MLH1 Gene
protein-coding GIFtS : 71 GCID: GC03 P037034
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type... COCA2 )
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Aliasesfor MLH1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 (E. Coli) 1 2 MutL (E. Coli) Homolog 1 (Colon Cancer, Nonpolyposis Type 2)1 COCA21 2 3 5 DNA Mismatch Repair Protein Mlh12 HNPCC21 2 5 HMLH11 FCC21 2 MutL Protein Homolog 13 HNPCC1 2
Export aliases for MLH1 gene to outside databases Previous GC identifers: GC03P036337 GC03P036848 GC03P036995 GC03P037009 GC03P036976
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Summariesfor MLH1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for MLH1 : 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) UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 Function : Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system(MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis Gene Wiki entry for MLH1
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Genomic Viewsfor MLH1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NC_018914.1 NT_022517.18 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MLH1 gene promoter:CREB SREBP-1a Pax-6 SREBP-1c MyoD MRF-2 AP-2gamma SREBP-1b Other transcription factors Search SABiosciences Chromatin IP Primers for MLH1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3p21.3 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p22.3 MLH1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P037034: view genomic region
(about GC identifiers )
Start: 37,034,823 bp from pter End:
37,107,380 bp from pter
Size: 72,558 bases Orientation:
plus strand
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Proteinsfor MLH1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 See
protein sequence )Recommended Name: Size : 756 amino acids; 84601 DaSubunit : Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms aternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1 and MTMR15/FAN1
Subcellular location : Nucleus2 PDB 3D structures from :3NA3 (3D) 3RBN (3D) Secondary accessions : B4DI13Alternative splicing : 2 isoforms : P40692-1 P40692-2 Explore the universe of human proteins at neXtProt for MLH1: NX_P40692 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P40692 MLH1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (7 alternative transcripts): NP_000240.1 NP_001161089.1 NP_001161090.1 NP_001161091.1 NP_001245200.1 NP_001245202.1 NP_001245203.1 ENSEMBL proteins: ENSP00000231790 ENSP00000407773 ENSP00000416783 ENSP00000387511 ENSP00000392649 ENSP00000416687 ENSP00000402667 ENSP00000398272 ENSP00000402564 ENSP00000398392 ENSP00000407019 ENSP00000399329 ENSP00000411066 ENSP00000400844 ENSP00000393006 ENSP00000416476 ENSP00000444286 ENSP00000443665 Reactome Protein details: P40692 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
About GeneDecksing MLH1 Antibody Products: Assay Products for MLH1:
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Protein
Domains /for MLH1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry P40692 ProtoNet protein and cluster: P40692
1 Blocks protein family : IPB002099 UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 Similarity : Belongs to the DNA mismatch repair MutL/HexB family
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Functionfor MLH1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 Function : Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system(MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis
Genatlas biochemistry entry for MLH1 yeast mutator gene homolog (bacterial mutL),with several spliced isoforms,involved in mismatch repair in non-small cell lung cancer (see TSG3B),deleted in sporadic colorectal cancer or mutated with hypermethylation of the promoter region,in breast cancer and in sporadic endometrial cancer,interacting with NF1 (predisposition to early hematological malignancy) and with PMS2 Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 6 )human mouse rat see all 5 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): MLH1 (NM_000249 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MLH1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MLH1
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLH1
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
About GeneDecksing 3 GenomeRNAi human phenotypes for MLH1 :Animal Models: Mlh1 tm1Lisk Mlh1 tm1Mse Mlh1 tm1Rak 8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mlh1) :About GeneDecksing
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Pathways & Interactionsfor MLH1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/12 super-pathways (see all 12 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Lagging Strand Synthesis 2 Endometrial cancer 3 Meiotic Synapsis 4 Formation of RNA Pol II elongation complex 5 Cell Cycle / Checkpoint Control
Pathway sources See GeneCards unified pathways Show all pathways 1 2 1 1 3 3 2 MLH1 4 (Kegg details for MLH1) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLH1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/736 Interacting proteins for MLH1 (P40692 1 , 2 , 3 ENSP00000231790 4 via UniProtKB, MINT, STRING , and/or I2D (see all 736 )Interactant Interaction Details GeneCard External ID(s) BRIP1 Q9BX63 2 , 3 ENSP00000259008 4 MINT-5115529 MINT-5115470 MINT-5115499 MINT-5115319 MINT-5115375 MINT-5115489 MINT-5115552 MINT-5115348 MINT-5115512 MINT-5115404 MINT-5115429 I2D:
score=2 STRING: ENSP00000259008 PMS2 P54278 1 , 2 , 3 ENSP00000265849 4 EBI-744248,EBI-1162561 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 I2D:
score=14 STRING: ENSP00000265849 SPTAN1 Q13813 1 , 2 , 3 EBI-744248,EBI-351450 MINT-7945693 I2D:
score=2 BRCA1 P38398 2 , 3 ENSP00000350283 4 MINT-5115348 MINT-5115319 MINT-5115375 MINT-5115552 MINT-8141024 I2D:
score=3 STRING: ENSP00000350283 TRIM29 Q14134 2 , 3 ENSP00000343129 4 MINT-66539 I2D:
score=5 STRING: ENSP00000343129
About this table Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000239 pachytene
IEA -- GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening
IEA -- GO:0000712 resolution of meiotic recombination intermediates
IEA -- GO:0001666 response to hypoxia
-- -- GO:0002204 somatic recombination of immunoglobulin genes involved in immune response
-- --
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Drugs & Compoundsfor MLH1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for MLH1 10/65 Novoseek chemical compound relationships for MLH1 gene (see all 65 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
mononucleotide
85.1
19
17504984 (2), 10675487 (1), 12479849 (1), 10674020 (1) (see all 17 )
crcs
84.7
35
15294875 (3), 18257912 (3), 15749592 (2), 18618713 (2) (see all 20 )
mhs-2
73.8
2
9616736 (1), 7576988 (1)
o6-methylguanine
63.7
15
17276933 (2), 16436636 (1), 19047896 (1), 14633667 (1) (see all 14 )
5-aza-2'deoxycytidine
56.2
40
19306077 (4), 11085525 (4), 19742343 (4), 12794758 (3) (see all 12 )
6 thioguanine
50.2
19
9485033 (4), 9973196 (2), 19603033 (2), 9233776 (1) (see all 8 )
temozolomide
44.3
7
11138465 (2), 14985452 (2), 19741564 (1), 14585987 (1)
sodium bisulfite
43.3
2
11798868 (1), 15342451 (1)
mnng
41.9
15
9750018 (4), 7641183 (3), 8044777 (1), 16085492 (1)
paraffin
35.7
13
15881919 (1), 11376026 (1), 11788563 (1), 12400605 (1) (see all 12 )
MLH1
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Transcriptsfor MLH1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for MLH1 gene (7 alternative transcripts): NM_000249.3 NM_001167617.1 NM_001167618.1 NM_001167619.1 NM_001258271.1 NM_001258273.1 NM_001258274.1 Unigene Cluster for MLH1:
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) Hs.195364 [show with all ESTs ] Unigene Representative Sequence: NM_000249 18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22 ): ENST00000231790 (uc003cgl.3 uc011ayb.2 uc010hge.3 ) ENST00000457004 ENST00000432299 ENST00000442249 ENST00000454028 ENST00000456676 (uc010hgg.1 uc010hgh.1 uc010hgi.1 uc010hgj.1 uc010hgl.1 )ENST00000458205 (uc011ayc.2 uc011ayd.2 uc003cgo.3 uc003cgn.4 uc010hgk.3 uc010hgn.3 uc010hgm.3 uc010hgo.3 uc010hgp.3 uc010hgq.3 )ENST00000476172 ENST00000455445 ENST00000435176 ENST00000441265 ENST00000492474 ENST00000429117 ENST00000466900 ENST00000485889 ENST00000447829 ENST00000458009 ENST00000413212 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 6 )human mouse rat see all 5 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): MLH1 (NM_000249 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MLH1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MLH1
Additional cDNA sequence: AB209848.1 AK222810.1 AK295359.1 AK298324.1 AK298583.1 AK302807.1 AK311326.1 AK311365.1 AK312609.1 AK316074.1 AK316264.1 AY517558.1 BC006850.1 BX648844.1 DQ648888.1 DQ648889.1 DQ648890.1 DQ648891.1 DQ648892.1 DQ648893.1 EU188665.1 EU188666.1 EU188667.1 EU188668.1 EU188669.1 EU188670.1 EU188671.1 EU188672.1 EU188673.1 EU188674.1 EU188675.1 EU188676.1 U07343.1 U07418.1
20 DOTS entries : DT.445647 DT.100810259
DT.100810263 DT.95333713 DT.100810264 DT.101980402 DT.100028705 DT.100761169 DT.120922994 DT.92442427 DT.99999999 DT.120923036 DT.92442423 DT.97846810 DT.100760267 DT.100810256 DT.95156564 DT.100742075 DT.91798978 DT.99993535 24/278 AceView cDNA sequences (see all 278 ):
BQ013371 BM824387 BI090482 AA343535 CF147121 AI276652 BI858386 CB990350 BU621288 CR617505 AL531062 CN485008 BU176348 AI338208 U07418 BU735633 BM998444 BU621310 BM709021 CA944649 BM459100 AU134539 BX098613 CB155128 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MLH1 (see all 9 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ SP1 : - - - SP2 : - - - - - SP3 : - - - - - SP4 : - SP5 : - - - -
ExUns: 20 ^ 21a · 21b ^ 22a · 22b SP1 : SP2 : SP3 : - - - SP4 : SP5 :
ECgene alternative splicing isoforms for MLH1
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Expression for MLH1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section MLH1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CTTGCCTTAG
About this image MLH1 expression in embryonic tissues and stem cells About this table 1 LifeMap In Vivo Development Anatomical Compartment/CellTissue Category (developmental path) Testis Seminiferous Tubules Primary Spermatocyte Germ Cells, Male Gametocytes Expression: Experimental details:
In-situ hybridization
See MLH1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MLH1 SOURCE GeneReport for Unigene cluster: Hs.195364 UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 Tissue specificity : Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heartSABiosciences Expression via Pathway-Focused PCR Arrays including MLH1 (see all 9 ): Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLH1
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Orthologsfor MLH1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for MLH1 gene from 10/37 species (see all 37 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves MLH11
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. more
73.65(n) 80.37(a)
420729 XM_418828.1 XP_418828.1
lizard Reptilia MLH16
--
78(a)
1 ↔ 1
6(43632421-43672812)
African clawed frog Amphibia CD302763.12
--
75.12(n)
CD302763.1
zebrafish Actinopterygii zgc663012
hypothetical protein MGC66301
75.55(n)
393632 BC057507.1
fruit fly Insecta Mlh11 3
mismatch repair3 1
58(a) 3 55.61(n) 1 52.51(a) 1
44B93 35796 1 NM_057674.2 1 NP_477022.1 1
worm Secernentea mlh-13
DNA mismatch repair protein
32(a)
III(13580631-13586072) --
baker's yeast Saccharomycetes MLH1(YMR167W)4 1
Protein required for mismatch repair in mitosis and more 4 1
48.03(n) 1 40.63(a) 1
13(594886-597195) 4 855203 1, 4 NP_013890.1 1, 4
thale cress eudicotyledons MLH11
DNA mismatch repair protein MLH1
52.17(n) 45.27(a)
826493 NM_116983.2 NP_567345.2
rice Liliopsida Os.109002
Oryza sativa (japonica cultivar-group) cDNA cloneJ more
77.75(n)
AK070111.1
E. coli Gamma proteobacteria mutL6
methyl-directed mismatch repair protein
22(a)
1 → many
Chromosome(4395435-4397282)
ENSEMBL Gene Tree for MLH1 (if available)TreeFam Gene Tree for MLH1 (if available)
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Paralogsfor MLH1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section
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Genomic Variantsfor MLH1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 3 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for MLH1 (37034823 - 37107380 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MLH1: -- Human Gene Mutation Database (HGMD) : MLH1 Locus Specific Mutation Databases (LSDB): MLH1 5/6 SABiosciences Cancer Mutation PCR Assays for MLH1 (see all 6 ):
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor MLH1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 120436 OMIM disorders : 609310 276300 158320 UniProtKB/Swiss-Prot: MLH1_HUMAN, P40692 Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected Defects in MLH1 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots Defects in MLH1 are a cause of Muir-Torre syndrome (MRTES) [MIM:158320]. Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy Note=Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast Defects in MLH1 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089] Note=Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrates that an epimutation can phenocopy a genetic disease 20/156 (see all 156 ): About MalaCards colon cancer cafe-au-lait spots muir-torre syndrome li-fraumeni syndrome atypical polypoid adenomyoma colorectal cancer, hereditary nonpolyposis, type 2 sebaceous gland neoplasm hemolytic-uremic syndrome atypical hemolytic-uremic syndrome alveolar soft part sarcoma diffuse large b-cell lymphoma monophasic synovial sarcoma familial adenomatous polyposis squamous cell carcinoma non-small cell lung carcinoma biliary tract cancer adenomatous polyposis coli b-cell lymphomas lynch syndrome turcot syndrome 9 diseases from the University of Copenhagen DISEASES database for MLH1 :Lynch syndrome Colorectal cancer Endometrial cancer Carcinoma Adenoma Familial adenomatous polyposis Ovarian cancer Sebaceous carcinoma Small intestine carcinoma 10/95 Novoseek disease relationships for MLH1 gene (see all 95 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
microsatellite instability
98.1
530
16941012 (6), 11601928 (5), 11870540 (4), 16569647 (4) (see all 99 )
lynch syndrome
95.2
130
19949877 (9), 16143124 (4), 19526325 (4), 17973250 (3) (see all 72 )
colorectal cancer
94.1
1282
15294875 (8), 10922385 (8), 18547406 (7), 9399661 (6) (see all 99 )
hereditary nonpolyposis colon cancer
90.1
27
8895729 (2), 16736289 (2), 9927034 (2), 11179758 (2) (see all 23 )
germ-line mutation
85.5
75
11093816 (3), 18331697 (3), 9419403 (3), 9709044 (2) (see all 50 )
muir-torre syndrome
84.9
9
7616541 (1), 10815898 (1), 16826164 (1), 11859205 (1) (see all 9 )
colorectal carcinoma
83.3
98
10418831 (3), 12673483 (3), 15239345 (3), 9087566 (3) (see all 68 )
endometrial cancer
83
93
10938395 (4), 12700670 (3), 10072435 (3), 14760069 (3) (see all 58 )
colon cancer
79.9
121
11221878 (4), 11857087 (3), 15017620 (3), 20444249 (3) (see all 78 )
cancer
78.5
415
16106253 (6), 19855373 (4), 12861399 (4), 10861263 (4) (see all 99 )
GeneTests: MLH1 Hereditary Non-Polyposis Colon Cancer Genetic Association Database (GAD): MLH1 Human Genome Epidemiology (HuGE) Navigator: MLH1 (227 documents) Export disorders for MLH1 gene to outside databases
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Publicationsfor MLH1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for MLH1 gene, integrated from 9 sources (see all 1801 ):(articles sorted by number of sources associating them with MLH1) Utopia : connect your pdf to the dynamic
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. (PubMed id 14961575) 1 , 2 , 4, 9(2004) Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. (PubMed id 14635101) 1 , 2 , 4, 9(2003) Missense mutations in hMLH1 associated with colorectal cancer. (PubMed id 10598809) 1 , 2 , 4, 9(1999) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. (PubMed id 8145827) 1 , 2 , 4, 9(1994) The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers. (PubMed id 16106253) 1 , 4, 9(2005) Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers. (PubMed id 12920342) 1 , 4, 9(2003) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. (PubMed id 11781295) 1 , 2 , 9(2002) MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. (PubMed id 11600610) 1 , 4, 9(2001) Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes. (PubMed id 11139242) 1 , 2 , 9(2001) Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. (PubMed id 11208710) 1 , 4, 9(2001)
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External Searches for MLH1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MLH1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing MLH1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing MLH1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for MLH1 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for MLH1Genetics and Cytogenetics in Oncology and Haematology Hereditary non-polyposis colorectal cancer db http://www.nfdht.nl/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLH1 NIEHS-SNPs http://egp.gs.washington.edu/data/mlh1/
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About This Section Patent Information for MLH1 gene: MLH1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MLH1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for MLH1 OriGene shRNA RFP for MLH1 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for MLH1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MLH1 OriGene 3'-UTR Clone for MLH1 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for MLH1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MLH1 OriGene Custom Protein Services for MLH1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MLH1 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Antibodies & Assays for MLH1
Search Tocris compounds for MLH1
MLH1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLH1
ThermoFisher Antibody for MLH1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MLH1
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and Proteopedia 
for MLH1:
PharmGKB Pathways for 
Browse Tocris compounds for 
Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
Selective marker
Microarrays
In-situ hybridization
