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MLH3 mutL homolog 3 [ Homo sapiens (human) ]

Gene ID: 27030, updated on 4-Jul-2020

Summary

Official Symbol
MLH3provided by HGNC
Official Full Name
mutL homolog 3provided by HGNC
Primary source
HGNC:HGNC:7128
See related
Ensembl:ENSG00000119684 MIM:604395
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HNPCC7
Summary
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 5.0), adrenal (RPKM 3.9) and 25 other tissues See more
Orthologs

Genomic context

See MLH3 in Genome Data Viewer
Location:
14q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (75013764..75051479, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75480467..75518235, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984690 Neighboring gene placental growth factor Neighboring gene eukaryotic translation initiation factor 2B subunit beta Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene acylphosphatase 1 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene NIMA related kinase 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Colorectal cancer
MedGen: C1527249 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Endometrial carcinoma
MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
Compare labs
Hereditary nonpolyposis colorectal cancer type 7
MedGen: C1858380 OMIM: 614385 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centromeric DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
satellite DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
female meiosis I IEA
Inferred from Electronic Annotation
more info
 
male meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatch repair NAS
Non-traceable Author Statement
more info
PubMed 
protein localization IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination NAS
Non-traceable Author Statement
more info
PubMed 
synaptonemal complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chiasma IEA
Inferred from Electronic Annotation
more info
 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
mismatch repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
DNA mismatch repair protein Mlh3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008649.1 RefSeqGene

    Range
    5001..42769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_217

mRNA and Protein(s)

  1. NM_001040108.2NP_001035197.1  DNA mismatch repair protein Mlh3 isoform 1

    See identical proteins and their annotated locations for NP_001035197.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB039667, AL049780, BX090851, DA805814
    Consensus CDS
    CCDS32123.1
    UniProtKB/Swiss-Prot
    Q9UHC1
    Related
    ENSP00000348020.2, ENST00000355774.6
    Conserved Domains (3) summary
    smart00853
    Location:11911370
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
  2. NM_014381.3NP_055196.2  DNA mismatch repair protein Mlh3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as delta7, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL049780, BC112167, BX090851, DA731365, DA805814
    Consensus CDS
    CCDS9837.1
    UniProtKB/TrEMBL
    Q2M1Z1
    Related
    ENSP00000370355.3, ENST00000380968.6
    Conserved Domains (3) summary
    smart00853
    Location:11911346
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    75013764..75051479 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267533.5XP_005267590.1  DNA mismatch repair protein Mlh3 isoform X5

    Conserved Domains (3) summary
    smart00853
    Location:11561311
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
  2. XM_005267532.5XP_005267589.1  DNA mismatch repair protein Mlh3 isoform X3

    Conserved Domains (3) summary
    smart00853
    Location:11561335
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    cl28386
    Location:1269
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  3. XM_011536646.3XP_011534948.1  DNA mismatch repair protein Mlh3 isoform X4

    Conserved Domains (3) summary
    smart00853
    Location:12171313
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
  4. XM_024449538.1XP_024305306.1  DNA mismatch repair protein Mlh3 isoform X3

    Conserved Domains (3) summary
    smart00853
    Location:11561335
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    cl28386
    Location:1269
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  5. XM_024449539.1XP_024305307.1  DNA mismatch repair protein Mlh3 isoform X7

    Conserved Domains (1) summary
    cl28386
    Location:5225
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  6. XM_006720116.4XP_006720179.1  DNA mismatch repair protein Mlh3 isoform X1

    See identical proteins and their annotated locations for XP_006720179.1

    UniProtKB/Swiss-Prot
    Q9UHC1
    Related
    ENSP00000452316.1, ENST00000556740.5
    Conserved Domains (3) summary
    smart00853
    Location:11911370
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
  7. XM_017021219.2XP_016876708.1  DNA mismatch repair protein Mlh3 isoform X2

    UniProtKB/Swiss-Prot
    Q9UHC1
    Conserved Domains (3) summary
    smart00853
    Location:11911346
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
  8. XM_005267534.3XP_005267591.1  DNA mismatch repair protein Mlh3 isoform X6

    Conserved Domains (3) summary
    smart00853
    Location:11911275
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; MutL_Trans_MLH3: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to ...
    pfam02518
    Location:22115
    HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

RNA

  1. XR_001750229.2 RNA Sequence

  2. XR_245681.4 RNA Sequence

  3. XR_001750225.2 RNA Sequence

  4. XR_002957544.1 RNA Sequence

  5. XR_001750230.2 RNA Sequence

  6. XR_001750227.2 RNA Sequence

  7. XR_001750228.2 RNA Sequence

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