Mlh1 (mutL homolog 1) - Rat Genome Database

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Gene: Mlh1 (mutL homolog 1) Rattus norvegicus
Analyze
Symbol: Mlh1
Name: mutL homolog 1
RGD ID: 620937
Description: Predicted to enable several functions, including ATP hydrolysis activity; chromatin binding activity; and guanine/thymine mispair binding activity. Predicted to contribute to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in several processes, including response to hypoxia; response to toxic substance; and spermatogenesis. Located in synaptonemal complex. Used to study lung carcinoma. 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); PARTICIPATES IN altered mismatch repair pathway; colorectal cancer pathway; endometrial cancer pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 4-hydroperoxycyclophosphamide.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DNA mismatch repair protein Mlh1; mismatch repair protein; mismatch repair protein 1; mutL homolog 1 (E. coli); mutL homolog 1, colon cancer, nonpolyposis type 2; mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); mutL protein homolog 1
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28111,196,468 - 111,233,721 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8111,196,468 - 111,233,617 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8116,812,205 - 116,849,629 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.08115,011,436 - 115,048,860 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.08112,854,258 - 112,891,684 (-)NCBIRnor_WKY
Rnor_6.08119,486,655 - 119,523,716 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8119,486,691 - 119,523,964 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08118,828,172 - 118,865,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48115,616,396 - 115,653,471 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18115,635,850 - 115,672,920 (-)NCBI
Celera8110,478,307 - 110,515,168 (-)NCBICelera
Cytogenetic Map8q32NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (ISO)
acrolein  (ISO)
alpha-pinene  (ISO)
arecoline  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
atrazine  (ISO)
belinostat  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bromoacetate  (ISO)
cadmium dichloride  (ISO)
carmustine  (ISO)
CGP 52608  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
coumestrol  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (ISO)
cypermethrin  (ISO)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (ISO)
dibutyl phthalate  (EXP,ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
Enterolactone  (ISO)
fenofibrate  (EXP)
floxuridine  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
gefitinib  (ISO)
gentamycin  (EXP)
hydrogen peroxide  (ISO)
imidacloprid  (ISO)
imiquimod  (ISO)
irinotecan  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (ISO)
Lasiocarpine  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lycopene  (ISO)
methapyrilene  (ISO)
monocrotaline  (ISO)
myo-inositol hexakisphosphate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (EXP)
nickel atom  (ISO)
nickel dichloride  (EXP,ISO)
olaparib  (ISO)
ozone  (ISO)
paracetamol  (ISO)
PhIP  (ISO)
pirinixic acid  (EXP)
potassium chromate  (ISO)
prochloraz  (EXP)
quercetin  (ISO)
quinoline  (ISO)
resveratrol  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sterigmatocystin  (ISO)
temozolomide  (ISO)
tert-butyl hydroperoxide  (ISO)
trichostatin A  (ISO)
triptonide  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vitamin E  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mismatch repair genes in renal cortical neoplasms. Baiyee D and Banner B, Hum Pathol. 2006 Feb;37(2):185-9. Epub 2005 Dec 15.
2. The molecular biology of endometrial cancers and the implications for pathogenesis, classification, and targeted therapies. Bansal N, etal., Cancer Control. 2009 Jan;16(1):8-13.
3. Mismatch repair gene promoter methylation and expression in hydatidiform moles. Chen H, etal., Arch Gynecol Obstet. 2005 Jun;272(1):35-9. Epub 2004 Aug 28.
4. Immunohistochemical expression of DNA mismatch repair (MMR) system proteins (hMLH1, hMSH2) in cervical preinvasive and invasive lesions. Ciavattini A, etal., Pathol Res Pract. 2005;201(1):21-5.
5. Prognostic significance of DNA repair proteins MLH1, MSH2 and MGMT expression in non-small-cell lung cancer and precursor lesions. Cooper WA, etal., Histopathology. 2008 Apr;52(5):613-22. doi: 10.1111/j.1365-2559.2008.02999.x.
6. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
7. Cloning of rat MLH1 and expression analysis of MSH2, MSH3, MSH6, and MLH1 during spermatogenesis. Geeta Vani R, etal., Genomics 1999 Dec 15;62(3):460-7.
8. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
9. Reduced expression of mutS homolog 2 and mutL homolog 1 affects overall survival in laryngeal squamous cell carcinoma patients: Investigation into a potential cause. Gong HL, etal., Oncol Rep. 2013 Sep;30(3):1371-9. doi: 10.3892/or.2013.2559. Epub 2013 Jun 20.
10. Characterization of a novel meiosis-specific protein within the central element of the synaptonemal complex. Hamer G, etal., J Cell Sci. 2006 Oct 1;119(Pt 19):4025-32. Epub 2006 Sep 12.
11. Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I-II colon cancer patients. Huang SC, etal., Biomed J. 2017 Feb;40(1):39-48. doi: 10.1016/j.bj.2017.01.004. Epub 2017 Mar 14.
12. DNA mismatch repair defects: role in colorectal carcinogenesis. Jacob S and Praz F, Biochimie. 2002 Jan;84(1):27-47.
13. Immunohistochemical detection of hMLH1 and hMSH2 proteins in vulvar carcinoma. Kwasniewska A, etal., Int J Mol Med. 2005 Jun;15(6):955-61.
14. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
15. Aberrant methylation of different DNA repair genes demonstrates distinct prognostic value for esophageal cancer. Ling ZQ, etal., Dig Dis Sci. 2011 Oct;56(10):2992-3004. doi: 10.1007/s10620-011-1774-z. Epub 2011 Jun 15.
16. Missense mutations in hMLH1 associated with colorectal cancer. Liu T, etal., Hum Genet. 1999 Nov;105(5):437-41.
17. Molecular analysis of DNA repair gene methylation and protein expression during chemical-induced rat lung carcinogenesis. Liu WB, etal., Biochem Biophys Res Commun. 2011 May 20;408(4):595-601. doi: 10.1016/j.bbrc.2011.04.067. Epub 2011 Apr 21.
18. Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers. Lo YL, etal., Lung Cancer. 2011 Jun;72(3):280-6. doi: 10.1016/j.lungcan.2010.10.009. Epub 2010 Nov 19.
19. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
20. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
21. Genetic and epigenetic modification of mismatch repair genes hMSH2 and hMLH1 in sporadic breast cancer with microsatellite instability. Murata H, etal., Oncogene. 2002 Aug 22;21(37):5696-703.
22. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
23. Possible involvement of oxidative stress in fenofibrate-induced hepatocarcinogenesis in rats. Nishimura J, etal., Arch Toxicol. 2008 Feb 6.
24. Influence of hMLH1 methylation, mismatch repair deficiency and microsatellite instability on chemoresistance of testicular germ-cell tumors. Olasz J, etal., Anticancer Res. 2005 Nov-Dec;25(6B):4319-24.
25. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
26. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
27. Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Rey JM, etal., Cancer Genet Cytogenet. 2004 Dec;155(2):149-51.
28. GOA pipeline RGD automated data pipeline
29. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
31. Comprehensive gene review and curation RGD comprehensive gene curation
32. Mononucleotide markers of microsatellite instability in carcinomas of the urinary bladder. Saetta AA, etal., Eur J Surg Oncol. 2004 Sep;30(7):796-803.
33. Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers. Sasaki S, etal., Hum Mutat. 1996;7(3):275-8.
34. High concentration of deoxycholic acid abrogates in vitro transformation of IEC6 intestinal cells by azoxymethane. Sasaki T, etal., J Exp Clin Cancer Res. 2005 Dec;24(4):625-31.
35. Proteomics profiling of nuclear proteins for kidney fibroblasts suggests hypoxia, meiosis, and cancer may meet in the nucleus. Shakib K, etal., Proteomics. 2005 Jul;5(11):2819-38.
36. Mismatch repair gene polymorphisms and association with lung cancer development. Slováková P, etal., Adv Exp Med Biol. 2015;833:15-22. doi: 10.1007/5584_2014_83.
37. Evaluation of in vivo liver genotoxic potential of Wy-14,643 and piperonyl butoxide in rats subjected to two-week repeated oral administration. Suzuki T, etal., Arch Toxicol. 2010 Feb 2.
38. ERCC1, MLH1, MSH2, MSH6, and βIII-tubulin: resistance proteins associated with response and outcome to platinum-based chemotherapy in malignant pleural mesothelioma. Ting S, etal., Clin Lung Cancer. 2013 Sep;14(5):558-567.e3. doi: 10.1016/j.cllc.2013.04.013. Epub 2013 Jun 27.
39. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Wheeler VC, etal., Hum Mol Genet. 2003 Feb 1;12(3):273-81.
40. DNMT1 promotes cell proliferation via methylating hMLH1 and hMSH2 promoters in EGFR-mutated non-small cell lung cancer. Wu XY, etal., J Biochem. 2020 Aug 1;168(2):151-157. doi: 10.1093/jb/mvaa034.
41. Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer. Yan ZH, etal., World J Gastroenterol. 2014 Dec 28;20(48):18338-45. doi: 10.3748/wjg.v20.i48.18338.
Additional References at PubMed
PMID:8673133   PMID:8674118   PMID:8796278   PMID:9500552   PMID:9560238   PMID:10092760   PMID:10096563   PMID:10359802   PMID:10385520   PMID:10429667   PMID:10430621   PMID:10657972  
PMID:10747038   PMID:10851078   PMID:11313994   PMID:11337385   PMID:11809883   PMID:11828012   PMID:11934988   PMID:12091911   PMID:12217320   PMID:12743174   PMID:12913077   PMID:13679151  
PMID:14562041   PMID:14716311   PMID:15084308   PMID:15467367   PMID:15480418   PMID:16204034   PMID:16260499   PMID:16307920   PMID:16403449   PMID:16713580   PMID:16728433   PMID:17010969  
PMID:17291760   PMID:17696610   PMID:18316482   PMID:19946888   PMID:21743440   PMID:22164254   PMID:23012479   PMID:23555294   PMID:23603115   PMID:24891606   PMID:25533956   PMID:26300262  
PMID:27760146   PMID:32313015  


Genomics

Comparative Map Data
Mlh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28111,196,468 - 111,233,721 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8111,196,468 - 111,233,617 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8116,812,205 - 116,849,629 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.08115,011,436 - 115,048,860 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.08112,854,258 - 112,891,684 (-)NCBIRnor_WKY
Rnor_6.08119,486,655 - 119,523,716 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8119,486,691 - 119,523,964 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08118,828,172 - 118,865,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48115,616,396 - 115,653,471 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18115,635,850 - 115,672,920 (-)NCBI
Celera8110,478,307 - 110,515,168 (-)NCBICelera
Cytogenetic Map8q32NCBI
MLH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38336,993,466 - 37,050,846 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl336,993,350 - 37,050,846 (+)EnsemblGRCh38hg38GRCh38
GRCh37337,035,009 - 37,092,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36337,009,983 - 37,067,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 34337,009,982 - 37,067,341NCBI
Celera336,977,606 - 37,035,102 (+)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef336,975,521 - 37,033,106 (+)NCBIHuRef
CHM1_1336,986,471 - 37,043,967 (+)NCBICHM1_1
T2T-CHM13v2.0336,994,891 - 37,052,189 (+)NCBIT2T-CHM13v2.0
Mlh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399111,057,296 - 111,100,854 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9111,057,296 - 111,100,859 (-)EnsemblGRCm39 Ensembl
GRCm389111,228,228 - 111,271,786 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9111,228,228 - 111,271,791 (-)EnsemblGRCm38mm10GRCm38
MGSCv379111,130,732 - 111,174,112 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369111,073,071 - 111,116,378 (-)NCBIMGSCv36mm8
Celera9110,951,307 - 110,994,774 (-)NCBICelera
Cytogenetic Map9F3NCBI
cM Map960.92NCBI
Mlh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554213,890,306 - 3,936,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554213,890,291 - 3,936,892 (+)NCBIChiLan1.0ChiLan1.0
MLH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1337,189,439 - 37,245,801 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl337,189,439 - 37,245,801 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0336,899,828 - 36,957,076 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MLH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,889,108 - 6,938,117 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,889,135 - 6,938,116 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha236,928,816 - 6,977,811 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0237,174,416 - 7,223,741 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl237,174,447 - 7,226,855 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1236,994,381 - 7,043,343 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0237,136,584 - 7,185,565 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0237,126,728 - 7,175,765 (+)NCBIUU_Cfam_GSD_1.0
Mlh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118193,417,882 - 193,462,257 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647326,556,611 - 26,603,736 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493647326,556,636 - 26,600,830 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MLH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1321,791,203 - 21,877,757 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11321,791,276 - 21,877,789 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21323,613,450 - 23,692,364 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MLH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1152,364,537 - 2,418,379 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl152,364,738 - 2,418,393 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606311,101,391 - 11,155,261 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mlh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478815,110,658 - 15,160,535 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478815,110,436 - 15,160,462 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mlh1
242 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:28
Count of miRNA genes:25
Interacting mature miRNAs:28
Transcripts:ENSRNOT00000064581
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
631650Stl6Serum triglyceride level QTL 640.0019blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)810378157112202585Rat
1554321Bmd3Bone mineral density QTL 37.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)840952565123900184Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)846531639119088624Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)846531639119088624Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)absolute change in systolic blood pressure (CMO:0000607)846531639119088624Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)846531639119088624Rat
2303171Bp331Blood pressure QTL 3315.570.005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)861290298119084929Rat
631210Bw3Body weight QTL35.9mesenteric fat pad mass (VT:0010427)mesenteric fat pad weight to body weight ratio (CMO:0000654)869349194112783834Rat
1300171Bp184Blood pressure QTL 1843.66arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)870513503118219066Rat
8694446Bw170Body weight QTL 17012.070.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)871888757116888757Rat
9590292Uminl3Urine mineral level QTL 33.620.001urine mineral amount (VT:0015086)urine electrolyte level (CMO:0000593)871888757116888757Rat
8694200Abfw4Abdominal fat weight QTL 49.070.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)871888757116888757Rat
8694392Bw161Body weight QTL 1618.060.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)871888757116888757Rat
1549909Stresp11Stress response QTL 116.830.0019stress-related behavior trait (VT:0010451)number of approaches toward negative stimulus before onset of defensive burying response (CMO:0001960)873473045118473045Rat
2300181Bmd55Bone mineral density QTL 555.70.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)876468691121468691Rat
61437Cia6Collagen induced arthritis QTL 6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)882460758122812818Rat
2313400Anxrr25Anxiety related response QTL 25aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)889265192114019816Rat
738011Anxrr9Anxiety related response QTL 96.1exploratory behavior trait (VT:0010471)number of entries into a discrete space in an experimental apparatus (CMO:0000960)893535351123900184Rat
1358893Bp263Blood pressure QTL 2635.01arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)893965141123900184Rat
1358903Bp252Blood pressure QTL 25270.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)893965141123900184Rat
738014Anxrr15Anxiety related response QTL 153.60.005locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)895718998123900184Rat
2300182Bmd56Bone mineral density QTL 565.4femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)895718998123900184Rat
724539Cm19Cardiac mass QTL 192.6heart mass (VT:0007028)calculated heart weight (CMO:0000073)8100149864120994388Rat

Markers in Region
AI561766  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.28111,196,669 - 111,196,792 (+)MAPPERmRatBN7.2
Rnor_6.08119,486,847 - 119,486,969NCBIRnor6.0
Rnor_5.08118,828,364 - 118,828,486UniSTSRnor5.0
RGSC_v3.48115,616,355 - 115,616,477UniSTSRGSC3.4
Celera8110,478,266 - 110,478,388UniSTS
Cytogenetic Map8q32UniSTS
BE105251  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.28111,207,266 - 111,207,420 (+)MAPPERmRatBN7.2
Rnor_6.08119,497,438 - 119,497,591NCBIRnor6.0
Rnor_5.08118,839,390 - 118,839,543UniSTSRnor5.0
RGSC_v3.48115,626,946 - 115,627,099UniSTSRGSC3.4
Celera8110,488,921 - 110,489,074UniSTS
RH 3.4 Map81191.1UniSTS
Cytogenetic Map8q32UniSTS
BI300989  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.28111,209,236 - 111,209,449 (+)MAPPERmRatBN7.2
Rnor_6.08119,499,406 - 119,499,618NCBIRnor6.0
Rnor_5.08118,841,358 - 118,841,570UniSTSRnor5.0
RGSC_v3.48115,628,914 - 115,629,126UniSTSRGSC3.4
Celera8110,490,881 - 110,491,093UniSTS
RH 3.4 Map81191.9UniSTS
Cytogenetic Map8q32UniSTS
RH138740  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.28111,196,575 - 111,196,790 (+)MAPPERmRatBN7.2
Rnor_6.08119,486,753 - 119,486,967NCBIRnor6.0
Rnor_5.08118,828,270 - 118,828,484UniSTSRnor5.0
RGSC_v3.48115,616,261 - 115,616,475UniSTSRGSC3.4
Celera8110,478,172 - 110,478,386UniSTS
RH 3.4 Map81191.5UniSTS
Cytogenetic Map8q32UniSTS
RH136168  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.28111,197,915 - 111,198,126 (+)MAPPERmRatBN7.2
Rnor_6.08119,488,093 - 119,488,303NCBIRnor6.0
Rnor_5.08118,829,610 - 118,829,820UniSTSRnor5.0
RGSC_v3.48115,617,601 - 115,617,811UniSTSRGSC3.4
Celera8110,479,511 - 110,479,721UniSTS
Cytogenetic Map8q32UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 37 39 24 19 24 1 1 61 28 34 11 1
Low 6 18 17 17 7 10 13 7 7 7
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000064581   ⟹   ENSRNOP00000061834
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl8111,196,581 - 111,233,574 (-)Ensembl
Rnor_6.0 Ensembl8119,486,888 - 119,523,716 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000081718   ⟹   ENSRNOP00000072285
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl8111,196,468 - 111,233,617 (-)Ensembl
Rnor_6.0 Ensembl8119,486,691 - 119,523,964 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000097589   ⟹   ENSRNOP00000086372
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl8111,196,468 - 111,231,665 (-)Ensembl
RefSeq Acc Id: NM_031053   ⟹   NP_112315
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,196,468 - 111,233,617 (-)NCBI
Rnor_6.08119,486,888 - 119,523,716 (-)NCBI
Rnor_5.08118,828,172 - 118,865,320 (-)NCBI
RGSC_v3.48115,616,396 - 115,653,471 (-)RGD
Celera8110,478,307 - 110,515,168 (-)RGD
Sequence:
RefSeq Acc Id: XM_017595929   ⟹   XP_017451418
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,196,468 - 111,233,277 (-)NCBI
Rnor_6.08119,486,655 - 119,523,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039082198   ⟹   XP_038938126
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,196,746 - 111,233,721 (-)NCBI
RefSeq Acc Id: XM_039082199   ⟹   XP_038938127
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,196,478 - 111,233,702 (-)NCBI
RefSeq Acc Id: XM_039082200   ⟹   XP_038938128
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,196,468 - 111,233,318 (-)NCBI
RefSeq Acc Id: XR_005487929
RefSeq Status:
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,199,282 - 111,233,721 (-)NCBI
RefSeq Acc Id: XR_005487930
RefSeq Status:
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,199,282 - 111,233,721 (-)NCBI
RefSeq Acc Id: XR_005487931
RefSeq Status:
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.28111,201,393 - 111,233,721 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_112315   ⟸   NM_031053
- Sequence:
RefSeq Acc Id: XP_017451418   ⟸   XM_017595929
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSRNOP00000072285   ⟸   ENSRNOT00000081718
RefSeq Acc Id: ENSRNOP00000061834   ⟸   ENSRNOT00000064581
RefSeq Acc Id: XP_038938128   ⟸   XM_039082200
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038938127   ⟸   XM_039082199
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038938126   ⟸   XM_039082198
- Peptide Label: isoform X1
- UniProtKB: F1LSD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000086372   ⟸   ENSRNOT00000097589
Protein Domains
DNA_mis_repair

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P97679-F1-model_v2 AlphaFold P97679 1-757 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13696345
Promoter ID:EPDNEW_R6869
Type:initiation region
Name:Mlh1_1
Description:mutL homolog 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.08119,523,738 - 119,523,798EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620937 AgrOrtholog
BioCyc Gene G2FUF-29023 BioCyc
Ensembl Genes ENSRNOG00000033809 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000061834 ENTREZGENE
  ENSRNOP00000061834.2 UniProtKB/TrEMBL
  ENSRNOP00000072285 ENTREZGENE
  ENSRNOP00000072285.1 UniProtKB/TrEMBL
  ENSRNOP00000086372.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000064581 ENTREZGENE
  ENSRNOT00000064581.2 UniProtKB/TrEMBL
  ENSRNOT00000081718 ENTREZGENE
  ENSRNOT00000081718.2 UniProtKB/TrEMBL
  ENSRNOT00000097589.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro DNA_mismatch_repair_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_S5_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mlh1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutL/Mlh/Pms UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:81685 UniProtKB/Swiss-Prot
NCBI Gene 81685 ENTREZGENE
PANTHER PTHR10073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_mis_repair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mlh1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MLH1 RGD
PhenoGen Mlh1 PhenoGen
PROSITE DNA_MISMATCH_REPAIR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DNA_mis_repair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs mutl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2K2L0_RAT UniProtKB/TrEMBL
  A0A8I6A8H0_RAT UniProtKB/TrEMBL
  F1LSD8 ENTREZGENE, UniProtKB/TrEMBL
  MLH1_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-11-19 Mlh1  mutL homolog 1  Mlh1  mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-02-27 Mlh1  mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)  Mlh1  mutL homolog 1 (E. coli)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-20 Mlh1  mutL homolog 1 (E. coli)    mismatch repair protein  Name updated 1299863 APPROVED
2002-08-07 Mlh1  mismatch repair protein      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_protein 757 amino acids 727288
gene_transcript open reading frame of 2274 nucleotides 727288