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
Expression
All Expression Data
4 figures from 4 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
Allele Type Localization Consequence Mutagen Supplier
hu1919Allele with one point mutationUnknownSplice SiteENU
sa14372Allele with one point mutationUnknownSplice SiteENU
sa31959Allele with one point mutationUnknownPremature StopENU
sa31960Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-mlh1
    Shin et al., 2021
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    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
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    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 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
    1 - 5 of 8 Show all
    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
    1 - 4 of 4
    Transcripts
    Genome Browsers
    Genome Build: GRCz11Chromosome: 13
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA mlh1-201 (1) Ensembl 2,318 nt
    mRNA mlh1-202 (1) Ensembl 778 nt
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    Interactions and Pathways
    No data available
    Antibodies
    No data available
    Plasmids
    No data available
    Constructs
    No data available
    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACCH211-229O17ZFIN Curated Data
    EncodescDNAMGC:66301ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanMLH13
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    Citations
    1 - 10 of 14
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