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N6AMT1 Gene

protein-coding   GIFtS: 54

GC21M029166
N-6 adenine-specific DNA methyltransferase 1 (putative)
(Previous names: chromosome 21 open reading frame 127, HemK methyltransferase family member 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: C21orf127, HEMK2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
C21orf127 2, 3
EC 2.1.1.- 3
HEMK2 2, 3
M.HsaHemK2P 3
MGC19995 2
MTQ2 1, 2
N6-DNA-methyltransferase 2
N6AMT 1, 2
OTTHUMP00000096393 2
OTTHUMP00000096394 2
PRED28 1, 2
Descriptions
HemK methyltransferase family member 2 1, 2, 3
N-6 adenine-specific DNA methyltransferase 1 2
N-6 adenine-specific DNA methyltransferase 1 (putative) 2
chromosome 21 open reading frame 127 1
External Ids
HGNC: 160211
Entrez Gene: 291042
UniProtKB: Q9Y5N53
Ensembl: ENSG000001562397
Search outside databases for aliases for N6AMT1 gene

Previous GC identifer: GC21M026827

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for N6AMT1:
The protein encoded by this gene belongs to the methyltransferase superfamily. Alternative splicing
occurs at this locus and two transcript variants encoding distinct isoforms have been identified.
[provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q21.3   Ensembl cytogenetic band:  21q21.3   HGNC cytogenetic band: 21q21.3

N6AMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M029166:     (about GC identifiers)

Start:
29,166,384 bp from pter
End:
29,179,564 bp from pter
Size:
13,181 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000021.7  NT_011512.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: N6MT1_HUMAN, Q9Y5N5 (See protein sequence)
Recommended Name: N(6)-adenine-specific DNA methyltransferase 1  
Size: 214 amino acids; 22901 Da

REFSEQ proteins (2 alternative transcripts): 
NP_037372.2  NP_877426.2  


ENSEMBL proteins: 
ENSP00000286764 ENSP00000303584 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HEMK2)
Human Recombinant Proteins from Abnova (N6AMT1)
              OriGene Purified Recombinant Human Protein: N6AMT1 


Antibodies for N6AMT1: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for N6AMT1
Browse R&D Systems for Antibodies
Antibodies from Abcam (HEMK2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (N6AMT1)
Novus Biologicals Antibodies for N6AMT1

Assays for N6AMT1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro domains/families:
 IPR007848 Small_mtfrase
 IPR002052 N6_adenine_Mtase_CS
 IPR004557 HemK_rel_arch


   GeneDecks  N6AMT1 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9Y5N5

ProtoNet protein and cluster: Q9Y5N5

1 Blocks protein family: IPB002052 N-6 Adenine-specific DNA methylase

UniProtKB/Swiss-Prot: N6MT1_HUMAN, Q9Y5N5
Similarity: Belongs to the hemK family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (N6AMT1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (N6AMT1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_182749

              Applied Biosystems Silencer® siRNAs for N6AMT1

              Sigma-Aldrich siRNA and siRNA Panels for N6AMT1  
                     Sigma-Aldrich shRNA Panels and shRNA for N6AMT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for N6AMT1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_013240
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_013240
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_013240 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_013240

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003676 nucleic acid binding IEA--
GO:0008168 methyltransferase activity IEA--
GO:0016740 transferase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Interacting proteins for N6AMT1 (ENSP000003035843 Q9Y5N52) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
HSPC152Q9UI302STRING (score=.775) MINT-6571489
ETF1ENSP000003537413STRING (score=.824)
DIMT1LENSP000001993203STRING (score=.796)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0032259 methylation IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for N6AMT1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (N6AMT1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (N6AMT1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_182749

              Sigma-Aldrich siRNA and siRNA Panels for N6AMT1  
                     Sigma-Aldrich shRNA Panels and shRNA for N6AMT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_013240  NM_182749  

REFSEQ mRNAs for N6AMT1 gene (2 alternative transcripts): 

NM_013240.3   NM_182749.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_013240  NM_182749  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_013240
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_013240
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_013240 

Additional cDNA sequence: 

AF139682.1 AK021678.1 AK225515.1 AK314100.1 BC011554.1 CR612892.1 CR616062.1 CR620576.1 

4 DOTS entries:

DT.91651052  DT.101976162  DT.100815348  DT.100832676 

24/70 AceView cDNA sequences (see all 70 ):

CR616062 CR620576 BF026677 BE348272 Z40121 CR612892 AU118636 AI523341 
F07022 NM_182749 AI424903 BU625644 AL520475 AI951414 BX281239 NM_013240 
BX506362 AK092128 AL699341 BQ710426 AI311671 BU621448 BC011554 AL558133 

highest scoring ESTs for N6AMT1:

AI421382 AL558133 AL699341 AU099867 AU280589 BC011554 BG477556 BI520047 BI520950 BM312701 

Unigene Cluster for N6AMT1:

N-6 adenine-specific DNA methyltransferase 1 (putative)
Hs.163846  [show with all ESTs]
Unigene Representative Sequence: CR612892


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for N6AMT1

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:                                                            
SP2:                                -                           
SP3:                                -                           

About this scheme

ECgene alternative splicing isoforms for N6AMT1

2 Ensembl transcripts including schematic representations:
ENST00000351429  ENST00000303775  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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N6AMT1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for N6AMT1

1 / 2 / 3

7 probe-sets matching N6AMT1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
47395_at2, 3 U95-B 1 1.00 1.00 -0.17 0.97 AA825430 0.40 1.00 0.76 1

55877_at2, 3 U95-B 1 1.00 1.00 0.91 0.76 AI684642 0.40 1.00 0.76 1

82238_at2, 3 U95-D 3 1.00 0.70 0.79 1.27 AI421382 0.80 1.00 0.91 1

220311_at2, 3 U133-A 3 1.00 0.70 -- -- NM_013240 0.40 1.00 0.76 1

234676_s_at*2, 3 U133-B 1 1.00 1.00 -- -- AK021678 0.40 1.00 0.76 1

220311_at2 U133Plus2 3 1.00 0.70 -- -- -- -- -- -- --

234676_s_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  N6AMT1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AAGGACCCCT

SOURCE GeneReport for Unigene cluster: Hs.163846
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for N6AMT1 gene from 5/15 species (see all 15 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
N6AMT11   -- N-6 adenine-specific DNA methyltransferase 1 (putative) 88.94(n)
88.79(a)
487715  XM_544839.2  XP_544839.2 
chimpanzee
(Pan troglodytes)
N6AMT11   -- N-6 adenine-specific DNA methyltransferase 1 (putative) 98.44(n)
96.73(a)
470059  XM_525443.2  XP_525443.2 
cow
(Bos taurus)
N6AMT11   -- N-6 adenine-specific DNA methyltransferase 1 (putative) 87.38(n)
89.25(a)
615200  XM_866941.2  XP_872034.2 
rat
(Rattus norvegicus)
N6amt11   -- N-6 adenine-specific DNA methyltransferase 1 (putative) 83.49(n)
87.38(a)
288309  XM_213675.3  XP_213675.1 
mouse
(Mus musculus)
N6amt11, 5 165
N-6 adenine-specific DNA methyltransferase 1 (putative)1, 5 83.8(n)1
85.98(a)1
677681  NM_026366.11  NP_080642.11 
 AI6615605  AK0120195  (see all 17)
About this table        Species with no ortholog for N6AMT1

ENSEMBL Gene Tree for N6AMT1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Pseudogenes
1 related pseudogene


(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/159 NCBI SNPs in N6AMT1 are shown (see all 159 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 70)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 21 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs22550131,2
A,C,F,H,O29180955(+) TACGGT/CGTATT 2 -- ng3112Minor allele frequency- C:0.05NA EU EA WA 990
rs22550111,2
A,C,F,H29180901(+) AACATG/TGATCT 2 -- ng314Minor allele frequency- T:0.03NA EA WA 307
rs81340051,2
A,C,F,H29166041(+) tcattG/Aactca 2 -- ng514Minor allele frequency- A:0.31EU EA WA 418
rs10485461,2
A,C,F,H29166748(-) AACAGC/ATAGCT 2 -- ut3116Minor allele frequency- A:0.49EU EA WA NA MN 1572
rs27389661,2
A,C,F,H29180683(+) ttaacA/Gcaccc 2 -- ng314Minor allele frequency- G:0.42EU EA WA 418
rs20652661,2
A,C,F,H29167110(+) aatctC/Tgtctg 2 -- ut317Minor allele frequency- T:0.28EU EA WA NA 522
--
rs19877881,2
C,F,H29170217(+) ACACCG/TGAGAT 2 -- ut314Minor allele frequency- T:0.02EU EA WA 406
rs46388731,2
C,F,H29168752(+) ttcttG/Atcacc 2 -- ut318Minor allele frequency- A:0.30EU EA WA 822
rs19877861,2
C,F,H29169831(+) ctggtG/Ataaca 2 -- ut317Minor allele frequency- A:0.28EU EA WA NA 546
rs28597341,2
C,F,H29179600(+) CCCTCG/ACCCTC 2 -- ng314Minor allele frequency- A:0.37EU EA WA 416
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HapMap Linkage Disequilibrium images for N6AMT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

7 PubMed articles for N6AMT1 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 29104 HGNC: 16021 AceView: C21orf127 Ensembl:ENSG00000156239 euGenes: HUgn29104
ECgene: N6AMT1 H-InvDB: N6AMT1
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for N6AMT1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
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 Predesigned and custom siRNAs for N6AMT1 Antibodies for N6AMT1
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for N6AMT1 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant Proteins
(HEMK2)
 Antibodies (HEMK2)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for N6AMT1




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for N6AMT1

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