Gene
mlh1
- ID
- ZDB-GENE-040426-1600
- Name
- mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- Symbol
- mlh1 Nomenclature History
- Previous Names
-
- zgc:66301 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Acts upstream of or within meiosis I and spermatogenesis. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in head and testis. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer; mismatch repair cancer syndrome; and sporadic breast cancer. Orthologous to human MLH1 (mutL homolog 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66301 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary nonpolyposis colorectal cancer type 2 | Alliance | Lynch syndrome 2 | 609310 |
| mismatch repair cancer syndrome | Alliance | Mismatch repair cancer syndrome 1 | 276300 |
| Muir-Torre syndrome | Alliance | Muir-Torre syndrome | 158320 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR014762 | DNA mismatch repair, conserved site |
| Domain | IPR013507 | DNA mismatch repair protein, S5 domain 2-like |
| Domain | IPR032189 | DNA mismatch repair protein Mlh1, C-terminal |
| Family | IPR002099 | DNA mismatch repair protein MutL/Mlh/PMS |
| Family | IPR038973 | DNA mismatch repair protein MutL/Mlh/Pms-like |
| Homologous_superfamily | IPR014721 | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
| Homologous_superfamily | IPR020568 | Ribosomal protein uS5 domain 2-type superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
Domain Details Per Protein
| Protein | Length | DNA mismatch repair, conserved site | DNA mismatch repair protein Mlh1, C-terminal | DNA mismatch repair protein MutL/Mlh/PMS | DNA mismatch repair protein MutL/Mlh/Pms-like | DNA mismatch repair protein, S5 domain 2-like | Histidine kinase/HSP90-like ATPase superfamily | Ribosomal protein uS5 domain 2-type superfamily | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZE4
|
655 | ||||||||
|
UniProtKB:Q6PFL1
|
724 |
Interactions and Pathways
No data available
Plasmids
No data available