| Gene Symbol |
MLH1
|
| Entrez Gene |
4292
|
| Alt Symbol |
COCA2, FCC2, HNPCC, HNPCC2, hMLH1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mutL homolog 1
|
| Other Description |
DNA mismatch repair protein Mlh1|mutL homolog 1, colon cancer, nonpolyposis type 2
|
| Swissprots |
P40692 E9PCU2 B4DI13 B4DQ11
|
| Accessions |
AAA77037 AAA82079 AAA85687 AAB80857 AAO22994 AAQ23473 AAQ23474 AAU21566 ABL85063 ABQ45883 ABQ45884 ACR33810 BAA75689 CAR96239 CCQ42976 EAW64483 EAW64484 EAW64485 P40692 AB209848 BAD93085 AF001359 AAB58936 AK222810 BAD96530 AK295359 BAG58325 AK298324 BAG60576 AK298583 BAG60773 AK302807 BAH13807 AK311326 AK311365 AK312609 BAG35497 AK316074 BAH14445 AK316264 BAH14635 AU127758 AY517558 AAT44531 BC006850 AAH06850 BX648844 CN414955 DA517219 DQ648888 ABG49483 DQ648889 ABG49484 DQ648890 ABG49485 DQ648891 ABG49486 DQ648892 ABG49487 DQ648893 ABG49488 EU176254 ABW03705 EU176562 ABW03363 EU188665 ABW69161 EU188666 ABW69162 EU188667 ABW69163 EU188668 ABW69164 EU188669 ABW69165 EU188670 ABW69166 EU188671 ABW69167 EU188672 ABW69168 EU188673 ABW69169 EU188674 ABW69170 EU188675 ABW69171 EU188676 ABW69172 S77856 AAB34135 U07343 AAC50285 U07418 AAA17374 XM_005265161 XP_005265218 XM_005265163 XP_005265220 XM_005265164 XP_005265221 XM_005265166 XP_005265223 XM_011533727 XP_011532029 NM_000249 NP_000240 NM_001167617 NP_001161089 NM_001167618 NP_001161090 NM_001167619 NP_001161091 NM_001258271 NP_001245200 NM_001258273 NP_001245202 NM_001258274 NP_001245203
|
| 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
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:11429708, ECO:0000269|PubMed:14676842}.
|
| Tissue Specificity |
Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
|
| Top Pathways |
Mismatch repair, Colorectal cancer, Endometrial cancer, Fanconi anemia pathway
|
![Western Blot: MLH1 Overexpression Lysate (Adult Normal) [NBL1-13134] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for MLH1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/8712_MLH1%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBL1-13134-img0002.jpg)