ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ATP-dependent DNA damage sensor activity. Predicted to contribute to DNA endonuclease activity. Acts upstream of or within meiosis I and spermatogenesis. Predicted to be located in chromosome and nuclear lumen. Predicted to be part of MutLalpha complex. Is expressed in head and testis. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); disease of cellular proliferation (multiple); and mismatch repair cancer syndrome. 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 | Additional Resources | 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 | InterPro | 655 | ||||||||
| UniProtKB:Q6PFL1 | InterPro | 724 | ||||||||
| UniProtKB:A0AB13AAI6 | InterPro | 724 | ||||||||
| UniProtKB:A0AB32U2A4 | InterPro | 655 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers