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

Gene ID: 4255, updated on 28-Nov-2021

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
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
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Genomic context

See MGMT in Genome Data Viewer
Location:
10q26.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (129467241..129770983)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131265505..131569247)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378557 Neighboring gene Sharpr-MPRA regulatory region 9394 Neighboring gene VISTA enhancer hs656 Neighboring gene uncharacterized LOC105378560 Neighboring gene long intergenic non-protein coding RNA 2666 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT.
GeneReviews: Not available
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
GeneReviews: Not available
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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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
    ENSP00000498729.1, ENST00000651593.1
    Conserved Domains (2) summary
    COG0350
    Location:7173
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    TIGR00589
    Location:93172
    ogt; O-6-methylguanine DNA methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    129467241..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
    COG0350
    Location:7173
    AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
    TIGR00589
    Location:93172
    ogt; O-6-methylguanine DNA methyltransferase
  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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