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General Information
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 20593048 | 2010 | Cell line : - Source : Department of General Surgery, Emergency Hospital, Craiova. Sample Type : CRC tumor and normal tissue No. of Sample : 29 Stage : - | real time RT PCR | Down-regulation | - | The general tendency observed was a lower mRNA level of MMR genes (MLH3 a member of MMR) in tumor samples compared with the normal tissue. |
| 11317354 | 2001 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 96 Stage : - | Germline MLH3 Mutation Analyses, Somatic MLH3 Mutation Analyses | Mutation | - | Somatic MLH3 mutations is consistently found with a possible role for this gene in the progression of colorectal cancer tumorigenesis. Screening of 36 colon tumors showing an appreciable frequency of somatic MLH3 coding mutations in MSI-H tumors (25%). |
| 17656264 | 2007 | Cell line : - Source : Asan Medical Center (Seoul, Korea). Sample Type : CRC tumor and normal tissue No. of Sample : 268 colorectal cancer patients together with 300 healthy and 259 sporadic colorectal cancer controls Stage : TNM Stage I-IV | Automated denaturing high performance liquid chromatology, sequencing, Exon-by-exon PCR | Mutation | - | One missense mutation in exon 1 of MLH3 (V741F, c.2221G/T) was identi?ed in a 71-year-old male patient with right-sided colon cancer, but not in healthy controls or sporadic colorectal cancer patients. Two SNPs in intron 9 (?�?�66G/A) and exon 12 (E1451K, c.4351 G/A) of MLH3 and one in exon 13 of EXO1 (P757L) were identi?ed in familial colorectal cancer patients and healthy controls in our study. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] | Chromosome | 14 |
| Location | 14q24.3 |
| Start | 75013764 |
| End | 75051532 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 37769 |
| OMIM ID | 604395 |
| HGNC ID | HGNC:7128 |
| Unigene ID | Hs.436650 |
| Ensembl ID | ENSG00000119684 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_014381.2 |
|---|---|
| Exon | join(1..153,1815..5157,9056..9154,9833..9918,11518..11622, 13121..13193,19354..19465,20831..20990,28515..28538, 28641..28719,32553..32704,34332..37769) | mRNA Sequence | Download Select all |
| Length | 7839 |
CDS Information
| Location | join(1878..5157,9056..9154,9833..9918,13121..13193, 19354..19465,20831..20990,28515..28538,28641..28719, 32553..32704,34332..34451) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | - |
Protein Information
| Protein ID | NP_001035197.1 |
|---|---|
| Protein Name | MutL homolog 3 (E. coli) |
| Molecular Wt. (Da) | 163581 |
| Protein Sequence | Download Select all |
| Length | 1453 |
| Uniprot ID | P51161 |
| Ensembl Protein ID | ENSP00000377549 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
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 |
|---|---|---|---|---|---|
| 4292 | MLH1 | 390 | NP_000240.1 | in vitro;in vivo;yeast 2-hybrid | 1 061 512 311 292 840 |
| 4438 | MSH4 | 3658 | NP_002431.2 | in vitro | 12095912 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Mismatch repair | hsa03430 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd03486 | 206-349 | MutL_Trans_MLH3 |
| cl02783 | 206-349 | TopoII_MutL_Trans superfamily |
| cd00075 | 22-115 | HATPase_c |
| cl00075 | 22-115 | HATPase_c superfamily |
| smart00853 | 1191-1370 | MutL_C |
| cl07336 | 1191-1370 | MutL_C superfamily |
| cd00782 | 209-348 | MutL_Trans |
| pfam08676 | 1190-1370 | MutL_C |
| cd00329 | 209-328 | TopoII_MutL_Trans |
| pfam01119 | 213-345 | DNA_mis_repair |
| cd03484 | 225-347 | MutL_Trans_hPMS_2_like |
| pfam02518 | 22-77 | HATPase_c |
| cd03483 | 213-269 | MutL_Trans_MLH1 |
| cd03485 | 250-341 | MutL_Trans_hPMS_1_like |
| smart00387 | 22-77 | HATPase_c |
| TIGR00585 | 1-269 | mutl |
| COG0323 | 2-437 | MutL |
| PRK00095 | 26-264 | mutL |
| COG0323 | 1189-1409 | MutL |
| PRK00095 | 1189-1409 | mutL |
Ontology Information
| HPRD ID | 629 |
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Extracellular matrix structural constituent (GO:0005201) |
| Biological Process | Cell growth and/or maintenance (GO:0008151) |
Drug Information
No matching records could be found.