N6AMT1 Gene
protein-coding GIFtS: 51
GCID: GC21M030244
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N-6 adenine-specific DNA methyltransferase 1 (putative)(Previous names: chromosome 21 open reading frame 127, HemK methyltransferase...)
(Previous symbols: C21orf127, HEMK2)
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Aliases
for N6AMT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| N-6 Adenine-Specific DNA Methyltransferase 1 (Putative)1 2 | | PRED281 | | C21orf1271 2 3 | | Chromosome 21 Open Reading Frame 1271 | | HEMK21 2 3 | | N6-DNA-Methyltransferase1 | | MTQ21 2 | | M.HsaHemK2P3 | | N6AMT1 2 | | EC 2.1.1.-3 | | HemK Methyltransferase Family Member 21 2 | | M.HsaHemK2P3 | | N(6)-Adenine-Specific DNA Methyltransferase 12 3 | | |
Export aliases for N6AMT1 gene to outside databasesPrevious GC identifers: GC21M026827 GC21M029166 GC21M015649 |
Summaries
for N6AMT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for N6AMT1:
This gene encodes protein methyltransferase. The encoded enzyme may be involved in the methylation of release factor Iduring translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonousacid to the less toxic dimethylarsonic acid. Alternate splicing results in multiple transcript variants. A pseudogeneof this gene is found on chromosome 11. (provided by RefSeq, Mar 2012)
UniProtKB/Swiss-Prot: HEMK2_HUMAN, Q9Y5N5Function: Heterodimeric methyltransferase that catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosylL-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 monomethylarsonousacid (3+) into the less toxic dimethylarsonic acid
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Genomic Views
for N6AMT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000021.8 NC_018932.1 NT_011512.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the N6AMT1 gene promoter:
E2F-4 E2F-3a E2F-5 NCX/Ncx Nkx2-2 E2F-2 YY1 E2F Ik-2 E2F-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for N6AMT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat N6AMT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 21q21.3 Ensembl cytogenetic band: 21q21.3 HGNC cytogenetic band: 21q21.3N6AMT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 21 GeneLoc Exon Structure GeneLoc location for GC21M030244: view genomic region
(about GC identifiers)
Start:
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30,244,513 bp from pter |
End:
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30,257,693 bp from pter |
Size:
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13,181 bases |
Orientation:
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minus strand |
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Proteins
for N6AMT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HEMK2_HUMAN, Q9Y5N5 (See
protein sequence)Recommended Name: HemK methyltransferase family member 2 Size: 214 amino acids; 22900 Da
Subunit: Heterodimer with TRMT112
Caution: Was originally (Ref.1) proposed to be a DNA methyltransferase, but was then shown to be a proteinmethyltransferase (PubMed:18539146)
Secondary accessions: Q96F73Alternative splicing: 2 isoforms: Q9Y5N5-1 Q9Y5N5-2 Explore the universe of human proteins at neXtProt for N6AMT1: NX_Q9Y5N5
N6AMT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_037372.3 NP_877426.3
ENSEMBL proteins: ENSP00000303584 ENSP00000286764 ENSP00000436490
Human Recombinant Protein Products for N6AMT1:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
N6AMT1 for ontologies About GeneDecksing
N6AMT1 Antibody Products:
Assay Products for N6AMT1: |
Protein
Domains /
Families
for N6AMT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
N6AMT1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y5N5ProtoNet protein and cluster: Q9Y5N5 1 Blocks protein family: IPB002052 N-6 Adenine-specific DNA methylase
UniProtKB/Swiss-Prot: HEMK2_HUMAN, Q9Y5N5Similarity: Belongs to the eukaryotic/archaeal PrmC-related family |
Function
for N6AMT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: HEMK2_HUMAN, Q9Y5N5Function: Heterodimeric methyltransferase that catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosylL-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 monomethylarsonousacid (3+) into the less toxic dimethylarsonic acid Enzyme Number (IUBMB): EC 2.1.1.-1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
N6AMT1 for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for N6AMT1:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for N6amt1):
N6AMT1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out N6amt1tm1Gxu for N6AMT1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for N6AMT1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for N6AMT1 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N6AMT1 |
|
Pathways & Interactions
for N6AMT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for N6AMT1
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/21 Interacting proteins for N6AMT1 (Q9Y5N52, 3 ENSP000003035844) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
N6AMT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for N6AMT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for N6AMT1
Search CenterWatch for drugs/clinical trials and news about N6AMT1 / HEMK2
|
Transcripts
for N6AMT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for N6AMT1 gene (2 alternative transcripts): NM_013240.4 NM_182749.3 Unigene Cluster for N6AMT1: N-6 adenine-specific DNA methyltransferase 1 (putative) Hs.163846 [show with all ESTs]Unigene Representative Sequence: AK0216783 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000303775(uc002ymo.1) ENST00000351429(uc002ymp.1) ENST00000460212(uc002ymq.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for N6AMT1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for N6AMT1 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): N6AMT1 (NM_013240) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for N6AMT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat N6AMT1 |
Additional cDNA sequence: AF139682.1 AK021678.1 AK225515.1 AK314100.1 BC011554.1 NR_047510.1 4 DOTS entries: DT.91651052 DT.101976162 DT.100815348 DT.100832676 24/70 AceView cDNA sequences (see all 70): BF026677 CR620576 CR616062 BE348272 CR612892 Z40121 NM_182749 BQ710426 AI523341 AL558133 AW136986 AI684642 BU625644 AI424903 AK021678 BX328055 AI421382 AF139682 BM312393 AW591705 F07022 BC011554 AK092128 NM_013240
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for N6AMT1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
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| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for N6AMT1
|
Expression
for N6AMT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| N6AMT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGACCCCT
About this image
See N6AMT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for N6AMT1
SOURCE GeneReport for Unigene cluster: Hs.163846
UniProtKB/Swiss-Prot: HEMK2_HUMAN, Q9Y5N5Tissue specificity: Widely expressed, with highest expression in parathyroid and pituitary glands, followed by adrenalgland and kidney, and lowest expression in leukocytes and mammary gland
SABiosciences Custom PCR Arrays for N6AMT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for N6AMT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat N6AMT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat N6AMT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat N6AMT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N6AMT1 |
Orthologs
for N6AMT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for N6AMT1 gene from 9/30 species (see all 30) About this table
ENSEMBL Gene Tree for N6AMT1 (if available)
TreeFam Gene Tree for N6AMT1 (if available) |
Paralogs
for N6AMT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for N6AMT1 gene
1 SIMAP similar gene for N6AMT1 using alignment to 1 protein entry: HEMK2_HUMAN:HEMK2
N6AMT1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for N6AMT1
PGOHUM00000242428
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Genomic Variants
for N6AMT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for N6AMT1 (30244513 - 30257693 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for N6AMT1
2 CNVs: 3232 31063 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing N6AMT1 |
|
Disorders
/ Diseases
for N6AMT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
N6AMT1 for disorders About GeneDecksing
OMIM gene information: 614553
OMIM disorders: --
1  disease for N6AMT1: About MalaCardsmalaria
Human Genome Epidemiology (HuGE) Navigator: N6AMT1 (1 document)
Export disorders for N6AMT1 gene to outside databases
|
Publications
for N6AMT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for N6AMT1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with N6AMT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1. (PubMed id 18539146)1, 2, 9 Figaro S....Heurgue-Hamard V. (2008)
- Involvement of N-6 adenine-specific DNA methyltransfe rase 1 (N6AMT1) in arsenic biomethylation and its role in arsenic-induced toxic ity. (PubMed id 21193388)1, 2 Ren X....Zhang L. (2011)
- The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)
|
External Searches for N6AMT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing N6AMT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing N6AMT1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing N6AMT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for N6AMT1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for N6AMT1 gene:
Search GeneIP for patents involving N6AMT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for N6AMT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat N6AMT1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing N6AMT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat N6AMT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat N6AMT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat N6AMT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat N6AMT1 |
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 | | | N6AMT1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N6AMT1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat N6AMT1 |
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