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

Gene ID: 4255, updated on 9-Sep-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 early B cell factor 3

Genomic regions, transcripts, and products

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 
methylated-DNA-[protein]-cysteine S-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
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 
nucleus TAS
Traceable Author Statement
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

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 (3) summary
    COG0350
    Location:7173
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    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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