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MLH1 mutL homolog 1 [ Homo sapiens (human) ]

Gene ID: 4292, updated on 4-Nov-2018

Summary

Official Symbol
MLH1provided by HGNC
Official Full Name
mutL homolog 1provided by HGNC
Primary source
HGNC:HGNC:7127
See related
Ensembl:ENSG00000076242 MIM:120436; Vega:OTTHUMG00000130797
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
FCC2; COCA2; HNPCC; hMLH1; HNPCC2
Summary
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See MLH1 in Genome Data Viewer
Location:
3p22.2
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (36993350..37050846)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37034841..37092337)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protease associated domain containing 1 pseudogene 1 Neighboring gene EPM2A interacting protein 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene LRR binding FLII interacting protein 2 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1301, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MLH1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Lynch syndrome II
MedGen: C1333991 OMIM: 609310 GeneReviews: Lynch Syndrome
Compare labs
Muir-Torre syndrome
MedGen: C1321489 OMIM: 158320 GeneReviews: Lynch Syndrome
Compare labs
Turcot syndrome
MedGen: C0265325 OMIM: 276300 GeneReviews: Lynch Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-11-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Endometrial cancer, organism-specific biosystem (from KEGG)
    Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Endometrial cancer, conserved biosystem (from KEGG)
    Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
  • Mismatch Repair, organism-specific biosystem (from REACTOME)
    Mismatch Repair, organism-specific biosystemThe mismatch repair (MMR) system corrects single base mismatches and small insertion and deletion loops (IDLs) of unpaired bases. MMR is primarily associated with DNA replication and is highly conser...
  • Mismatch repair, organism-specific biosystem (from KEGG)
    Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
  • Mismatch repair, organism-specific biosystem (from WikiPathways)
    Mismatch repair, organism-specific biosystemDNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairin...
  • Mismatch repair, conserved biosystem (from KEGG)
    Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
  • Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystem (from REACTOME)
    Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystemMSH2:MSH3 (MutSbeta) binds unpaired loops of 2 or more nucleotides (Palombo et al. 1996, Genschel et al. 1998). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta) and an imbala...
  • Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystem (from REACTOME)
    Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystemMSH2:MSH6 (MutSalpha) binds single base mismatches and unpaired loops of 1-2 nucleotides (reviewed in Edelbrock et al. 2013). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta)...
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Platinum drug resistance, organism-specific biosystem (from KEGG)
    Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • Platinum drug resistance, conserved biosystem (from KEGG)
    Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5172

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 
contributes_to MutSalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
guanine/thymine mispair binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair via nonhomologous end joining IEA
Inferred from Electronic Annotation
more info
 
female meiosis chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
male meiosis chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
meiotic metaphase I plate congression IEA
Inferred from Electronic Annotation
more info
 
meiotic spindle midzone assembly IEA
Inferred from Electronic Annotation
more info
 
meiotic telomere clustering IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatch repair IGI
Inferred from Genetic Interaction
more info
PubMed 
mismatch repair TAS
Traceable Author Statement
more info
 
negative regulation of mitotic recombination IEA
Inferred from Electronic Annotation
more info
 
nuclear-transcribed mRNA poly(A) tail shortening IEA
Inferred from Electronic Annotation
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of isotype switching to IgA isotypes IEA
Inferred from Electronic Annotation
more info
 
positive regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
 
resolution of meiotic recombination intermediates IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
somatic hypermutation of immunoglobulin genes IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
synapsis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chiasma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late recombination nodule IEA
Inferred from Electronic Annotation
more info
 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mismatch repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA mismatch repair protein Mlh1
Names
mutL homolog 1, colon cancer, nonpolyposis type 2

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_007109.2 RefSeqGene

    Range
    5001..62497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_216

mRNA and Protein(s)

  1. NM_000249.3NP_000240.1  DNA mismatch repair protein Mlh1 isoform 1

    See identical proteins and their annotated locations for NP_000240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC006850, CN414955
    Consensus CDS
    CCDS2663.1
    UniProtKB/Swiss-Prot
    P40692
    Related
    ENSP00000231790.2, OTTHUMP00000161361, ENST00000231790.6, OTTHUMT00000253337
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502756
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  2. NM_001167617.2NP_001161089.1  DNA mismatch repair protein Mlh1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5'-terminal exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 13 both encode the same isoform (2).
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54562.1
    UniProtKB/Swiss-Prot
    P40692
    Related
    ENSP00000402564.1, OTTHUMP00000210162, ENST00000435176.5
    Conserved Domains (2) summary
    pfam16413
    Location:404658
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:4217
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  3. NM_001167618.2NP_001161090.1  DNA mismatch repair protein Mlh1 isoform 3

    See identical proteins and their annotated locations for NP_001161090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5'-terminal exon and uses an alternate splice site in a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    UniProtKB/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000398272.2, OTTHUMP00000210161, ENST00000455445.6
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  4. NM_001167619.2NP_001161091.1  DNA mismatch repair protein Mlh1 isoform 3

    See identical proteins and their annotated locations for NP_001161091.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a distinct 5'-terminal exon and lacks a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    UniProtKB/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000443665.1, ENST00000539477.5
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  5. NM_001258271.1NP_001245200.1  DNA mismatch repair protein Mlh1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB209848, BC006850, CN414955
    UniProtKB/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    Q59EG3
    Related
    ENSP00000416687.2, OTTHUMP00000208782, ENST00000456676.6, OTTHUMT00000341983
    Conserved Domains (4) summary
    cd03483
    Location:211335
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:501687
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl00075
    Location:31132
    HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
  6. NM_001258273.1NP_001245202.1  DNA mismatch repair protein Mlh1 isoform 3

    See identical proteins and their annotated locations for NP_001245202.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
    Source sequence(s)
    AK316264, BC006850, CN414955
    Consensus CDS
    CCDS54563.1
    UniProtKB/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000444286.2, ENST00000536378.5
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  7. NM_001258274.2NP_001245203.1  DNA mismatch repair protein Mlh1 isoform 3

    See identical proteins and their annotated locations for NP_001245203.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    UniProtKB/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000402667.2, OTTHUMP00000210160, ENST00000458205.6
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  8. NM_001354615.1NP_001341544.1  DNA mismatch repair protein Mlh1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 3, 4, 6, 7, and 9-12, encodes isoform 3.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  9. NM_001354616.1NP_001341545.1  DNA mismatch repair protein Mlh1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 3, 4, 6-8, and 10-12, encodes isoform 3.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  10. NM_001354617.1NP_001341546.1  DNA mismatch repair protein Mlh1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 3, 4, 6-9, 11, and 12, encodes isoform 3.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  11. NM_001354618.1NP_001341547.1  DNA mismatch repair protein Mlh1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 3, 4, 6-10, and 12, encodes isoform 3.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  12. NM_001354619.1NP_001341548.1  DNA mismatch repair protein Mlh1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 3, 4, and 6-11, encodes isoform 3.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54563.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
    pfam16413
    Location:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  13. NM_001354620.1NP_001341549.1  DNA mismatch repair protein Mlh1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 2, encodes isoform 2.
    Source sequence(s)
    AC006583, AC011816
    Consensus CDS
    CCDS54562.1
    Conserved Domains (2) summary
    pfam16413
    Location:404658
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:4217
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  14. NM_001354621.1NP_001341550.1  DNA mismatch repair protein Mlh1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform 5.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  15. NM_001354622.1NP_001341551.1  DNA mismatch repair protein Mlh1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform 5.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  16. NM_001354623.1NP_001341552.1  DNA mismatch repair protein Mlh1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform 5.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  17. NM_001354624.1NP_001341553.1  DNA mismatch repair protein Mlh1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 18-20, encodes isoform 6.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  18. NM_001354625.1NP_001341554.1  DNA mismatch repair protein Mlh1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variants 17, 19, and 20, encodes isoform 6.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  19. NM_001354626.1NP_001341555.1  DNA mismatch repair protein Mlh1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 17, 18, and 20, encodes isoform 6.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  20. NM_001354627.1NP_001341556.1  DNA mismatch repair protein Mlh1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 17-19, encodes isoform 6.
    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (1) summary
    pfam16413
    Location:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  21. NM_001354628.1NP_001341557.1  DNA mismatch repair protein Mlh1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502725
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  22. NM_001354629.1NP_001341558.1  DNA mismatch repair protein Mlh1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (2) summary
    TIGR00585
    Location:6282
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:469723
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  23. NM_001354630.1NP_001341559.1  DNA mismatch repair protein Mlh1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502701
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    36993350..37050846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265161.2XP_005265218.1  DNA mismatch repair protein Mlh1 isoform X1

    Conserved Domains (4) summary
    TIGR00585
    Location:6246
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:432687
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl00075
    Location:31132
    HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
    cl02783
    Location:227266
    TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...
  2. XM_017006450.2XP_016861939.1  DNA mismatch repair protein Mlh1 isoform X2

    Conserved Domains (1) summary
    pfam16413
    Location:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
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