Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MLH1 | 4292 | MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | 3 | FCC2; COCA2; HNPCC; hMLH1; HNPCC2 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22878509 | 2013 | Cell line : - Source : Colon Cancer Family Registry (C-CFR) Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry, Cell culture, Cell invasion assay, RT-PCR, Tautomerase activity. | Down-regulation | - | 416 individuals with a colorectal cancer showing loss of MLH1 expression. |
| 22918162 | 2013 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Immunohistochemical staining, MSH6 Mutation Analysis. | Down-regulation | - | - |
| 23017166 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Down-regulation | - | - |
| 23091444 | 2012 | Cell line : - Source : Daegu Catholic University Hospital, Daegu, Korea. Sample Type : - No. of Sample : - Stage : - | PCR, Denaturing high performance liquid chromatography, RT- PCR and immunohistochemistry. | Down-regulation | - | Tumor location, and negative expression of MLH1 protein are important parameters for selection of patients with colorectal cancers for MSI testing. A total of 120 resected colorectal cancers were enrolled retrospectively for this MSI study. |
| 22987381 | 2012 | Cell line : - Source : Tunisian sporadic colorectal cancer Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry, Microfluid-based on-chip electrophoresis, methylation-specific PCR. | Methylation | - | 150 colorectal cancers samples were included in this study. |
| 22997602 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Methylation | - | - |
| 22669205 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | PCR-denaturing high-performance liquid chromatography, PCR-SSCP. | Mutation | - | Missense mutations in MLH1, MSH2, KRAS, and APC genes in colorectal cancer patients. 76 CRC patients were recruited. |
| 22899370 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | whole exome sequencing | Mutation | MLH1 a DNA mismatch repair gene. | MLH1 expression status and frequencies of APC, KRAS, and BRAF mutation in CRC may provide a useful diagnostic tool that could supplement the standard microsatellite instability assays and influence therapeutic decisions. 22 (63%) of the hypermutated CRCs exhibited transcriptional silencing of the MLH1 gene. 474 colorectal cancers were analysed. |
| 22843073 | 2012 | Cell line : - Source : Western Mexico. Sample Type : - No. of Sample : - Stage : - | PCR-RFLP | Polymorhpism | - | MLH1 -93G>A and 655A>G polymorphisms are associated with CRC. Peripheral blood of 108 individuals with CRC and 120 blood donors (control group) obtained from Western Mexico. |
| 23226285 | 2012 | Cell line : - Source : PubMed and EMBASE databases used for all relevant articles. Sample Type : - No. of Sample : - Stage : - | Meta-analysis | Polymorhpism | - | MLH1 -93G>A polymorphism may contribute to individual susceptibility to CRC and act as a risk factor for MSI-CRC. Meta-analysis of six studies (17,791 cases and 13,782 controls) was performed. In addition 742 cases and 10,895 controls was used to assess the association between the MLH1 -93G>A polymorphism and the risk of MSI-CRC. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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] |
| Chromosome | 3 |
| Location | 3p21.3 |
| Start | 36993350 |
| End | 37050846 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 57497 |
| OMIM ID | 120436 |
| HGNC ID | HGNC:7127 |
| Unigene ID | Hs.195364 |
| Ensembl ID | ENSG00000076242 |
| PharmGKB ID | PA240 |
mRNA Information
| mRNA ID | NM_000249.3 |
|---|---|
| Exon | join(1..314,3270..3360,7606..7704,11052..11125, 13642..13714,15465..15556,18471..18513,18662..18750, 21083..21195,24157..24250,26961..27114,32288..32658, 35435..35583,46837..46945,48919..48982,54170..54334, 55168..55260,55555..55668,57137..57497) | mRNA Sequence | Download Select all |
| Length | 2662 |
CDS Information
| Location | join(199..314,3270..3360,7606..7704,11052..11125, 13642..13714,15465..15556,18471..18513,18662..18750, 21083..21195,24157..24250,26961..27114,32288..32658, 35435..35583,46837..46945,48919..48982,54170..54334, 55168..55260,55555..55668,57137..57304) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS2663.1 |
Protein Information
| Protein ID | NP_000240.1 |
|---|---|
| Protein Name | MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
| Molecular Wt. (Da) | 84470 |
| Protein Sequence | Download Select all |
| Length | 756 |
| Uniprot ID | Q16667 |
| Ensembl Protein ID | ENSP00000335357 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| D | Proteolytic Cleavage | 418 |
| S | Phosphorylation | 477 |
| S | Phosphorylation | 269 |
| Y | Phosphorylation | 183 |
| S | Phosphorylation | 184 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 163 | AP2B1 | 3015 | AAH06201.1 | yeast 2-hybrid | 16189514 |
| 672 | BRCA1 | 218 | NP_009231.2 | in vitro | 10783165 |
| 9877 | ZC3H11A | 11100 | NP_055642.3 | yeast 2-hybrid | 16189514 |
| 22888 | UBOX5 | 15605 | NP_055763.1 | yeast 2-hybrid | 16189514 |
| 23650 | TRIM29 | 10280 | NP_036233.2 | yeast 2-hybrid | 16189514 |
| 122786 | FRMD6 | 12646 | NP_689543.1 | yeast 2-hybrid | 16189514 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Colorectal cancer | hsa05210 |
| Endometrial cancer | hsa05213 |
| Fanconi anemia pathway | hsa03460 |
| Mismatch repair | hsa03430 |
| Pathways in cancer | hsa05200 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd03483 | 211-335 | MutL_Trans_MLH1 |
| cl02783 | 211-335 | TopoII_MutL_Trans superfamily |
| cd00075 | 31-122 | HATPase_c |
| cl00075 | 31-122 | HATPase_c superfamily |
| cd00782 | 214-334 | MutL_Trans |
| pfam01119 | 216-335 | DNA_mis_repair |
| cd00329 | 214-315 | TopoII_MutL_Trans |
| cd03482 | 216-334 | MutL_Trans_MutL |
| cd03484 | 214-332 | MutL_Trans_hPMS_2_like |
| pfam13589 | 27-132 | HATPase_c_3 |
| cd03485 | 218-332 | MutL_Trans_hPMS_1_like |
| pfam02518 | 31-124 | HATPase_c |
| smart00387 | 31-87 | HATPase_c |
| cd03486 | 217-334 | MutL_Trans_MLH3 |
| TIGR00585 | 6-315 | mutl |
| COG0323 | 8-687 | MutL |
| PRK00095 | 8-427 | mutL |
| COG0642 | May-84 | BaeS |
Ontology Information
| HPRD ID | 2622 |
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Transcription factor activity (GO:0003700) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.