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    MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) [ Homo sapiens ]

    Gene ID: 4292, updated on 25-May-2012

    Summary

    Official Symbol
    MLH1provided by HGNC
    Official Full Name
    mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)provided by HGNC
    Primary source
    HGNC:7127
    See related
    Ensembl:ENSG00000076242; HPRD:00390; 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; MGC5172
    Summary
    This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

    Genomic context

    Location :
    3p21.3
    Sequence :
    Chromosome: 3; NC_000003.11 (37034841..37092337)
    See MLH1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene protease-associated domain containing 1 pseudogene Neighboring gene EPM2A (laforin) interacting protein 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene leucine rich repeat (in FLII) interacting protein 2 Neighboring gene ubiquitin-conjugating enzyme E2F (putative) pseudogene Neighboring gene ubiquitin-conjugating enzyme E2D 3 pseudogene 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000003.9 NP_005216.1 E2F1    BIND  PubMed E2F1 interacts with the MLH1 promoter. 
    NC_000003.9 NP_001941.2 E2F4    BIND  PubMed E2F4 interacts with the MLH1 promoter region. 
    NP_000240.1 NP_000048.1 BLM    BIND  PubMed MLH1 interacts with BLM. 
    NP_000240.1 NP_003677.3 EXO1    BIND  PubMed The exonuclease HEX1 interacts with the mismatch repair protein hMLH1. 
    NP_000240.1 NP_006018.3 EXO1    BIND  PubMed The exonuclease hEXO1b interacts with the mismatch repair protein hMLH1. 
    NP_000240.1 NP_003916.1 MBD4    BIND  PubMed MLH1 and interacts with MED1. 
    NP_000240.1 BAA92353.1 MLH3    BIND  PubMed hMLH1 interacts with hMLH3. 
    NP_000240.1 NP_002431.2 MSH4    BIND  PubMed MLH1 interacts with MSH4. 
    NP_000240.1 NP_002458.1 MYC    BIND  PubMed MLH1 interacts with Myc. 
    NP_000240.1 NP_000525.1 PMS1    BIND  PubMed hPMS1 interacts with hMLH1. 
    NP_000240.1 NP_000526.1 PMS2    BIND  PubMed hMLH1 interacts with hPMS2. 
    NP_000240.1     BIND  PubMed The interaction between MLH1 and hMutS-alpha requires ATP. 
    P40692 P63010 AP2B1    HPRD  PubMed  
    P40692 P54132 BLM    HPRD  PubMed  
    P40692 P38398 BRCA1    HPRD  PubMed  
    P40692 P42574 CASP3    HPRD  PubMed  
    P40692 Q9UQ84 EXO1    HPRD  PubMed  
    P40692 Q96NE9 FRMD6    HPRD  PubMed  
    P40692 O95243 MBD4    HPRD  PubMed  
    P40692 Q9UHC1 MLH3    HPRD  PubMed  
    P40692 O15457 MSH4    HPRD  PubMed  
    P40692 P01106 MYC    HPRD  PubMed  
    P40692 P54277 PMS1    HPRD  PubMed  
    P40692 P54278 PMS2    HPRD  PubMed  
    P40692 Q99638 RAD9A    HPRD  PubMed  
    P40692 Q14134 TRIM29    HPRD  PubMed  
    P40692 O94941 UBOX5    HPRD  PubMed  
    P40692 O75152 ZC3H11A    HPRD  PubMed  
    BioGRID:110438 BioGRID:114579 AIFM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:127557 AMOT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:106672 AP2B1    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:120506 ATAD3A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:123774 ATAD3B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:106962 ATM    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:106987 ATP5A1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:107047 BACH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110438 BioGRID:107056 BARD1    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:107110 BLM    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-purification; Far Western; Protein-peptide; Reconstituted Complex; Two-hybrid 
    BioGRID:110438 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-purification 
    BioGRID:110438 BioGRID:123841 BRIP1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110438 BioGRID:124527 DOCK7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:114602 EXO1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid 
    BioGRID:110438 BioGRID:34435 EXO1    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:116573 FAN1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation 
    BioGRID:110438 BioGRID:125795 FRMD6    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:110036 KPNA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:110035 KPNB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:114444 MBD4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110438 BioGRID:117961 MLH3    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:110501 MRE11A    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:110573 MSH2    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:110438 BioGRID:110574 MSH3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:110575 MSH4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110438 BioGRID:109211 MSH6    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:110438 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110438 BioGRID:110763 NBN    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:34359 NTG2    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:111304 PIK3C2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111391 PMS1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid 
    BioGRID:110438 BioGRID:111404 PMS2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110438 BioGRID:111510 PPP2R1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111512 PPP2R2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111513 PPP2R2B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:120946 PPP2R2D    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111524 PPP3CB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111525 PPP3CC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111577 PRKDC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:116943 PSD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:111792 PYGB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:115417 RAD50    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:111913 RFC1    BioGRID  PubMed Co-purification 
    BioGRID:110438 BioGRID:114166 RUVBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:116067 RUVBL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:35368 SGS1    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:113871 SMC1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:117177 TRIM29    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:115227 UBAP2L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:116554 UBOX5    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:123255 WDR61    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:119970 XRN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:121117 YLPM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110438 BioGRID:115208 ZC3H11A    BioGRID  PubMed Two-hybrid 
    BioGRID:110438 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    • Homologs of the MLH1 gene: The MLH1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    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
    • 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 ...
    • 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...
    • 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 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, 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...
    • 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 infertil...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer

    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
     
    contributes_to MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    guanine/thymine mispair binding IEA
    Inferred from Electronic Annotation
    more info
     
    mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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
    ATP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA damage response, signal transduction resulting in induction of apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via nonhomologous end joining 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
     
    mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    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
     
    pachytene IEA
    Inferred from Electronic Annotation
    more info
     
    reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    resolution of meiotic recombination intermediates IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxin IEA
    Inferred from Electronic Annotation
    more info
     
    somatic hypermutation of immunoglobulin genes IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    spindle midzone assembly involved in meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    MutLbeta complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chiasma IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    synaptonemal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    DNA mismatch repair protein Mlh1
    Names
    DNA mismatch repair protein Mlh1

    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)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC006850, CN414955
      Consensus CDS
      CCDS2663.1
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      Q5GJ64
      Related
      ENSP00000231790, OTTHUMP00000161361, ENST00000231790, OTTHUMT00000253337
      Conserved Domains (3) summary
      cd00075
      Location:31122
      Blast Score: 107
      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
      cd03483
      Location:211335
      Blast Score: 542
      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
      Blast Score: 1082
      mutl; DNA mismatch repair protein MutL
    2. NM_001167617.1NP_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.
      Source sequence(s)
      AK298583, BC006850, DA517219
      Consensus CDS
      CCDS54562.1
      UniProtKB/TrEMBL
      B4DQ11
      UniProtKB/TrEMBL
      E9PCU2
      UniProtKB/Swiss-Prot
      P40692
      Related
      ENSP00000402564, OTTHUMP00000210162, ENST00000435176, OTTHUMT00000341986
      Conserved Domains (2) summary
      cd03483
      Location:113237
      Blast Score: 542
      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:4217
      Blast Score: 655
      mutl; DNA mismatch repair protein MutL
    3. NM_001167618.1NP_001161090.1  DNA mismatch repair protein Mlh1 isoform 3

      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, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AK295359, BC006850, DA517219
      Consensus CDS
      CCDS54563.1
      UniProtKB/TrEMBL
      B4DI13
      UniProtKB/Swiss-Prot
      P40692
      Related
      ENSP00000398272, OTTHUMP00000210161, ENST00000455445, OTTHUMT00000341985
      Conserved Domains (2) summary
      COG0323
      Location:2334
      Blast Score: 246
      MutL; DNA mismatch repair enzyme (predicted ATPase) [DNA replication, recombination, and repair]
      cd03483
      Location:194
      Blast Score: 443
      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 ...
    4. NM_001167619.1NP_001161091.1  DNA mismatch repair protein Mlh1 isoform 3

      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, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AK316074, BC006850, DA517219
      Consensus CDS
      CCDS54563.1
      UniProtKB/TrEMBL
      B4DI13
      UniProtKB/Swiss-Prot
      P40692
      Related
      ENSP00000443665, ENST00000539477
      Conserved Domains (2) summary
      COG0323
      Location:2334
      Blast Score: 246
      MutL; DNA mismatch repair enzyme (predicted ATPase) [DNA replication, recombination, and repair]
      cd03483
      Location:194
      Blast Score: 443
      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 ...
    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
      Conserved Domains (3) summary
      cd00075
      Location:31122
      Blast Score: 107
      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
      cd03483
      Location:211335
      Blast Score: 542
      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
      Blast Score: 1081
      mutl; DNA mismatch repair protein MutL
    6. NM_001258273.1NP_001245202.1  DNA mismatch repair protein Mlh1 isoform 3

      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, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AK316264, BC006850, CN414955
    7. NM_001258274.1NP_001245203.1  DNA mismatch repair protein Mlh1 isoform 3

      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, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC011816, BC006850, BX648844

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      37034841..37092337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      36975521..37033106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006583.31 (69180..100369) None
    genomic AC011816.17 (143144..169312) None
    genomic AY217549.1 AAO22994.1
    genomic AY344475.1 AAQ23474.1
    genomic AY706914.1 AAU21566.1
    genomic CH471055.1 EAW64483.1
      EAW64484.1
      EAW64485.1
    genomic FB665438.1 CAR96239.1
    genomic U17839.1 AAA85687.1
    genomic U17840.1 AAA85687.1
    genomic U17841.1 AAA85687.1
    genomic U17842.1 AAA85687.1
    genomic U17843.1 AAA85687.1
    genomic U17844.1 AAA85687.1
    genomic U17845.1 AAA85687.1
    genomic U17846.1 AAA85687.1
    genomic U17847.1 AAA85687.1
    genomic U17848.1 AAA85687.1
    genomic U17849.1 AAA85687.1
    genomic U17850.1 AAA85687.1
    genomic U17851.1 AAA85687.1
    genomic U17852.1 AAA85687.1
    genomic U17853.1 AAA85687.1
    genomic U17854.1 AAA85687.1
    genomic U17855.1 AAA85687.1
    genomic U17856.1 AAA85687.1
    genomic U17857.1 AAA85687.1
    genomic U40978.1 AAA82079.1
    mRNA AB209848.1 BAD93085.1
    mRNA AF001359.1 AAB58936.1
    mRNA AK222810.1 BAD96530.1
    mRNA AK295359.1 BAG58325.1
    mRNA AK298324.1 BAG60576.1
    mRNA AK298583.1 BAG60773.1
    mRNA AK302807.1 BAH13807.1
    mRNA AK311326.1 None
    mRNA AK311365.1 None
    mRNA AK312609.1 BAG35497.1
    mRNA AK316074.1 BAH14445.1
    mRNA AK316264.1 BAH14635.1
    mRNA AU127758.1 None
    mRNA AY517558.1 AAT44531.1
    mRNA BC006850.1 AAH06850.1
    mRNA BX648844.1 None
    mRNA CN414955.1 None
    mRNA DA517219.1 None
    mRNA DQ648888.1 ABG49483.1
    mRNA DQ648889.1 ABG49484.1
    mRNA DQ648890.1 ABG49485.1
    mRNA DQ648891.1 ABG49486.1
    mRNA DQ648892.1 ABG49487.1
    mRNA DQ648893.1 ABG49488.1
    mRNA EU188665.1 ABW69161.1
    mRNA EU188666.1 ABW69162.1
    mRNA EU188667.1 ABW69163.1
    mRNA EU188668.1 ABW69164.1
    mRNA EU188669.1 ABW69165.1
    mRNA EU188670.1 ABW69166.1
    mRNA EU188671.1 ABW69167.1
    mRNA EU188672.1 ABW69168.1
    mRNA EU188673.1 ABW69169.1
    mRNA EU188674.1 ABW69170.1
    mRNA EU188675.1 ABW69171.1
    mRNA EU188676.1 ABW69172.1
    mRNA S77856.1 AAB34135.1
    mRNA U07343.1 AAC50285.1
    mRNA U07418.1 AAA17374.1
    other-genetic EU176254.1 ABW03705.1
    other-genetic EU176562.1 ABW03363.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00497 GenPept UniProtKB/TrEMBL:O00497
    P40692.1 GenPept UniProtKB/Swiss-Prot:P40692
    Q0ZAJ3 GenPept UniProtKB/TrEMBL:Q0ZAJ3
    Q0ZAJ4 GenPept UniProtKB/TrEMBL:Q0ZAJ4
    Q0ZAJ5 GenPept UniProtKB/TrEMBL:Q0ZAJ5
    Q0ZAJ6 GenPept UniProtKB/TrEMBL:Q0ZAJ6
    Q0ZAJ7 GenPept UniProtKB/TrEMBL:Q0ZAJ7
    Q0ZAJ8 GenPept UniProtKB/TrEMBL:Q0ZAJ8
    Q16335 GenPept UniProtKB/TrEMBL:Q16335
    Q53GX1 GenPept UniProtKB/TrEMBL:Q53GX1
    Q59EG3 GenPept UniProtKB/TrEMBL:Q59EG3
    Q5GJ64 GenPept UniProtKB/TrEMBL:Q5GJ64
    Q64FK0 GenPept UniProtKB/TrEMBL:Q64FK0
    Q6VBB8 GenPept UniProtKB/TrEMBL:Q6VBB8

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