Human Gene N6AMT1 (ENST00000351429.7) from GENCODE V44
  Description: Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (N6AMT1), transcript variant 2, mRNA. (from RefSeq NM_182749)
RefSeq Summary (NM_013240): 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].
Gencode Transcript: ENST00000351429.7
Gencode Gene: ENSG00000156239.12
Transcript (Including UTRs)
   Position: hg38 chr21:28,872,191-28,885,371 Size: 13,181 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr21:28,876,385-28,885,345 Size: 8,961 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:28,872,191-28,885,371)mRNA (may differ from genome)Protein (186 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HEMK2_HUMAN
DESCRIPTION: RecName: Full=HemK methyltransferase family member 2; EC=2.1.1.-; AltName: Full=M.HsaHemK2P; AltName: Full=N(6)-adenine-specific DNA methyltransferase 1;
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.
SUBUNIT: Heterodimer with TRMT112.
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.
SIMILARITY: Belongs to the eukaryotic/archaeal PrmC-related family.
CAUTION: Was originally (Ref.1) proposed to be a DNA methyltransferase, but was then shown to be a protein methyltransferase (PubMed:18539146).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.85 RPKM in Ovary
Total median expression: 157.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.4026-0.169 Picture PostScript Text
3' UTR -1270.104194-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002052 - DNA_methylase_N6_adenine_CS
IPR004557 - HemK-rel_arch

ModBase Predicted Comparative 3D Structure on Q9Y5N5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008276 protein methyltransferase activity
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity
GO:0016740 transferase activity

Biological Process:
GO:0006479 protein methylation
GO:0030307 positive regulation of cell growth
GO:0032259 methylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK021678 - Homo sapiens cDNA FLJ11616 fis, clone HEMBA1004038.
AK092128 - Homo sapiens cDNA FLJ34809 fis, clone NT2NE2006942.
AK225515 - Homo sapiens mRNA for N6-DNA-methyltransferase isoform 1 variant, clone: KAT06375.
JD566233 - Sequence 547257 from Patent EP1572962.
JD536940 - Sequence 517964 from Patent EP1572962.
JD250582 - Sequence 231606 from Patent EP1572962.
JD420690 - Sequence 401714 from Patent EP1572962.
JD303867 - Sequence 284891 from Patent EP1572962.
JD167930 - Sequence 148954 from Patent EP1572962.
JD349139 - Sequence 330163 from Patent EP1572962.
JD488078 - Sequence 469102 from Patent EP1572962.
JD164195 - Sequence 145219 from Patent EP1572962.
JD509381 - Sequence 490405 from Patent EP1572962.
JD274303 - Sequence 255327 from Patent EP1572962.
JD289826 - Sequence 270850 from Patent EP1572962.
JD052458 - Sequence 33482 from Patent EP1572962.
JD467199 - Sequence 448223 from Patent EP1572962.
JD235243 - Sequence 216267 from Patent EP1572962.
JD089988 - Sequence 71012 from Patent EP1572962.
JD504182 - Sequence 485206 from Patent EP1572962.
JD475463 - Sequence 456487 from Patent EP1572962.
AF139682 - Homo sapiens putative N5-methyl-Gln methyltransferase mRNA, complete cds.
BC011554 - Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative), mRNA (cDNA clone MGC:19995 IMAGE:4640080), complete cds.
AK314100 - Homo sapiens cDNA, FLJ94785, Homo sapiens putative N6-DNA-methyltransferase (N6AMT1), mRNA.
AB590951 - Synthetic construct DNA, clone: pFN21AE1708, Homo sapiens N6AMT1 gene for N-6 adenine-specific DNA methyltransferase 1, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5N5 (Reactome details) participates in the following event(s):

R-HSA-6800138 N6AMT1:TRMT112 transfers CH3 group from AdoMet to ETF1 dimer
R-HSA-6800149 N6AMT1:TRMT112 transfers CH3 group from AdoMet to MMAIII
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-156581 Methylation
R-HSA-72766 Translation
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-392499 Metabolism of proteins
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf127, ENST00000351429.1, ENST00000351429.2, ENST00000351429.3, ENST00000351429.4, ENST00000351429.5, ENST00000351429.6, HEMK2, HEMK2_HUMAN, NM_182749, PRED28, Q96F73, Q9Y5N5, uc002ymp.1, uc002ymp.2, uc002ymp.3
UCSC ID: ENST00000351429.7
RefSeq Accession: NM_013240
Protein: Q9Y5N5 (aka HEMK2_HUMAN)
CCDS: CCDS33525.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.