Gene Page: MLH1

Summary ?
GeneID4292
SymbolMLH1
SynonymsCOCA2|FCC2|HNPCC|HNPCC2|hMLH1
DescriptionmutL homolog 1
ReferenceMIM:120436|HGNC:HGNC:7127|Ensembl:ENSG00000076242|HPRD:00390|Vega:OTTHUMG00000130797
Gene typeprotein-coding
Map location3p21.3
Pascal p-value0.001
Sherlock p-value6.393E-4
Fetal beta0.814

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IGenome scan meta-analysisPsr: 0.006 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
S100A90.680.42
S100A80.660.41
S100A120.660.40
FCN10.550.32
LYZ0.530.25
VNN20.530.30
SLC11A10.500.36
MT1A0.490.17
RNASE20.480.17
CEBPD0.480.26
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AL031003.1-0.29-0.25
FAM98A-0.28-0.24
PITPNB-0.27-0.26
KATNAL1-0.27-0.22
NCAM2-0.27-0.25
VPS13A-0.26-0.27
NOMO1-0.26-0.25
STARD13-0.26-0.23
RAB21-0.26-0.22
CCDC75-0.26-0.22

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003697single-stranded DNA bindingIDA11809883 
GO:0005515protein bindingIPI2414623 |11427529 |11429708 
|14676842 |17715146 
GO:0005524ATP bindingIEA-
GO:0030983mismatched DNA bindingIEA-
GO:0032137guanine/thymine mispair bindingIEA-
GO:0032137guanine/thymine mispair bindingIMP16713580 
GO:0032407MutSalpha complex bindingIDA16403449 
GO:0043566structure-specific DNA bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000239pachyteneIEA-
GO:0000289nuclear-transcribed mRNA poly(A) tail shorteningIEA-
GO:0000712resolution of meiotic joint molecules as recombinantsIEA-
GO:0006303double-strand break repair via nonhomologous end joiningIEA-
GO:0006298mismatch repairIEA-
GO:0006298mismatch repairIMP11555625 
GO:0006298mismatch repairTAS8128251 
GO:0007283spermatogenesisIEA-
GO:0008630DNA damage response, signal transduction resulting in induction of apoptosisIEA-
GO:0007060male meiosis chromosome segregationIEA-
GO:0048477oogenesisIEA-
GO:0016446somatic hypermutation of immunoglobulin genesIEA-
GO:0051257spindle midzone assembly involved in meiosisIEA-
GO:0043060meiotic metaphase I plate congressionIEA-
GO:0045950negative regulation of mitotic recombinationIEA-
GO:0045190isotype switchingIEA-
GO:0045786negative regulation of cell cycleIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000793condensed chromosomeIEA-
GO:0000795synaptonemal complexIEA-
GO:0005634nucleusIC11809883 
GO:0005634nucleusIEA-
GO:0032389MutLalpha complexIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AP2B1ADTB2 | AP105B | AP2-BETA | CLAPB1 | DKFZp781K0743adaptor-related protein complex 2, beta 1 subunitTwo-hybridBioGRID16189514 
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedCo-purificationBioGRID10783165 
BLMBS | MGC126616 | MGC131618 | MGC131620 | RECQ2 | RECQL2 | RECQL3Bloom syndrome-HPRD,BioGRID11691925 
BLMBS | MGC126616 | MGC131618 | MGC131620 | RECQ2 | RECQL2 | RECQL3Bloom syndromeMLH1 interacts with BLM.BIND11691925 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD,BioGRID10783165 
E2F1E2F-1 | RBAP1 | RBBP3 | RBP3E2F transcription factor 1E2F1 interacts with the MLH1 promoter.BIND11799067 
E2F4E2F-4E2F transcription factor 4, p107/p130-bindingE2F4 interacts with the MLH1 promoter region.BIND11799067 
EXO1HEX1 | hExoIexonuclease 1The exonuclease hEXO1b interacts with the mismatch repair protein hMLH1.BIND11429708 
EXO1HEX1 | hExoIexonuclease 1The exonuclease HEX1 interacts with the mismatch repair protein hMLH1.BIND11429708 
EXO1HEX1 | hExoIexonuclease 1-HPRD,BioGRID11427529 
FRMD6C14orf31 | EX1 | MGC17921 | Willin | c14_5320FERM domain containing 6Two-hybridBioGRID16189514 
MBD4MED1methyl-CpG binding domain protein 4-HPRD,BioGRID10097147 
MBD4MED1methyl-CpG binding domain protein 4MLH1 and interacts with MED1.BIND10097147 
MLH3HNPCC7 | MGC138372mutL homolog 3 (E. coli)-HPRD,BioGRID11292842 
MLH3HNPCC7 | MGC138372mutL homolog 3 (E. coli)hMLH1 interacts with hMLH3.BIND11292842 
MRE11AATLD | HNGS1 | MRE11 | MRE11BMRE11 meiotic recombination 11 homolog A (S. cerevisiae)Co-purificationBioGRID10783165 
MSH2COCA1 | FCC1 | HNPCC | HNPCC1 | LCFS2mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)Co-purificationBioGRID10783165 
MSH4-mutS homolog 4 (E. coli)MLH1 interacts with MSH4.BIND10928988 
MSH4-mutS homolog 4 (E. coli)-HPRD,BioGRID10928988 
MSH6GTBP | HNPCC5 | HSAPmutS homolog 6 (E. coli)Co-purificationBioGRID10783165 
MYCbHLHe39 | c-Mycv-myc myelocytomatosis viral oncogene homolog (avian)-HPRD,BioGRID12584560 
MYCbHLHe39 | c-Mycv-myc myelocytomatosis viral oncogene homolog (avian)MLH1 interacts with Myc.BIND12584560 
NBNAT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95nibrinCo-purificationBioGRID10783165 
PMS1DKFZp781M0253 | FLJ98259 | HNPCC3 | PMSL1 | hPMS1PMS1 postmeiotic segregation increased 1 (S. cerevisiae)hPMS1 interacts with hMLH1.BIND11292842 
PMS1DKFZp781M0253 | FLJ98259 | HNPCC3 | PMSL1 | hPMS1PMS1 postmeiotic segregation increased 1 (S. cerevisiae)-HPRD,BioGRID11292842 
PMS2HNPCC4 | PMS2CL | PMSL2PMS2 postmeiotic segregation increased 2 (S. cerevisiae)hMLH1 interacts with hPMS2.BIND11292842 
PMS2HNPCC4 | PMS2CL | PMSL2PMS2 postmeiotic segregation increased 2 (S. cerevisiae)-HPRD,BioGRID10037723 |11292842 
RAD50RAD50-2 | hRad50RAD50 homolog (S. cerevisiae)Co-purificationBioGRID10783165 
RFC1A1 | MGC51786 | MHCBFB | PO-GA | RECC1 | RFC | RFC140replication factor C (activator 1) 1, 145kDaCo-purificationBioGRID10783165 
TRIM29ATDC | FLJ36085tripartite motif-containing 29Two-hybridBioGRID16189514 
UBOX5KIAA0860 | RNF37 | UBCE7IP5 | UIP5U-box domain containing 5Two-hybridBioGRID16189514 
ZC3H11ADKFZp686D03108 | DKFZp686F14109 | DKFZp781G2455 | KIAA0663 | ZC3HDC11Azinc finger CCCH-type containing 11ATwo-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG MISMATCH REPAIR 2314All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG COLORECTAL CANCER 6247All SZGR 2.0 genes in this pathway
KEGG ENDOMETRIAL CANCER 5245All SZGR 2.0 genes in this pathway
PID P53 DOWNSTREAM PATHWAY 13794All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 11681All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC RECOMBINATION 8662All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
SLEBOS HEAD AND NECK CANCER WITH HPV UP 8443All SZGR 2.0 genes in this pathway
KOINUMA COLON CANCER MSI DN 85All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 UP 15093All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
OHM METHYLATED IN ADULT CANCERS 2723All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
PENG LEUCINE DEPRIVATION UP 14293All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS UP 14591All SZGR 2.0 genes in this pathway
ZUCCHI METASTASIS UP 4324All SZGR 2.0 genes in this pathway
REN BOUND BY E2F 6140All SZGR 2.0 genes in this pathway
FAELT B CLL WITH VH3 21 UP 4430All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
SATO SILENCED EPIGENETICALLY IN PANCREATIC CANCER 4930All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS BY HNE AND TBH 6042All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS UP 198132All SZGR 2.0 genes in this pathway
MARIADASON RESPONSE TO CURCUMIN SULINDAC 5 2317All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202115All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C7 6844All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS UP 8847All SZGR 2.0 genes in this pathway
LOPES METHYLATED IN COLON CANCER DN 2826All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
HOQUE METHYLATED IN CANCER 5645All SZGR 2.0 genes in this pathway
MATZUK MEIOTIC AND DNA REPAIR 3926All SZGR 2.0 genes in this pathway
MATZUK SPERMATOCYTE 7255All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES 389245All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM A 182108All SZGR 2.0 genes in this pathway