Official symbol | MLH1 |
Gene id | 4292 |
Organism | Homo sapiens |
Official full symbol | mutL homolog 1 |
Gene type | protein-coding |
Also known as | COCA2, FCC2, HNPCC, HNPCC2, hMLH1 |
Summary | The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). |
Genomic regions | Chromosome 3 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
MLH1-216 | ENST00000458205.6 | 2608 | 515aa | Protein coding | CCDS54563 | P40692-2 | - | TSL:1, GENCODE basic, |
MLH1-235 | ENST00000674019.1 | 2576 | 515aa | Protein coding | CCDS54563 | P40692-2 | - | GENCODE basic, |
MLH1-221 | ENST00000536378.5 | 2567 | 515aa | Protein coding | CCDS54563 | P40692-2 | - | TSL:2, GENCODE basic, |
MLH1-201 | ENST00000231790.8 | 2494 | 756aa | Protein coding | CCDS2663 | P40692-1 | NM_000249.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
MLH1-206 | ENST00000435176.5 | 2428 | 658aa | Protein coding | CCDS54562 | P40692-3 | - | TSL:2, GENCODE basic, |
MLH1-212 | ENST00000455445.6 | 2296 | 515aa | Protein coding | CCDS54563 | P40692-2 | - | TSL:2, GENCODE basic, |
MLH1-222 | ENST00000539477.6 | 2280 | 515aa | Protein coding | CCDS54563 | P40692-2 | - | TSL:2, GENCODE basic, |
MLH1-213 | ENST00000456676.6 | 2230 | 679aa | Protein coding | - | H0Y818 | - | CDS 5' incomplete, TSL:1, |
MLH1-224 | ENST00000673673.1 | 2205 | 686aa | Protein coding | - | A0A669KAW3 | - | CDS 5' incomplete, |
MLH1-207 | ENST00000441265.6 | 1982 | 327aa | Protein coding | - | E7EUC9 | - | TSL:5, GENCODE basic, |
MLH1-227 | ENST00000673715.1 | 1978 | 633aa | Protein coding | - | A0A669KBK2 | - | GENCODE basic, |
MLH1-231 | ENST00000673899.1 | 1712 | 512aa | Protein coding | - | A0A669KB03 | - | GENCODE basic, |
MLH1-223 | ENST00000616768.5 | 1408 | 404aa | Protein coding | - | A0A087WX20 | - | CDS 5' incomplete, TSL:2, |
MLH1-204 | ENST00000429117.5 | 562 | 83aa | Protein coding | - | C9JZ54 | - | CDS 3' incomplete, TSL:4, |
MLH1-203 | ENST00000413740.1 | 342 | 114aa | Protein coding | - | H0Y806 | - | CDS 5' and 3' incomplete, TSL:1, |
MLH1-210 | ENST00000450420.5 | 233 | 61aa | Protein coding | - | H0Y4N0 | - | CDS 5' incomplete, TSL:1, |
MLH1-232 | ENST00000673947.1 | 2698 | 38aa | Nonsense mediated decay | - | F2Z298 | - | - |
MLH1-233 | ENST00000673972.1 | 2473 | 38aa | Nonsense mediated decay | - | F2Z298 | - | - |
MLH1-205 | ENST00000432299.6 | 2444 | 48aa | Nonsense mediated decay | - | E9PF25 | - | TSL:1, |
MLH1-237 | ENST00000674111.1 | 2403 | 568aa | Nonsense mediated decay | - | A0A669KBB4 | - | - |
MLH1-230 | ENST00000673897.1 | 2338 | 38aa | Nonsense mediated decay | - | F2Z298 | - | - |
MLH1-209 | ENST00000447829.6 | 2247 | 143aa | Nonsense mediated decay | - | H0Y5L7 | - | TSL:1, |
MLH1-202 | ENST00000413212.2 | 2183 | 36aa | Nonsense mediated decay | - | H0Y5U4 | - | TSL:5, |
MLH1-214 | ENST00000457004.5 | 668 | 38aa | Nonsense mediated decay | - | F2Z298 | - | TSL:3, |
MLH1-215 | ENST00000458009.5 | 660 | 95aa | Nonsense mediated decay | - | H0Y793 | - | CDS 5' incomplete, TSL:1, |
MLH1-211 | ENST00000454028.5 | 570 | 38aa | Nonsense mediated decay | - | F2Z298 | - | TSL:5, |
MLH1-234 | ENST00000673990.1 | 1711 | No protein | Processed transcript | - | - | - | - |
MLH1-220 | ENST00000492474.5 | 589 | No protein | Processed transcript | - | - | - | TSL:5, |
MLH1-219 | ENST00000485889.1 | 566 | No protein | Processed transcript | - | - | - | TSL:5, |
MLH1-217 | ENST00000466900.5 | 555 | No protein | Processed transcript | - | - | - | TSL:4, |
MLH1-236 | ENST00000674107.1 | 2827 | No protein | Retained intron | - | - | - | - |
MLH1-229 | ENST00000673889.1 | 1799 | No protein | Retained intron | - | - | - | - |
MLH1-226 | ENST00000673713.1 | 1586 | No protein | Retained intron | - | - | - | - |
MLH1-228 | ENST00000673741.1 | 1495 | No protein | Retained intron | - | - | - | - |
MLH1-208 | ENST00000442249.6 | 1303 | No protein | Retained intron | - | - | - | TSL:4, |
MLH1-218 | ENST00000476172.6 | 1246 | No protein | Retained intron | - | - | - | TSL:3, |
MLH1-238 | ENST00000674125.1 | 1167 | No protein | Retained intron | - | - | - | - |
MLH1-225 | ENST00000673686.1 | 1127 | No protein | Retained intron | - | - | - | - |
Target Gene | MLH1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene MLH1 had been KO in hela cell line. |
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