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Aliases for N6AMT1 Gene

Aliases for N6AMT1 Gene

  • N-6 Adenine-Specific DNA Methyltransferase 1 (Putative) 2 3 5
  • N(6)-Adenine-Specific DNA Methyltransferase 1 3 4
  • M.HsaHemK2P 3 4
  • C21orf127 3 4
  • HEMK2 3 4
  • HemK Methyltransferase Family Member 2 2
  • Chromosome 21 Open Reading Frame 127 2
  • N6-DNA-Methyltransferase 3
  • EC 2.1.1.- 4
  • PRED28 3
  • N6AMT 3
  • MTQ2 3

External Ids for N6AMT1 Gene

Previous HGNC Symbols for N6AMT1 Gene

  • C21orf127
  • HEMK2

Previous GeneCards Identifiers for N6AMT1 Gene

  • GC21M026827
  • GC21M029166
  • GC21M030244
  • GC21M015649

Summaries for N6AMT1 Gene

Entrez Gene Summary for N6AMT1 Gene

  • This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]

GeneCards Summary for N6AMT1 Gene

N6AMT1 (N-6 Adenine-Specific DNA Methyltransferase 1 (Putative)) is a Protein Coding gene. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include nucleic acid binding and protein methyltransferase activity.

UniProtKB/Swiss-Prot for N6AMT1 Gene

  • Heterodimeric methyltransferase that catalyzes N5-methylation of ETF1 on Gln-185, using S-adenosyl L-methionine as methyl donor. ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated. May play a role in the modulation of arsenic-induced toxicity. May be involved in the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for N6AMT1 Gene

Genomics for N6AMT1 Gene

Regulatory Elements for N6AMT1 Gene

Promoters for N6AMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around N6AMT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for N6AMT1 Gene

Chromosome:
21
Start:
28,872,191 bp from pter
End:
28,885,373 bp from pter
Size:
13,183 bases
Orientation:
Minus strand

Genomic View for N6AMT1 Gene

Genes around N6AMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
N6AMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for N6AMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for N6AMT1 Gene

Proteins for N6AMT1 Gene

  • Protein details for N6AMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5N5-HEMK2_HUMAN
    Recommended name:
    HemK methyltransferase family member 2
    Protein Accession:
    Q9Y5N5
    Secondary Accessions:
    • Q96F73

    Protein attributes for N6AMT1 Gene

    Size:
    214 amino acids
    Molecular mass:
    22900 Da
    Quaternary structure:
    • Heterodimer with TRMT112.

    Alternative splice isoforms for N6AMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for N6AMT1 Gene

Proteomics data for N6AMT1 Gene at MOPED

Post-translational modifications for N6AMT1 Gene

No Post-translational modifications

Other Protein References for N6AMT1 Gene

Antibody Products

No data available for DME Specific Peptides for N6AMT1 Gene

Domains & Families for N6AMT1 Gene

Protein Domains for N6AMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5N5

UniProtKB/Swiss-Prot:

HEMK2_HUMAN :
  • Belongs to the eukaryotic/archaeal PrmC-related family.
Family:
  • Belongs to the eukaryotic/archaeal PrmC-related family.
genes like me logo Genes that share domains with N6AMT1: view

No data available for Gene Families for N6AMT1 Gene

Function for N6AMT1 Gene

Molecular function for N6AMT1 Gene

UniProtKB/Swiss-Prot Function:
Heterodimeric methyltransferase that catalyzes N5-methylation of ETF1 on Gln-185, using S-adenosyl L-methionine as methyl donor. ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated. May play a role in the modulation of arsenic-induced toxicity. May be involved in the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid.

Enzyme Numbers (IUBMB) for N6AMT1 Gene

Gene Ontology (GO) - Molecular Function for N6AMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with N6AMT1: view
genes like me logo Genes that share phenotypes with N6AMT1: view

Animal Models for N6AMT1 Gene

MGI Knock Outs for N6AMT1:

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for N6AMT1 Gene

Localization for N6AMT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for N6AMT1 Gene COMPARTMENTS Subcellular localization image for N6AMT1 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 2
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for N6AMT1 Gene

Pathways & Interactions for N6AMT1 Gene

genes like me logo Genes that share pathways with N6AMT1: view

Pathways by source for N6AMT1 Gene

Gene Ontology (GO) - Biological Process for N6AMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA,TAS --
genes like me logo Genes that share ontologies with N6AMT1: view

No data available for SIGNOR curated interactions for N6AMT1 Gene

Drugs & Compounds for N6AMT1 Gene

(2) Drugs for N6AMT1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thioguanine Approved Pharma Purine antimetabolite 77
Lomeguatrib Pharma MGMT inhibitor 0
genes like me logo Genes that share compounds with N6AMT1: view

Transcripts for N6AMT1 Gene

Unigene Clusters for N6AMT1 Gene

N-6 adenine-specific DNA methyltransferase 1 (putative):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for N6AMT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: -

Relevant External Links for N6AMT1 Gene

GeneLoc Exon Structure for
N6AMT1
ECgene alternative splicing isoforms for
N6AMT1

Expression for N6AMT1 Gene

mRNA expression in normal human tissues for N6AMT1 Gene

Protein differential expression in normal tissues from HIPED for N6AMT1 Gene

This gene is overexpressed in Heart (48.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for N6AMT1 Gene



SOURCE GeneReport for Unigene cluster for N6AMT1 Gene Hs.163846

mRNA Expression by UniProt/SwissProt for N6AMT1 Gene

Q9Y5N5-HEMK2_HUMAN
Tissue specificity: Widely expressed, with highest expression in parathyroid and pituitary glands, followed by adrenal gland and kidney, and lowest expression in leukocytes and mammary gland.
genes like me logo Genes that share expression patterns with N6AMT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for N6AMT1 Gene

Orthologs for N6AMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for N6AMT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC615200 35
  • 87.69 (n)
  • 90.19 (a)
N6AMT1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC487715 35
  • 89.25 (n)
  • 89.72 (a)
N6AMT1 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia N6amt1 35
  • 84.11 (n)
  • 86.92 (a)
N6amt1 16
N6amt1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia N6AMT1 35
  • 98.75 (n)
  • 97.66 (a)
N6AMT1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia N6amt1 35
  • 83.8 (n)
  • 88.32 (a)
oppossum
(Monodelphis domestica)
Mammalia N6AMT1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves N6AMT1 35
  • 71.36 (n)
  • 71.83 (a)
N6AMT1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia N6AMT1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia n6amt1 35
  • 66.99 (n)
  • 71.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21286 35
zebrafish
(Danio rerio)
Actinopterygii n6amt1 35
  • 59.97 (n)
  • 62.68 (a)
n6amt1 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta snapin 37
  • 39 (a)
CG9960 35
  • 49.1 (n)
  • 41.87 (a)
CG9960 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009458 35
  • 47.99 (n)
  • 46.6 (a)
worm
(Caenorhabditis elegans)
Secernentea C33C12.9 37
  • 47 (a)
CELE_C33C12.9 35
  • 50.09 (n)
  • 48.13 (a)
C33C12.9 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTQ2 36
  • 34 (a)
OneToOne
MTQ2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G13440 35
  • 48.56 (n)
  • 41.62 (a)
rice
(Oryza sativa)
Liliopsida Os03g0824200 35
  • 50.6 (n)
  • 44.04 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC323.05c 35
  • 47.09 (n)
  • 39.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for N6AMT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for N6AMT1 Gene

ENSEMBL:
Gene Tree for N6AMT1 (if available)
TreeFam:
Gene Tree for N6AMT1 (if available)

Paralogs for N6AMT1 Gene

(1) SIMAP similar genes for N6AMT1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for N6AMT1 Gene

genes like me logo Genes that share paralogs with N6AMT1: view

No data available for Paralogs for N6AMT1 Gene

Variants for N6AMT1 Gene

Sequence variations from dbSNP and Humsavar for N6AMT1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1997607 - 28,885,246(+) CGCGT(C/T)CAAAA nc-transcript-variant, reference, missense
rs2205447 - 28,878,293(+) CATTT(C/T)TGCCA nc-transcript-variant, reference, missense
rs2205446 - 28,878,233(+) ATCCT(C/T)TTGGT nc-transcript-variant, reference, missense
rs15988 -- 28,872,478(+) GACCT(A/G)GGCAA nc-transcript-variant
rs1048546 -- 28,872,555(-) AACAG(A/C)TAGCT nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for N6AMT1 Gene

Variant ID Type Subtype PubMed ID
nsv9862 CNV Gain 18304495
dgv1371e1 CNV Complex 17122850

Variation tolerance for N6AMT1 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for N6AMT1 Gene

HapMap Linkage Disequilibrium report
N6AMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for N6AMT1 Gene

Disorders for N6AMT1 Gene

Relevant External Links for N6AMT1

Genetic Association Database (GAD)
N6AMT1
Human Genome Epidemiology (HuGE) Navigator
N6AMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
N6AMT1

No disorders were found for N6AMT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for N6AMT1 Gene

Publications for N6AMT1 Gene

  1. Involvement of N-6 adenine-specific DNA methyltransferase 1 (N6AMT1) in arsenic biomethylation and its role in arsenic-induced toxicity. (PMID: 21193388) Ren X. … Zhang L. (Environ. Health Perspect. 2011) 2 3 4 67
  2. HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1. (PMID: 18539146) Figaro S. … Heurgue-Hamard V. (FEBS Lett. 2008) 3 23
  3. N-6-adenine-specific DNA methyltransferase 1 (N6AMT1) polymorphisms and arsenic methylation in Andean women. (PMID: 23665909) Harari F. … Broberg K. (Environ. Health Perspect. 2013) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for N6AMT1 Gene

Sources for N6AMT1 Gene

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