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    MGMT O-6-methylguanine-DNA methyltransferase [ Homo sapiens (human) ]

    Gene ID: 4255, updated on 13-Oct-2018

    Summary

    Official Symbol
    MGMTprovided by HGNC
    Official Full Name
    O-6-methylguanine-DNA methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:7059
    See related
    Ensembl:ENSG00000170430 MIM:156569; Vega:OTTHUMG00000019261
    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
    Summary
    Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in liver (RPKM 6.2), kidney (RPKM 3.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See MGMT in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (129467184..129770983)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131265454..131565783)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378556 Neighboring gene uncharacterized LOC105378557 Neighboring gene VISTA enhancer hs656 Neighboring gene uncharacterized LOC105378560 Neighboring gene uncharacterized LOC107984280 Neighboring gene uncharacterized LOC107984281 Neighboring gene EBF transcription factor 3

    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

    NHGRI GWAS Catalog

    Description
    A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT.
    NHGRI GWA Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    NHGRI GWA Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • DNA Damage Reversal, organism-specific biosystem (from REACTOME)
      DNA Damage Reversal, organism-specific biosystemDNA damage can be directly reversed by dealkylation (Mitra and Kaina 1993). Three enzymes play a major role in reparative DNA dealkylation: MGMT, ALKBH2 and ALKBH3. MGMT dealkylates O-6-methylguanine...
    • 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...
    • MGMT-mediated DNA damage reversal, organism-specific biosystem (from REACTOME)
      MGMT-mediated DNA damage reversal, organism-specific biosystemReactive cellular catabolites can cause DNA damage by 6-O-methylation of guanine. 6-O-methylguanine can pair ambiguously with both C and T, and cause transition mutations. Active reversal of such da...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-methyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methylated-DNA-[protein]-cysteine S-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    methyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA dealkylation involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    DNA ligation TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    membrane HDA PubMed 
    nucleoplasm 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    methylated-DNA--protein-cysteine methyltransferase
    Names
    6-O-methylguanine-DNA methyltransferase
    O-6-methylguanine-DNA-alkyltransferase
    O6-methylguanine-DNA methyltransferase
    methylguanine-DNA methyltransferase
    NP_002403.3
    XP_005252739.1
    XP_016871764.1

    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_052673.1 RefSeqGene

      Range
      5058..308800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002412.5NP_002403.3  methylated-DNA--protein-cysteine methyltransferase

      Status: REVIEWED

      Source sequence(s)
      AK293593, AL157832
      Consensus CDS
      CCDS7660.2
      Related
      ENSP00000302111.7, ENST00000306010.7
      Conserved Domains (2) summary
      TIGR00589
      Location:93172
      ogt; O-6-methylguanine DNA methyltransferase
      pfam02870
      Location:690
      Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain

    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_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      129467184..129770983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252682.2XP_005252739.1  methylated-DNA--protein-cysteine methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005252739.1

      UniProtKB/Swiss-Prot
      P16455
      Conserved Domains (2) summary
      TIGR00589
      Location:93172
      ogt; O-6-methylguanine DNA methyltransferase
      pfam02870
      Location:690
      Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain
    2. XM_017016275.1XP_016871764.1  methylated-DNA--protein-cysteine methyltransferase isoform X2

      Conserved Domains (3) summary
      COG0350
      Location:5114
      AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
      TIGR00589
      Location:34113
      ogt; O-6-methylguanine DNA methyltransferase
      pfam02870
      Location:131
      Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain
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