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MLH3 (mutL homolog 3)

Identity

Alias (NCBI)HNPCC7
HGNC (Hugo) MLH3
HGNC Previous namemutL (E. coli) homolog 3
 mutL homolog 3 (E. coli)
LocusID (NCBI) 27030
Atlas_Id 381
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 75013775 and ends at 75051467 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MLH3 (14q24.3)::ACSM3 (16p12.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)MLH3   7128
LRG (Locus Reference Genomic)LRG_217
Cards
Entrez_Gene (NCBI)MLH3    mutL homolog 3
AliasesHNPCC7
GeneCards (Weizmann)MLH3
Ensembl hg19 (Hinxton)ENSG00000119684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119684 [Gene_View]  ENSG00000119684 [Sequence]  chr14:75013775-75051467 [Contig_View]  MLH3 [Vega]
ICGC DataPortalENSG00000119684
TCGA cBioPortalMLH3
AceView (NCBI)MLH3
Genatlas (Paris)MLH3
SOURCE (Princeton)MLH3
Genetics Home Reference (NIH)MLH3
Genomic and cartography
GoldenPath hg38 (UCSC)MLH3  -     chr14:75013775-75051467 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLH3  -     14q24.3   [Description]    (hg19-Feb_2009)
GoldenPathMLH3 - 14q24.3 [CytoView hg19]  MLH3 - 14q24.3 [CytoView hg38]
ImmunoBaseENSG00000119684
Genome Data Viewer NCBIMLH3 [Mapview hg19]  
OMIM114500   604395   608089   614385   
Gene and transcription
Genbank (Entrez)AB039667 AF195657 AK298777 AL833875 BC012544
RefSeq transcript (Entrez)NM_001040108 NM_014381
Consensus coding sequences : CCDS (NCBI)MLH3
Gene ExpressionMLH3 [ NCBI-GEO ]   MLH3 [ EBI - ARRAY_EXPRESS ]   MLH3 [ SEEK ]   MLH3 [ MEM ]
Gene Expression Viewer (FireBrowse)MLH3 [ Firebrowse - Broad ]
GenevisibleExpression of MLH3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27030
GTEX Portal (Tissue expression)MLH3
Human Protein AtlasENSG00000119684-MLH3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHC1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHC1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHC1
PhosPhoSitePlusQ9UHC1
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (EBI)DNA_mismatch_repair_CS    DNA_mismatch_S5_2-like    HATPase_C_sf    Mlh3    MutL/Mlh/Pms    MutL_C    MutL_C_dimsub    MutL_C_regsub    MutL_C_sf    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    MutL_C (PF08676)   
Domain families : Pfam (NCBI)pfam01119    pfam08676   
Domain families : Smart (EMBL)DNA_mis_repair (SM01340)  MutL_C (SM00853)  
Conserved Domain (NCBI)MLH3
SuperfamilyQ9UHC1
AlphaFold pdb e-kbQ9UHC1   
Human Protein Atlas [tissue]ENSG00000119684-MLH3 [tissue]
HPRD05094
Protein Interaction databases
DIP (DOE-UCLA)Q9UHC1
IntAct (EBI)Q9UHC1
BioGRIDMLH3
STRING (EMBL)MLH3
ZODIACMLH3
Ontologies - Pathways
QuickGOQ9UHC1
Ontology : AmiGOsynaptonemal complex  male germ cell nucleus  chromatin binding  satellite DNA binding  protein binding  ATP binding  nucleus  nucleoplasm  chiasma  mismatch repair  mismatch repair  synaptonemal complex assembly  reciprocal meiotic recombination  male meiotic nuclear division  female meiosis I  protein localization  ATPase  centromeric DNA binding  mismatched DNA binding  mismatch repair complex  
Ontology : EGO-EBIsynaptonemal complex  male germ cell nucleus  chromatin binding  satellite DNA binding  protein binding  ATP binding  nucleus  nucleoplasm  chiasma  mismatch repair  mismatch repair  synaptonemal complex assembly  reciprocal meiotic recombination  male meiotic nuclear division  female meiosis I  protein localization  ATPase  centromeric DNA binding  mismatched DNA binding  mismatch repair complex  
Pathways : KEGGMismatch repair   
NDEx NetworkMLH3
Atlas of Cancer Signalling NetworkMLH3
Wikipedia pathwaysMLH3
Orthology - Evolution
OrthoDB27030
GeneTree (enSembl)ENSG00000119684
Phylogenetic Trees/Animal Genes : TreeFamMLH3
Homologs : HomoloGeneMLH3
Homology/Alignments : Family Browser (UCSC)MLH3
Gene fusions - Rearrangements
Fusion : QuiverMLH3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLH3
dbVarMLH3
ClinVarMLH3
MonarchMLH3
1000_GenomesMLH3 
Exome Variant ServerMLH3
GNOMAD BrowserENSG00000119684
Varsome BrowserMLH3
ACMGMLH3 variants
VarityQ9UHC1
Genomic Variants (DGV)MLH3 [DGVbeta]
DECIPHERMLH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLH3 
Mutations
ICGC Data PortalMLH3 
TCGA Data PortalMLH3 
Broad Tumor PortalMLH3
OASIS PortalMLH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMLH3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMLH3
Mutations and Diseases : HGMDMLH3
intOGen PortalMLH3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMLH3
DgiDB (Drug Gene Interaction Database)MLH3
DoCM (Curated mutations)MLH3
CIViC (Clinical Interpretations of Variants in Cancer)MLH3
Cancer3DMLH3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114500    604395    608089    614385   
Orphanet3245   
DisGeNETMLH3
MedgenMLH3
Genetic Testing Registry MLH3
NextProtQ9UHC1 [Medical]
GENETestsMLH3
Target ValidationMLH3
Huge Navigator MLH3 [HugePedia]
ClinGenMLH3
Clinical trials, drugs, therapy
MyCancerGenomeMLH3
Protein Interactions : CTDMLH3
Pharm GKB GenePA30845
PharosQ9UHC1
Clinical trialMLH3
Miscellaneous
canSAR (ICR)MLH3
HarmonizomeMLH3
ARCHS4MLH3
DataMed IndexMLH3
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMLH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:22:57 CET 2022

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