HUMAN:MLH1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MLH1 (synonyms: COCA2)
Protein Name(s)	DNA mismatch repair protein Mlh1 MutL protein homolog 1
External Links
UniProt	P40692
EMBL	U07343 U07418 U40978 U40960 U40961 U40962 U40963 U40964 U40965 U40966 U40967 U40968 U40969 U40970 U40971 U40972 U40973 U40974 U40975 U40976 U40977 U17857 U17839 U17840 U17841 U17842 U17843 U17844 U17845 U17846 U17847 U17848 U17849 U17851 U17852 U17853 U17854 U17855 U17856 AY217549 AK295359 AK298324 AK298583 AK316074 AK316264 AC006583 AC011816 CH471055 BC006850
CCDS	CCDS2663.1 CCDS54562.1 CCDS54563.1
PIR	S43085
RefSeq	NP_000240.1 NP_001161089.1 NP_001161090.1 NP_001161091.1 NP_001245200.1 NP_001245202.1 NP_001245203.1 XP_005265220.1 XP_005265221.1
UniGene	Hs.195364
PDB	3NA3 3RBN 4P7A
PDBsum	3NA3 3RBN 4P7A
ProteinModelPortal	P40692
SMR	P40692
BioGrid	110438
DIP	DIP-27601N
IntAct	P40692
MINT	MINT-257265
STRING	9606.ENSP00000231790
PhosphoSite	P40692
DMDM	730028
MaxQB	P40692
PaxDb	P40692
PRIDE	P40692
DNASU	4292
Ensembl	ENST00000231790 ENST00000435176 ENST00000455445 ENST00000458205 ENST00000536378 ENST00000539477
GeneID	4292
KEGG	hsa:4292
UCSC	uc003cgl.3 uc010hgk.3
CTD	4292
GeneCards	GC03P037034
GeneReviews	MLH1
HGNC	HGNC:7127
HPA	CAB013294 HPA052707
MIM	120436 158320 276300 608089 609310
neXtProt	NX_P40692
Orphanet	252202 144 587 99817
PharmGKB	PA240
eggNOG	COG0323
GeneTree	ENSGT00550000074923
HOGENOM	HOG000176000
HOVERGEN	HBG006374
InParanoid	P40692
KO	K08734
OMA	RYSIHNA
OrthoDB	EOG7MSMNH
PhylomeDB	P40692
TreeFam	TF300493
Reactome	REACT_228019 REACT_228145 REACT_27271
ChiTaRS	MLH1
EvolutionaryTrace	P40692
GeneWiki	MLH1
GenomeRNAi	4292
NextBio	16893
PMAP-CutDB	P40692
PRO	PR:P40692
Proteomes	UP000005640
Bgee	P40692
CleanEx	HS_MLH1
ExpressionAtlas	P40692
Genevestigator	P40692
GO	GO:0005712 GO:0001673 GO:0016020 GO:0032389 GO:0005634 GO:0000795 GO:0005524 GO:0016887 GO:0032137 GO:0006200 GO:0006303 GO:0008630 GO:0045190 GO:0007060 GO:0043060 GO:0051257 GO:0006298 GO:0045950 GO:0000289 GO:0048477 GO:0000712 GO:0016446 GO:0007283 GO:0007129
Gene3D	3.30.230.10 3.30.565.10
InterPro	IPR013507 IPR014762 IPR002099 IPR011186 IPR003594 IPR020568 IPR014721
PANTHER	PTHR10073:SF12
Pfam	PF01119
SMART	SM00387
SUPFAM	SSF54211 SSF55874
TIGRFAMs	TIGR00585
PROSITE	PS00058

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0003682	chromatin binding	PMID:26300262^[1]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:26300262^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	PMID:26300262^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9NXL9	F	Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	PMID:26300262^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9UJA3	F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
contributes_to	GO:0032407	MutSalpha complex binding	PMID:16403449^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:11809883^[4]	ECO:0000305	curator inference used in manual assertion	GO:0003697	C	Seeded From UniProt	complete
contributes_to	GO:0003697	single-stranded DNA binding	PMID:11809883^[4]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0032389	MutLalpha complex	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:101938 PANTHER:PTN000008164 SGD:S000004777	C	Seeded From UniProt	complete
part_of	GO:0032300	mismatch repair complex	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG11281 MGI:MGI:1353455 PANTHER:PTN000008161	C	Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG11281 PANTHER:PTN000008161 SGD:S000004777 SGD:S000005026 UniProtKB:Q8IIJ0	F	Seeded From UniProt	complete
involved_in	GO:0016446	somatic hypermutation of immunoglobulin genes	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:101938 PANTHER:PTN000008172	P	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG11281 MGI:MGI:101938 MGI:MGI:104288 MGI:MGI:1202302 MGI:MGI:1353455 PANTHER:PTN000008161 PomBase:SPAC19G12.02c SGD:S000004025 SGD:S000004777 SGD:S000005026 SGD:S000006085 TAIR:locus:2133274 UniProtKB:P40692 UniProtKB:P54278	P	Seeded From UniProt	complete
part_of	GO:0005712	chiasma	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:101938 PANTHER:PTN000008164	C	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:23603115^[6]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P52701	P	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:23603115^[6]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P43246	P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0048298	positive regulation of isotype switching to IgA isotypes	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0045950	negative regulation of mitotic recombination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0045190	isotype switching	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0045143	homologous chromosome segregation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0045141	meiotic telomere clustering	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0045132	meiotic chromosome segregation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0043060	meiotic metaphase I plate congression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
part_of	GO:0032389	MutLalpha complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
enables	GO:0032137	guanine/thymine mispair binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	F	Seeded From UniProt	complete
involved_in	GO:0016447	somatic recombination of immunoglobulin gene segments	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0016446	somatic hypermutation of immunoglobulin genes	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0016321	female meiosis chromosome segregation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0009617	response to bacterium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0007283	spermatogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0007140	male meiotic nuclear division	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0007131	reciprocal meiotic recombination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0007129	synapsis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0007060	male meiosis chromosome segregation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0006303	double-strand break repair via nonhomologous end joining	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
part_of	GO:0005715	late recombination nodule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
part_of	GO:0005712	chiasma	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
part_of	GO:0005694	chromosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	F	Seeded From UniProt	complete
involved_in	GO:0002204	somatic recombination of immunoglobulin genes involved in immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
part_of	GO:0001673	male germ cell nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
part_of	GO:0000795	synaptonemal complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
part_of	GO:0000794	condensed nuclear chromosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
part_of	GO:0000793	condensed chromosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	C	Seeded From UniProt	complete
involved_in	GO:0000712	resolution of meiotic recombination intermediates	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0000289	nuclear-transcribed mRNA poly(A) tail shortening	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0051321	meiotic cell cycle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0051257	meiotic spindle midzone assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0048477	oogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
involved_in	GO:0048304	positive regulation of isotype switching to IgG isotypes	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JK91 ensembl:ENSMUSP00000035079	P	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002099 InterPro:IPR013507	F	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002099 InterPro:IPR011186 InterPro:IPR013507 InterPro:IPR038973	P	Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR038973	F	Seeded From UniProt	complete
enables	GO:0030983	mismatched DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002099 InterPro:IPR013507	F	Seeded From UniProt	complete
part_of	GO:0032300	mismatch repair complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011186 InterPro:IPR038973	C	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:8128251^[7] Reactome:R-HSA-5358565	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-6806392 Reactome:R-HSA-5632958 Reactome:R-HSA-5545484 Reactome:R-HSA-5444523 Reactome:R-HSA-5358599 Reactome:R-HSA-5358597 Reactome:R-HSA-5358518 Reactome:R-HSA-5358510	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F	Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0227	P	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0234	P	Seeded From UniProt	complete
involved_in	GO:0007049	cell cycle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0131	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
part_of	GO:0005694	chromosome	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0158 UniProtKB-SubCell:SL-0468	C	Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Traver, S et al. (2015) MCM9 Is Required for Mammalian DNA Mismatch Repair. Mol. Cell 59 831-9 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ Plotz, G et al. (2006) Analysis of the human MutLalpha.MutSalpha complex. Biochem. Biophys. Res. Commun. 340 852-9 PubMed GONUTS page
↑ ^4.0 ^4.1 Plotz, G et al. (2002) hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA. Nucleic Acids Res. 30 711-8 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^6.0 ^6.1 Ghodgaonkar, MM et al. (2013) Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair. Mol. Cell 50 323-32 PubMed GONUTS page
↑ Papadopoulos, N et al. (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263 1625-9 PubMed GONUTS page

[PMID:26300262-1] 1.0 ^1.1 ^1.2 ^1.3 Traver, S et al. (2015) MCM9 Is Required for Mammalian DNA Mismatch Repair. Mol. Cell 59 831-9 PubMed GONUTS page

[PMID:19946888-2] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:16403449-3] Plotz, G et al. (2006) Analysis of the human MutLalpha.MutSalpha complex. Biochem. Biophys. Res. Commun. 340 852-9 PubMed GONUTS page

[PMID:11809883-4] 4.0 ^4.1 Plotz, G et al. (2002) hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA. Nucleic Acids Res. 30 711-8 PubMed GONUTS page

[PMID:21873635-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:23603115-6] 6.0 ^6.1 Ghodgaonkar, MM et al. (2013) Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair. Mol. Cell 50 323-32 PubMed GONUTS page

[PMID:8128251-7] Papadopoulos, N et al. (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263 1625-9 PubMed GONUTS page

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HUMAN:MLH1

Contents

Annotations

Notes

References

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