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

Gene ID: 4255, updated on 29-May-2016
Official Symbol
MGMTprovided by HGNC
Official Full Name
O-6-methylguanine-DNA methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:7059
See related
Ensembl:ENSG00000170430 HPRD:01135; MIM:156569
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]
Orthologs
Location:
10q26
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (129467190..129768042)
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 uncharacterized LOC105378560 Neighboring gene uncharacterized LOC105378559 Neighboring gene microRNA 4297 Neighboring gene early B-cell factor 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-methyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
methylated-DNA-[protein]-cysteine S-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
methyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA dealkylation involved in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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 drug 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
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
methylated-DNA--protein-cysteine methyltransferase
Names
6-O-methylguanine-DNA methyltransferase
O-6-methylguanine-DNA-alkyltransferase
O6-methylguanine-DNA methyltransferase
methylated DNA protein cysteine methyltransferase
methylguanine-DNA methyltransferase
NP_002403.2

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.

mRNA and Protein(s)

  1. NM_002412.4NP_002403.2  methylated-DNA--protein-cysteine methyltransferase

    See identical proteins and their annotated locations for NP_002403.2

    Status: REVIEWED

    Source sequence(s)
    AK293593, DC416206
    Consensus CDS
    CCDS7660.2
    UniProtKB/TrEMBL
    B4DEE8
    Related
    ENSP00000302111, OTTHUMP00000020741, ENST00000306010, OTTHUMT00000051009
    Conserved Domains (3) summary
    cd06445
    Location:125204
    ATase; The DNA repair protein O6-alkylguanine-DNA alkyltransferase (ATase; also known as AGT, AGAT and MGMT) reverses O6-alkylation DNA damage by transferring O6-alkyl adducts to an active site cysteine irreversibly, without inducing DNA strand breaks. ATases ...
    COG0350
    Location:38204
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    pfam02870
    Location:37121
    Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    129467190..129768042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252682.2XP_005252739.1  

    See identical proteins and their annotated locations for XP_005252739.1

    UniProtKB/Swiss-Prot
    P16455
    Conserved Domains (3) summary
    cd06445
    Location:94173
    ATase; The DNA repair protein O6-alkylguanine-DNA alkyltransferase (ATase; also known as AGT, AGAT and MGMT) reverses O6-alkylation DNA damage by transferring O6-alkyl adducts to an active site cysteine irreversibly, without inducing DNA strand breaks. ATases ...
    COG0350
    Location:7173
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    pfam02870
    Location:690
    Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain
  2. XM_011539817.1XP_011538119.1  

    Conserved Domains (3) summary
    cd06445
    Location:97176
    ATase; The DNA repair protein O6-alkylguanine-DNA alkyltransferase (ATase; also known as AGT, AGAT and MGMT) reverses O6-alkylation DNA damage by transferring O6-alkyl adducts to an active site cysteine irreversibly, without inducing DNA strand breaks. ATases ...
    COG0350
    Location:52176
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    pfam02870
    Location:2993
    Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain
  3. XM_006717863.2XP_006717926.1  

    See identical proteins and their annotated locations for XP_006717926.1

    Conserved Domains (3) summary
    cd06445
    Location:35114
    ATase; The DNA repair protein O6-alkylguanine-DNA alkyltransferase (ATase; also known as AGT, AGAT and MGMT) reverses O6-alkylation DNA damage by transferring O6-alkyl adducts to an active site cysteine irreversibly, without inducing DNA strand breaks. ATases ...
    COG0350
    Location:5114
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    pfam02870
    Location:131
    Methyltransf_1N; 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    131547584..131847911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)