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    N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) [ Homo sapiens (human) ]

    Gene ID: 29104, updated on 13-Jun-2016
    Official Symbol
    N6AMT1provided by HGNC
    Official Full Name
    N-6 adenine-specific DNA methyltransferase 1 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:16021
    See related
    Ensembl:ENSG00000156239 HPRD:10739; MIM:614553; Vega:OTTHUMG00000078750
    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
    Also known as
    MTQ2; HEMK2; N6AMT; PRED28; C21orf127; m.HsaHemK2P
    Summary
    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]
    Orthologs
    Location:
    21q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (28571095..28885373, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30244513..30257695, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372764 Neighboring gene long intergenic non-protein coding RNA 161 Neighboring gene THUMP domain containing 1 pseudogene 1 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Eukaryotic Translation Termination, organism-specific biosystem (from REACTOME)
      Eukaryotic Translation Termination, organism-specific biosystemThe arrival of any of the three stop codons (UAA, UAG and UGA) into the ribosomal A-site triggers the binding of a release factor (RF) to the ribosome and subsequent polypeptide chain release. In euk...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Methylation, organism-specific biosystem (from REACTOME)
      Methylation, organism-specific biosystemMethylation is a common but minor pathway of Phase II conjugation compared to glucuronidation or sulfonation. The cofactor used in methylation conjugation is S-adenosylmethionine (SAM). SAM is the ...
    • Phase II conjugation, organism-specific biosystem (from REACTOME)
      Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
    • Translation, organism-specific biosystem (from REACTOME)
      Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11616, MGC19995

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    methylation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein methylation IEA
    Inferred from Electronic Annotation
    more info
     
    translational termination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hemK methyltransferase family member 2
    Names
    N6-DNA-methyltransferase
    n(6)-adenine-specific DNA methyltransferase 1
    NP_037372.4
    NP_877426.4

    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_013240.5NP_037372.4  hemK methyltransferase family member 2 isoform 1

      See identical proteins and their annotated locations for NP_037372.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF139682, AF227510, AW136986, BP317563
      Consensus CDS
      CCDS33526.1
      UniProtKB/Swiss-Prot
      Q9Y5N5
      UniProtKB/TrEMBL
      B2RA97
      Related
      ENSP00000303584, OTTHUMP00000096393, ENST00000303775, OTTHUMT00000171738
      Conserved Domains (2) summary
      cd02440
      Location:50175
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
      COG2890
      Location:20190
      HemK; Methylase of polypeptide chain release factors [Translation, ribosomal structure and biogenesis]
    2. NM_182749.4NP_877426.4  hemK methyltransferase family member 2 isoform 2

      See identical proteins and their annotated locations for NP_877426.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AF227510, AW136986, BC011554, BP317563
      Consensus CDS
      CCDS33525.1
      UniProtKB/Swiss-Prot
      Q9Y5N5
      Related
      ENSP00000286764, OTTHUMP00000096394, ENST00000351429, OTTHUMT00000171739
      Conserved Domains (1) summary
      cl17173
      Location:21185
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RNA

    1. NR_047510.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF227510, AK225515, BP317563, BQ021620, BU631971

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      28571095..28885373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001754832.1 RNA Sequence

    2. XR_001754830.1 RNA Sequence

    3. XR_001754831.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      29806890..29820072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)