Endometriosis Knowledgebase

Search Result

Gene id

4292

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MLH1 Gene UCSC Ensembl

Aliases

COCA2, FCC2, HNPCC, HNPCC2, hMLH1

Gene name

mutL homolog 1

Alternate names

DNA mismatch repair protein Mlh1, mutL homolog 1, colon cancer, nonpolyposis type 2,

Gene location

3p22.2 (36993349: 37050845) Exons: 21 NC_000003.12

Gene summary(Entrez)

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

OMIM

120436

Protein Summary

Protein general information

P40692

Name: DNA mismatch repair protein Mlh1 (MutL protein homolog 1)

Length: 756 Mass: 84,601

Tissue specificity: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.

Sequence

MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDI
VCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQI
TVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVS
RELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP
QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMVKSTTSLTSSSTSGSS
DKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGD
TTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREML
HNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE
DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFES
LSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLY
KVFERC

Structural information

Interpro:	IPR013507 IPR014762 IPR002099 IPR003594 IPR032189 IPR020568 IPR014721
Prosite:	PS00058
Pfam:	PF01119 PF16413
PDB:	3RBN 4P7A
PDBsum:	3RBN 4P7A
DIP:	27601
MINT:	257265
STRING:	ENSP00000231790;

Other Databases

GeneCards: MLH1; Malacards: MLH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000289	nuclear-transcribed mRNA poly(A) tail shortening	IEA	biological_process
GO:0000712	resolution of meiotic rec ombination intermediates	IEA	biological_process
GO:0000795	synaptonemal complex	IBA	cellular_component
GO:0001673	male germ cell nucleus	IEA	cellular_component
GO:0003682	chromatin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005712	chiasma	IBA	cellular_component
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IEA	biological_process
GO:0007060	male meiosis chromosome s egregation	IEA	biological_process
GO:0007129	synapsis	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	IEA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016321	female meiosis chromosome segregation	IEA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	IBA	biological_process
GO:0016887	ATPase activity	IBA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IEA	molecular_function
GO:0032389	MutLalpha complex	IBA	cellular_component
GO:0043060	meiotic metaphase I plate congression	IEA	biological_process
GO:0045141	meiotic telomere clusteri ng	IEA	biological_process
GO:0045190	isotype switching	IEA	biological_process
GO:0045950	negative regulation of mi totic recombination	IEA	biological_process
GO:0048477	oogenesis	IEA	biological_process
GO:0051257	meiotic spindle midzone a ssembly	IEA	biological_process
GO:0003697	single-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0032407	MutSalpha complex binding	IDA	molecular_function
GO:0000289	nuclear-transcribed mRNA poly(A) tail shortening	IEA	biological_process
GO:0000712	resolution of meiotic rec ombination intermediates	IEA	biological_process
GO:0000793	condensed chromosome	IEA	cellular_component
GO:0000794	condensed nuclear chromos ome	IEA	cellular_component
GO:0000795	synaptonemal complex	IEA	cellular_component
GO:0000795	synaptonemal complex	IBA	cellular_component
GO:0001673	male germ cell nucleus	IEA	cellular_component
GO:0002204	somatic recombination of immunoglobulin genes invo lved in immune response	IEA	biological_process
GO:0003682	chromatin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005694	chromosome	IEA	cellular_component
GO:0005712	chiasma	IEA	cellular_component
GO:0005712	chiasma	IBA	cellular_component
GO:0006281	DNA repair	IEA	biological_process
GO:0006281	DNA repair	IEA	biological_process
GO:0006298	mismatch repair	IEA	biological_process
GO:0006298	mismatch repair	IEA	biological_process
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	IEA	biological_process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological_process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0007060	male meiosis chromosome s egregation	IEA	biological_process
GO:0007126	meiotic nuclear division	IEA	biological_process
GO:0007129	synapsis	IEA	biological_process
GO:0007131	reciprocal meiotic recomb ination	IEA	biological_process
GO:0007140	male meiosis	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	IEA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016321	female meiosis chromosome segregation	IEA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	IBA	biological_process
GO:0016447	somatic recombination of immunoglobulin gene segme nts	IEA	biological_process
GO:0016887	ATPase activity	IBA	molecular_function
GO:0030983	mismatched DNA binding	IEA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IEA	molecular_function
GO:0032389	MutLalpha complex	IEA	cellular_component
GO:0032389	MutLalpha complex	IBA	cellular_component
GO:0043060	meiotic metaphase I plate congression	IEA	biological_process
GO:0045132	meiotic chromosome segreg ation	IEA	biological_process
GO:0045141	meiotic telomere clusteri ng	IEA	biological_process
GO:0045143	homologous chromosome seg regation	IEA	biological_process
GO:0045190	isotype switching	IEA	biological_process
GO:0045950	negative regulation of mi totic recombination	IEA	biological_process
GO:0048477	oogenesis	IEA	biological_process
GO:0051257	meiotic spindle midzone a ssembly	IEA	biological_process
GO:0003697	single-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0032407	MutSalpha complex binding	IDA	molecular_function
GO:0000795	synaptonemal complex	IBA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005712	chiasma	IBA	cellular_component
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016446	somatic hypermutation of immunoglobulin genes	IBA	biological_process
GO:0016887	ATPase activity	IBA	molecular_function
GO:0032389	MutLalpha complex	IBA	cellular_component
GO:0003697	single-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0032407	MutSalpha complex binding	IDA	molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa01524  Platinum drug resistance
hsa05210  Colorectal cancer
hsa05213  Endometrial cancer
hsa03460  Fanconi anemia pathway
hsa03430  Mismatch repair

Diseases

Associated diseases	References
Adenomyosis	PMID: 11078826
Azoospermia	PMID: 22594646
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Colorectal cancer	KEGG: H00020, OMIM: 120436
Crohn's disease	PMID: 9230812
Endometrial cancer	PMID: 21642682
Endometrial cancer	KEGG: H00026
Endometriosis	PMID: 12402310
Impaired spermatogenesis	PMID: 20075417
Inflammatory bowel disease	PMID: 12011151
Male infertility	PMID: 19246465
Maturation arrest (MA)	PMID: 22344730
Muir-Torre syndrome	OMIM: 120436
Oligozoospermia	PMID: 26086992
Ovarian cancer	KEGG: H00027
Ovarian endometriosis	PMID: 21556900
Endometriosis	INFBASE24018808
Ovarian endometriosis	INFBASE21556900
Sertoli cell-only syndrome (SCOS)	PMID: 12569174
Ulcerative colitis	PMID: 19371218

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
12402310	Endometrio sis	46 cases of end ometriosis stag es III and IV	Hmlh1 PTEN	Show abstract
21556900	Endometrio sis (ovari an)	65 (29 cases of the endometrio sis-associated ovarian carcino ma (EAOC) group , 20 cases of E Ms group, 16 c ases of control endometrium (C Es))	hMLH1	Show abstract
24018808	Endometrio sis	67 ovarian endo metrioid adenoc arcinoma(35 ass ociated with en dometriosis, 32 without endome triosis)	Beta-catenin cyclin D1 BAF250a PTEN p53 WT1	Show abstract