Mlh1
Gene Detail

Symbol Name ID

Mlh1 mutL homolog 1 (E. coli) MGI:101938

Synonyms

1110035C23Rik, colon cancer, nonpolyposis type 2

Feature Type

protein coding gene

Genetic Map

Chromosome 9

60.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr9:111228228-111271608 bp, - strand From VEGA annotation of GRCm38   43381 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:208  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: DNA mismatch repair protein, Mlh1 type
Gene Tree: Mlh1

Human homologs

Human Homolog		MLH1, mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
NCBI Gene ID		4292
neXtProt AC		NX_P40692
Human Synonyms		COCA2, FCC2, hMLH1, HNPCC, HNPCC2
Human Chr (Location)		3p21.3; chr3:37034841-37092337 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human MLH1

Alleles and phenotypes

All alleles(12) : Targeted(6) Gene trapped(6)
 

Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors.

 
Human Diseases Modeled Using Mouse Mlh1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (52 annotations)

Process	cell cycle, DNA repair, ...
Component	chiasma, chromosome, ...
Function	ATPase activity, ATP binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (16 records)
Data Summary: Results (4)    Tissues (2)    Images (1)
Theiler Stages: 25, 28

Assay Type	Results
Immunohistochemistry	2
RT-PCR	2

cDNA source data(56)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(57) cDNA(56) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000031784 (Evidence)
Ensembl Gene Model	ENSMUSG00000032498 (Evidence)
Entrez Gene	17350 (Evidence)
UniGene	196006
DFCI	TC1577324, TC1594658, TC1672190
DoTS	DT.101140778, DT.490690, DT.94219805, DT.99850998
NIA Mouse Gene Index	U031377
Consensus CDS Project	CCDS40784.1
International Mouse Knockout Project Status	Mlh1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031784	VEGA Gene Model | MGI Sequence Detail	43381	C57BL/6J
transcript	OTTMUST00000078764	VEGA | MGI Sequence Detail	2572	Not Applicable
polypeptide	OTTMUSP00000041918	VEGA | MGI Sequence Detail	760	Not Applicable

All sequences(52) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(270 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR014762	DNA mismatch repair, conserved site
InterPro	IPR002099	DNA mismatch repair protein
InterPro	IPR013507	DNA mismatch repair protein, C-terminal
InterPro	IPR011186	DNA mismatch repair protein Mlh1
InterPro	IPR014763	DNA mismatch repair protein, N-terminal
InterPro	IPR003594	Histidine kinase-like ATPase, ATP-binding domain
InterPro	IPR020568	Ribosomal protein S5 domain 2-type fold
InterPro	IPR014721	Ribosomal protein S5 domain 2-type fold, subgroup
Protein Ontology	PR:000010442	DNA mismatch repair protein Mlh1

References

(Earliest) J:17196 Bronner CE, et al., Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994 Mar 17;368(6468):258-61
(Latest) J:195870 Zhou W, et al., Use of somatic mutations to quantify random contributions to mouse development. BMC Genomics. 2013;14:39
All references(136)

Other accession IDs

MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094