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NT5M Gene

protein-coding   GIFtS: 58
GCID: GC17P017206

5',3'-Nucleotidase, Mitochondrial

(Previous names: 5' nucleotidase, mitochondrial)
  See NT5M-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
5',3'-Nucleotidase, Mitochondrial1 2 3     5(3)-deoxyribonucleotidase2
5' Nucleotidase, Mitochondrial1 2     dNT22
Deoxy-5'-Nucleotidase 22 3     mdN2
dNT-22 3     Mitochondrial 5' Nucleotidase2
DNT23 5     EC 3.1.3.-3
5'(3')-Deoxyribonucleotidase, Mitochondrial2     EC 3.1.38

External Ids:    HGNC: 157691   Entrez Gene: 569532   Ensembl: ENSG000002053097   OMIM: 6052925   UniProtKB: Q9NPB13   

Export aliases for NT5M gene to outside databases

Previous GC identifers: GC17P017521 GC17P018565 GC17P017149 GC17P017407 GC17P017147 GC17P016959


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NT5M Gene:
This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the
5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the
Smith-Magenis syndrome region on chromosome 17. (provided by RefSeq, Jul 2008)

GeneCards Summary for NT5M Gene:
NT5M (5',3'-nucleotidase, mitochondrial) is a protein-coding gene. Diseases associated with NT5M include dentin sensitivity. GO annotations related to this gene include nucleotidase activity and nucleotide binding. An important paralog of this gene is NT5C.

UniProtKB/Swiss-Prot: NT5M_HUMAN, Q9NPB1
Function: Dephosphorylates specifically the 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides,
and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NT5M gene promoter:
         E2F-4   E2F-3a   E2F-5   p53   POU3F1   E2F-2   CUTL1   E2F   E2F-1   GCNF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NT5M

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NT5M


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

NT5M Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5M gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P017206:  view genomic region     (about GC identifiers)

Start:
17,206,649 bp from pter      End:
17,250,977 bp from pter
Size:
44,329 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NT5M_HUMAN, Q9NPB1 (See protein sequence)
Recommended Name: 5'(3')-deoxyribonucleotidase, mitochondrial precursor  
Size: 228 amino acids; 25862 Da
Cofactor: Magnesium
Subunit: Homodimer (Probable)
Selected PDB 3D structures from and Proteopedia for NT5M (see all 12):
1MH9 (3D)        1Q91 (3D)        1Q92 (3D)        1Z4I (3D)        1Z4J (3D)        1Z4K (3D)    

Explore the universe of human proteins at neXtProt for NT5M: NX_Q9NPB1

Explore proteomics data for NT5M at MOPED

2 DME Specific Peptides for NT5M (Q9NPB1)
 GVLADFE  DLLIDDRP 


See NT5M Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_064586.1  
ENSEMBL proteins: 
 ENSP00000373674   ENSP00000464303   ENSP00000463674   ENSP00000467567  
Reactome Protein details: Q9NPB1

NT5M Human Recombinant Protein Products:

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Novus Biologicals NT5M Proteins
Novus Biologicals NT5M Lysate
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ProSpec Recombinant Protein for NT5M
Cloud-Clone Corp. Proteins for NT5M

 
Search eBioscience for Proteins for NT5M 

NT5M Antibody Products:

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LSBio Antibodies in human, mouse, rat for NT5M

NT5M Assay Products:

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Browse Enzo Life Sciences for kits & assays
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Cloud-Clone Corp. CLIAs for NT5M
Search eBioscience for ELISAs for NT5M 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial 5a-nucleotidase
Adenosine turnover

2 InterPro protein domains:
 IPR023214 HAD-like_dom
 IPR010708 5'(3')-deoxyribonucleotidase

Graphical View of Domain Structure for InterPro Entry Q9NPB1

ProtoNet protein and cluster: Q9NPB1

1 Blocks protein domain: IPB010708 5 nucleotidase

UniProtKB/Swiss-Prot: NT5M_HUMAN, Q9NPB1
Similarity: Belongs to the 5'(3')-deoxyribonucleotidase family


Find genes that share domains with NT5M           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NT5M_HUMAN, Q9NPB1
Function: Dephosphorylates specifically the 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides,
and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP

     Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.-1

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000166nucleotide binding IEA--
GO:0008252nucleotidase activity TAS10899995
GO:00082535'-nucleotidase activity EXP--
GO:0016791phosphatase activity ----
GO:0046872metal ion binding IEA--
     
Find genes that share ontologies with NT5M           About GenesLikeMe


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NT5M
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NT5M

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NT5M
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NT5M

miRNA
Products:
    
miRTarBase miRNAs that target NT5M:
hsa-mir-192-5p (MIRT026399), hsa-mir-215-5p (MIRT024559)

Block miRNA regulation of human, mouse, rat NT5M using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate NT5M:
hsa-miR-4310 hsa-miR-1207-5p
SwitchGear 3'UTR luciferase reporter plasmidNT5M 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for NT5M
Predesigned siRNA for gene silencing in human, mouse, rat NT5M

Gene Editing
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DNA2.0 Custom Protein Engineering Service for NT5M

Clone
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OriGene ORF clones in mouse, rat for NT5M
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GenScript: all cDNA clones in your preferred vector: NT5M (NM_020201)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NT5M
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NT5M

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5M


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NT5M_HUMAN, Q9NPB1: Mitochondrion
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
peroxisome2
nucleus1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion TAS10899995
GO:0005759mitochondrial matrix TAS--

Find genes that share ontologies with NT5M           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for NT5M About    
See pathways by source

SuperPathContained pathways About
1Nicotinate and nicotinamide metabolism
Nicotinate and nicotinamide metabolism0.43
NAD metabolism0.43
2Metabolism
Metabolism0.38
Metabolic pathways0.38
3Purine metabolism (KEGG)
Purine metabolism0.38
Pyrimidine metabolism0.38
4Pyrimidine metabolism
Pyrimidine metabolism0.33
Pyrimidine catabolism0.00
5Purine metabolism (REACTOME)
Metabolism of nucleotides0.42


Find genes that share SuperPaths with NT5M           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 GeneGo (Thomson Reuters) Pathway for NT5M
    NAD metabolism

1 Reactome Pathway for NT5M
    Pyrimidine catabolism


4 Kegg Pathways  (Kegg details for NT5M):
    Purine metabolism
Pyrimidine metabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NT5M
Interactions:

    Search GeneGlobe Interaction Network for NT5M

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for NT5M (ENSP000003736744) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
InteractantInteraction Details
GeneCardExternal ID(s)
AK2ENSP000003469214STRING: ENSP00000346921
ATICENSP000002369594STRING: ENSP00000236959
CDAENSP000003642124STRING: ENSP00000364212
CMPK1ENSP000003609394STRING: ENSP00000360939
CMPK2ENSP000002567224STRING: ENSP00000256722
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006206pyrimidine nucleobase metabolic process TAS--
GO:0006260DNA replication TAS10899995
GO:0009223pyrimidine deoxyribonucleotide catabolic process TAS10899995
GO:0016311dephosphorylation TAS10899995
GO:0044281small molecule metabolic process TAS--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NT5M

Selected HMDB Compounds for NT5M (see all 29)    About this table
CompoundSynonyms CAS #PubMed Ids
2'-Deoxyguanosine 5'-monophosphate2'-Deoxy-5'-GMP (see all 21)902-04-5--
5-Thymidylic acid2'-Deoxythymidine 5'-monophosphate (see all 28)365-07-1--
Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
Adenosine monophosphate5'-AMP (see all 28)61-19-8--
Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
Cytidine monophosphate5'-CMP (see all 14)63-37-6--
Deoxyadenosine1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose (see all 22)958-09-8--
Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
Deoxycytidine1-(2-Deoxy-b-D-ribofuranosyl)cytosine (see all 15)951-77-9--
Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--

2 DrugBank Compounds for NT5M    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Dpb-T-- --target--17139284 17016423 10592235
cyclic 3',5'-thymidine monophosphate2',3'-dehydro-2',3'-deoxy-thymidine 5'-monophosphate (see all 7)--target--10592235

1 Novoseek inferred chemical compound relationship for NT5M gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
thymidine 46 7 14747464 (3), 12352955 (1), 15044615 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NT5M gene: 
NM_020201.3  

Unigene Cluster for NT5M:

5',3'-nucleotidase, mitochondrial
Hs.513977  [show with all ESTs]
Unigene Representative Sequence: NM_020201
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000389022(uc002grf.3 uc002grg.3) ENST00000478373 ENST00000470418
ENST00000483704 ENST00000582909 ENST00000480529
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat NT5M using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate NT5M:
hsa-miR-4310 hsa-miR-1207-5p
SwitchGear 3'UTR luciferase reporter plasmidNT5M 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for NT5M
Predesigned siRNA for gene silencing in human, mouse, rat NT5M
Clone
Products:
     
OriGene clones in human, mouse for NT5M (see all 6)
OriGene ORF clones in mouse, rat for NT5M
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NT5M (NM_020201)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NT5M
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NT5M
Primer
Products:
    
OriGene qPCR primer pairs and template standards for NT5M
OriGene qSTAR qPCR primer pairs in human, mouse for NT5M
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NT5M
  QuantiTect SYBR Green Assays in human, mouse, rat NT5M
  QuantiFast Probe-based Assays in human, mouse, rat NT5M

Additional mRNA sequence: 

AF210652.1 BC035838.1 DQ323995.1 

4 DOTS entries:

DT.442499  DT.100739089  DT.75117837  DT.99938163 

Selected AceView cDNA sequences (see all 49):

NM_020201 BQ933896 BF431576 BC035838 CR602400 AI085646 BQ943179 BI255109 
AW205623 BF592121 BX116854 AW137930 BE044441 BF528105 T95938 AA323580 
BX327438 BM723748 AF210652 BG819613 AA774519 AL526310 AL514954 BU620529 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NT5M expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NT5M Expression
About this image


NT5M expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Brain (Nervous System)
         Medulla Oblongata
NT5M Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NT5M Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.513977

UniProtKB/Swiss-Prot: NT5M_HUMAN, Q9NPB1
Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at very low levels in kidney
and pancreas

    Custom PCR Arrays for NT5M
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QuantiFast Probe-based Assays in human, mouse, rat NT5M
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5M

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for NT5M gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nt5m1 , 5 5',3'-nucleotidase, mitochondrial1, 5 90.83(n)1
93.65(a)1
  11 (37.80 cM)5
1038501  NM_134029.21  NP_598790.11 
 598394475 
chicken
(Gallus gallus)
Aves NT5M1 5',3'-nucleotidase, mitochondrial 80.95(n)
86.24(a)
  416505  XM_414809.4  XP_414809.2 
lizard
(Anolis carolinensis)
Reptilia NT5M6
5',3'-nucleotidase, mitochondrial
65(a)
1 ↔ 1
GL343500.1(349090-359564)
tropical clawed frog
(Xenopus tropicalis)
Amphibia nt5m1 5',3'-nucleotidase, mitochondrial 74.96(n)
80.95(a)
  448172  NM_001005673.2  NP_001005673.2 


ENSEMBL Gene Tree for NT5M (if available)
TreeFam Gene Tree for NT5M (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NT5M gene
NT5C2  
1 SIMAP similar gene for NT5M using alignment to 4 protein entries:     NT5M_HUMAN (see all proteins):
NT5C

Find genes that share paralogs with NT5M           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NT5M (see all 984)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs350392031,2
C,F--17204715(+) CCAATC/GAGCAC 1 -- us2k14Minor allele frequency- G:0.09NA 126
rs1868467171,2
--17204823(+) CTACCC/TTTTCT 1 -- us2k10--------
rs1916876381,2
--17205022(+) CCCCAG/TTCTTC 1 -- us2k10--------
rs1442939341,2
C--17205061(+) GCCAAA/GTGGTG 1 -- us2k10--------
rs1823664281,2
--17205141(+) CGAGGC/GGGGTG 1 -- us2k10--------
rs1854931071,2
--17205235(+) GCCGGC/GTGCGG 1 -- us2k10--------
rs1163574771,2
C,F--17205740(+) CGGTGA/GCCTAC 1 -- us2k11Minor allele frequency- G:0.07WA 118
rs1896707881,2
--17205769(+) AGGAGA/GGTGAG 1 -- us2k10--------
rs791936991,2
C,F--17205788(+) AACTAC/GCTATC 1 -- us2k11Minor allele frequency- G:0.06WA 118
rs1170810611,2
C,F--17205860(+) TTTATA/GTAACA 1 -- us2k11Minor allele frequency- G:0.03EA 120

HapMap Linkage Disequilibrium report for NT5M (17206649 - 17250977 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for NT5M (see all 19):    About this table    
Variant IDTypeSubtypePubMed ID
esv2715717CNV Deletion23290073
esv2659771CNV Deletion23128226
esv2673352CNV Deletion23128226
esv2813CNV Deletion18987735
esv5295CNV Deletion18987735
esv2715719CNV Deletion23290073
esv2715720CNV Deletion23290073
esv2715716CNV Deletion23290073
esv1198553CNV Deletion17803354
esv6568CNV Loss19470904

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NT5M
DNA2.0 Custom Variant and Variant Library Synthesis for NT5M

(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.)
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OMIM gene information: 605292    OMIM disorders: --

1 disease for NT5M:    
About MalaCards
dentin sensitivity

1 disease from the University of Copenhagen DISEASES database for NT5M:
Dentin sensitivity

Find genes that share disorders with NT5M           About GenesLikeMe

Genetic Association Database (GAD): NT5M
Human Genome Epidemiology (HuGE) Navigator: NT5M (1 document)

Export disorders for NT5M gene to outside databases

(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)
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PubMed articles for NT5M gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with NT5M)
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  1. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. (PubMed id 10899995)1, 2, 3 Rampazzo C....Bianchi V. (Proc. Natl. Acad. Sci. U.S.A. 2000)
  2. Crystal structure of a human mitochondrial deoxyribonucleotidase. (PubMed id 12352955)1, 2, 9 Rinaldo-Matthis A.... Nordlund P. (Nat. Struct. Biol. 2002)
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspects. (PubMed id 12124385)1, 9 Gallinaro L....Bianchi V. (J. Biol. Chem. 2002)
  6. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)
  7. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
  8. Structural basis for substrate specificity of the human mitochondrial deoxyribonucleotidase. (PubMed id 16004879)1 WalldAcn K....Nordlund P. (Structure 2005)
  9. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (Nucleic Acids Res. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 56953 HGNC: 15769 AceView: NT5M Ensembl:ENSG00000205309 euGenes: HUgn56953
ECgene: NT5M Kegg: 56953 H-InvDB: NT5M

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NT5M Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NT5M gene:
Search GeneIP for patents involving NT5M

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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