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

    Gene ID: 29104, updated on 7-Aug-2021

    Summary

    Official Symbol
    N6AMT1provided by HGNC
    Official Full Name
    N-6 adenine-specific DNA methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:16021
    See related
    Ensembl:ENSG00000156239 MIM:614553
    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
    KMT9; MTQ2; PrmC; 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]
    Expression
    Ubiquitous expression in prostate (RPKM 1.2), ovary (RPKM 1.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See N6AMT1 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (28439661..28885367, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30244513..30257689, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724420 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11616, MGC19995

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of eRF1 methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methyltransferase N6AMT1
    Names
    HemK methyltransferase family member 2
    N-6 adenine-specific DNA methyltransferase 1 (putative)
    N6-DNA-methyltransferase
    lysine N-methyltransferase 9
    methylarsonite methyltransferase N6AMT1
    protein N(5)-glutamine methyltransferase
    NP_037372.4
    NP_877426.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013240.6NP_037372.4  methyltransferase N6AMT1 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, AMYH02037685, AW136986, BP317563, KC877845
      Consensus CDS
      CCDS33526.1
      UniProtKB/Swiss-Prot
      Q9Y5N5
      Related
      ENSP00000303584.5, ENST00000303775.10
      Conserved Domains (1) summary
      cl17173
      Location:21213
      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). ...
    2. NM_182749.5NP_877426.4  methyltransferase N6AMT1 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, AMYH02037685, AW136986, BC011554, BP317563, KC877845
      Consensus CDS
      CCDS33525.1
      UniProtKB/Swiss-Prot
      Q9Y5N5
      Related
      ENSP00000286764.4, ENST00000351429.7
      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_047510.3 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)
      AK225515, BP317563, BQ021620, BU631971

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

      Range
      28439661..28885367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_002958591.1 RNA Sequence

    2. XR_001754830.1 RNA Sequence

    3. XR_001754831.2 RNA Sequence

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