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

Gene ID: 29104, updated on 6-Nov-2022

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; AllianceGenome:HGNC:16021
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:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (28575598..28885367, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27235374..27248586, complement)
105.20220307 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 long intergenic non-protein coding RNA 1697 Neighboring gene long intergenic non-protein coding RNA 1695 Neighboring gene long intergenic non-protein coding RNA 161 Neighboring gene U6 spliceosomal RNA 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)

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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
    Q96F73, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    28575598..28885367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007067787.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    27235374..27248586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)