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Aliases for N6AMT1 Gene

Aliases for N6AMT1 Gene

  • N-6 Adenine-Specific DNA Methyltransferase 1 2 3 5
  • N-6 Adenine-Specific DNA Methyltransferase 1 (Putative) 2 3
  • HemK Methyltransferase Family Member 2 2 3
  • M.HsaHemK2P 3 4
  • C21orf127 3 4
  • HEMK2 3 4
  • N(6)-Adenine-Specific DNA Methyltransferase 1 4
  • 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) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Gene Expression. Gene Ontology (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.

Additional gene information for N6AMT1 Gene

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

Genomics for N6AMT1 Gene

GeneHancer (GH) Regulatory Elements for N6AMT1 Gene

Promoters and enhancers for N6AMT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I028883 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.5 +0.2 214 2.7 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 N6AMT1 RPL12P9 RWDD2B PIR36969
GH21I029216 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 29.8 -334.6 -334578 7 PKNOX1 FOXA2 FEZF1 ZNF2 ZNF213 ZNF302 FOS DEK SP3 ZNF662 USP16 RPL23P2 LTN1 ENSG00000231125 RPL12P9 BACH1 N6AMT1 ENSG00000273254 CCT8 ENSG00000212479
GH21I028991 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.7 -107.4 -107444 2.6 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 LTN1 LOC105372766 USP16 CCT8 RPL12P9 RWDD2B RPL23P2 N6AMT1 ENSG00000231125 ENSG00000273254
GH21I029089 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 16.4 -206.2 -206213 3.6 HDGF HDAC1 FOXA2 MZF1 NFXL1 YBX1 RAD21 YY1 ZNF366 ZSCAN5C MAP3K7CL N6AMT1 USP16 RPL23P2 RWDD2B CCT8 GRIK1-AS1 LTN1 GRIK1 GC21P029079
GH21I029021 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 -138.9 -138851 4.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 USP16 ENSG00000273254 CCT8 BACH1 RWDD2B N6AMT1 LTN1 RPL12P9 RPL23P2 BACH1-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around N6AMT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the N6AMT1 gene promoter:

Genomic Locations for N6AMT1 Gene

Genomic Locations for N6AMT1 Gene
chr21:28,872,191-28,885,373
(GRCh38/hg38)
Size:
13,183 bases
Orientation:
Minus strand
chr21:30,244,513-30,257,693
(GRCh37/hg19)

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:
    • B2RA97
    • Q96F73

    Protein attributes for N6AMT1 Gene

    Size:
    214 amino acids
    Molecular mass:
    22957 Da
    Quaternary structure:
    • Heterodimer with TRMT112 (PubMed:18539146, PubMed:25851604).

    Alternative splice isoforms for N6AMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for N6AMT1 Gene

Post-translational modifications for N6AMT1 Gene

No Post-translational modifications

Other Protein References for N6AMT1 Gene

No data available for DME Specific Peptides for N6AMT1 Gene

Domains & Families for N6AMT1 Gene

Gene Families 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

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

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 18539146
GO:0008168 methyltransferase activity IEA --
GO:0008276 protein methyltransferase activity IDA 18539146
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for N6AMT1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for N6AMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 18539146
genes like me logo Genes that share ontologies with N6AMT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006415 translational termination TAS --
GO:0006479 protein methylation IEA --
GO:0030307 positive regulation of cell growth IDA 18539146
GO:0032259 methylation 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

(3) Drugs for N6AMT1 Gene - From: PharmGKB and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clopidogrel Approved Pharma P2Y12 receptor antagonist 814
Thioguanine Approved Pharma Purine antimetabolite 83
Lomeguatrib Pharma MGMT inhibitor 0

(2) ApexBio Compounds for N6AMT1 Gene

Compound Action Cas Number
Lomeguatrib MGMT inhibitor 192441-08-0
Thioguanine Purine antimetabolite 154-42-7
genes like me logo Genes that share compounds with N6AMT1: view

Drug Products

Transcripts for N6AMT1 Gene

Unigene Clusters for N6AMT1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for N6AMT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of N6AMT1 Gene:

N6AMT1

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.

Evidence on tissue expression from TISSUES for N6AMT1 Gene

  • Skin(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with N6AMT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia N6AMT1 33 34
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia LOC487715 33
  • 89.25 (n)
N6AMT1 34
  • 60 (a)
OneToOne
cow
(Bos Taurus)
Mammalia N6AMT1 34
  • 89 (a)
OneToOne
LOC615200 33
  • 87.69 (n)
mouse
(Mus musculus)
Mammalia N6amt1 33 16 34
  • 84.11 (n)
rat
(Rattus norvegicus)
Mammalia N6amt1 33
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia N6AMT1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves N6AMT1 33 34
  • 71.36 (n)
lizard
(Anolis carolinensis)
Reptilia N6AMT1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia n6amt1 33
  • 66.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21286 33
zebrafish
(Danio rerio)
Actinopterygii n6amt1 33 34
  • 59.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9960 33 34
  • 49.1 (n)
snapin 35
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009458 33
  • 47.99 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C33C12.9 33
  • 50.09 (n)
C33C12.9 35 34
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTQ2 34 36
  • 34 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G13440 33
  • 48.56 (n)
rice
(Oryza sativa)
Liliopsida Os03g0824200 33
  • 50.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC323.05c 33
  • 47.09 (n)
Species where no ortholog for N6AMT1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000004135 -- 28,788,978(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000025002 -- 28,784,339(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000029063 -- 28,647,695(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000036582 -- 28,733,054(-) T/C/G genic_downstream_transcript_variant, intron_variant
rs1000043813 -- 28,811,842(-) C/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2758818 CNV gain 17122850
esv3646788 CNV gain 21293372
nsv1062470 CNV loss 25217958
nsv9862 CNV gain 18304495

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)

Additional Variant Information for N6AMT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
N6AMT1

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

Disorders for N6AMT1 Gene

Additional Disease Information for N6AMT1

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

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 (Environmental health perspectives 2011) 2 3 4 58
  2. HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1. (PMID: 18539146) Figaro S … Heurgué-Hamard V (FEBS letters 2008) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58

Products for N6AMT1 Gene

Sources for N6AMT1 Gene

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