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. Is expressed in testis. 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. Orthologous to human MLH1 (mutL homolog 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mlh1 Human Ortholog
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
Associated With mlh1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR014762 DNA mismatch repair, conserved site
Domain IPR002099 DNA mismatch repair protein family, N-terminal
Domain IPR013507 DNA mismatch repair protein, S5 domain 2-like
Domain IPR032189 DNA mismatch repair protein Mlh1, C-terminal
Family IPR038973 DNA mismatch repair protein MutL/Mlh/Pms
Homologous_superfamily IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Homologous_superfamily IPR020568 Ribosomal protein S5 domain 2-type fold
Homologous_superfamily IPR036890 Histidine kinase/HSP90-like ATPase superfamily
Domain Details Per Protein
Protein Length DNA mismatch repair, conserved site DNA mismatch repair protein family, N-terminal DNA mismatch repair protein Mlh1, C-terminal DNA mismatch repair protein MutL/Mlh/Pms DNA mismatch repair protein, S5 domain 2-like Histidine kinase/HSP90-like ATPase superfamily Ribosomal protein S5 domain 2-type fold Ribosomal protein S5 domain 2-type fold, subgroup
UniProtKB:B8A6F4 215
UniProtKB:B8A6F5 725
UniProtKB:Q6PFL1 724
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations