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 have ATPase activity. Involved in meiosis I and spermatogenesis. Predicted to localize to MutLalpha complex and chiasma. Human ortholog(s) of this gene implicated in Lynch syndrome; Muir-Torre syndrome; colorectal cancer; hereditary nonpolyposis colorectal cancer type 2; and sporadic breast cancer. Is expressed in testis. Orthologous to human MLH1 (mutL homolog 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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