

55742

Q9NVD7

0.63

FASTKD5

60493

Q7L8L6

0.63

ELMO2

63916

Q96JJ3

0.63

PARP12

64761

Q9H0J9

0.63

SLC25A23

79085

Q9BV35

0.63

CAB39L

81617

Q9H9S4

0.63

EIF2A

83939

Q9BY44

0.63

FBXO32

114907

Q969P5

0.63

NT5C3B

115024

Q969T7

0.63

FRMD6

122786

Q96NE9

0.63

TPRG1L

127262

Q5T0D9

0.63

PCNA

5111

P12004

0.70

ATP5A1

498

P25705

0.72

CAPZA2

830

P47755

0.72

LYST

1130

Q99698

0.72

CTTN

2017

Q14247

0.72

HDLBP

3069

Q00341

0.72

KPNB1

3837

Q14974

0.72

PIK3C2A

5286

O00443

0.72

PPP2R1A

5518

P30153

0.72

PPP2R2A

5520

P63151

0.72

PPP2R2B

5521

Q00005

0.72

PPP3CB

5532

P16298

0.72

PPP3CC

5533

P48454

0.72

PRKDC

5591

P78527

0.72

PYGB

5834

P11216

0.72

SLC25A1

6576

P53007

0.72

SMC1A

8243

Q14683

0.72

RUVBL1

8607

Q9Y265

0.72

PSMD6

9861

Q15008

0.72

UBAP2L

9898

Q14157

0.72

RUVBL2

10856

Q9Y230

0.72

PSD3

23362

Q9NYI0

0.72

FKBP8

23770

Q14318

0.72

XRN1

54464

Q8IZH2

0.72

INO80

54617

Q9ULG1

0.72

ATAD3A

55210

Q9NVI7

0.72

PLXNA3

55558

P51805

0.72

PPP2R2D

55844

Q66LE6

0.72

YLPM1

56252

P49750

0.72

WDR61

80349

Q9GZS3

0.72

ATAD3B

83858

Q5T9A4

0.72

DOCK7

85440

Q96N67

0.72

NANP

140838

Q8TBE9

0.72

AMOT

154796

Q4VCS5

0.72

ZC3H11A

9877

O75152

0.73

ANXA2

302

P07355

0.78

CTSB

1508

P07858

0.78

DES

1674

P17661

0.78

FAN1

22909

Q9Y2M0

0.83

KPNA2

3838

P52292

0.86

AIFM1

9131

O95831

0.86

BRCA1

672

P38398

0.88

SPTAN1

6709

Q13813

0.88

TMSB4X

7114

P62328

0.88

BRIP1

83990

Q9BX63

0.90

MSH3

4437

P20585

0.93

BAAT

570

Q14032

0.49

BARD1

580

Q99728

0.49

CTSV

1515

O60911

0.49

CYLC2

1539

Q14093

0.49

SMAD1

4086

Q15797

0.49

TDRD7

23424

Q8NHU6

0.49

LEF1

51176

Q9UJU2

0.49

RAD9A

5883

Q99638

0.52

MRE11A

4361

P49959

0.55

NBN

4683

O60934

0.55

RAD50

10111

Q92878

0.55

PPP2CB

5516

P62714

0.56

BACH1

571

O14867

0.63

FANCD2

2177

Q9BXW9

0.63

HMGB1

3146

P09429

0.63

NTRK1

4914

P04629

0.63

TXN

7295

P10599

0.63

SNW1

22938

Q13573

0.63

MMS19

64210

Q96T76

0.63

SPRTN

83932

Q9H040

0.63

CASP3

836

P42574

0.65

ORC4

5000

O43929

0.65

CXorf57

55086

Q6NSI4

0.73

SPERT

220082

Q8NA61

0.73

POLH

5429

Q9Y253

0.75

FSCN1

6624

Q16658

0.76

ACTG1

71

P63261

0.78

MYC

4609

P01106

0.79

MLH3

27030

Q9UHC1

0.82

MSH6

2956

P52701

0.87

MSH4

4438

O15457

0.88

MBD4

8930

O95243

0.88

MSH2

4436

P43246

0.89

BLM

641

P54132

0.90

PMS1

5378

P54277

0.90

EXO1

9156

Q9UQ84

0.90

PMS2

5395

P54278

0.99