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Aliases for NT5M Gene

Aliases for NT5M Gene

  • 5',3'-Nucleotidase, Mitochondrial 2
  • 5,3-Nucleotidase, Mitochondrial 2 3 4
  • DNT2 3 4 6
  • 5 Nucleotidase, Mitochondrial 2 3
  • Deoxy-5-Nucleotidase 2 3 4
  • DNT-2 3 4
  • 5(3)-Deoxyribonucleotidase, Mitochondrial 3
  • Mitochondrial 5 Nucleotidase 3
  • 5(3)-Deoxyribonucleotidase 3
  • EC 3.1.3.- 4
  • EC 3.1.3 64
  • MdN 3

External Ids for NT5M Gene

Summaries for NT5M Gene

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. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleotide binding and nucleotidase activity. An important paralog of this gene is NT5C.

UniProtKB/Swiss-Prot for NT5M Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5M Gene

Genomics for NT5M Gene

Genomic Location for NT5M Gene

Start:
17,303,335 bp from pter
End:
17,347,663 bp from pter
Size:
44,329 bases
Orientation:
Plus strand

Genomic View for NT5M Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NT5M Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5M Gene

Regulatory Elements for NT5M Gene

Proteins for NT5M Gene

  • Protein details for NT5M Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPB1-NT5M_HUMAN
    Recommended name:
    5(3)-deoxyribonucleotidase, mitochondrial
    Protein Accession:
    Q9NPB1
    Secondary Accessions:

    Protein attributes for NT5M Gene

    Size:
    228 amino acids
    Molecular mass:
    25862 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for NT5M Gene

neXtProt entry for NT5M Gene

Proteomics data for NT5M Gene at MOPED

Selected DME Specific Peptides for NT5M Gene

Post-translational modifications for NT5M Gene

No Post-translational modifications

Other Protein References for NT5M Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for NT5M Gene

Gene Families for NT5M Gene

Protein Domains for NT5M Gene

UniProtKB/Swiss-Prot:

NT5M_HUMAN
Family:
  • Belongs to the 5(3)-deoxyribonucleotidase family.:
    • Q9NPB1
genes like me logo Genes that share domains with NT5M: view

Function for NT5M Gene

Molecular function for NT5M Gene

UniProtKB/Swiss-Prot 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) for NT5M Gene

Gene Ontology (GO) - Molecular Function for NT5M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0008252 nucleotidase activity TAS 10899995
GO:0008253 5-nucleotidase activity EXP --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NT5M: view

miRNA for NT5M Gene

miRTarBase miRNAs that target NT5M

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NT5M Gene

Localization for NT5M Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5M Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NT5M Gene COMPARTMENTS Subcellular localization image for NT5M gene
Compartment Confidence
mitochondrion 5
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for NT5M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 10899995
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NT5M: view

Pathways for NT5M Gene

genes like me logo Genes that share pathways with NT5M: view

Pathways by source for NT5M Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for NT5M Gene

Interacting Proteins for NT5M Gene

Gene Ontology (GO) - Biological Process for NT5M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006260 DNA replication TAS 10899995
GO:0009223 pyrimidine deoxyribonucleotide catabolic process TAS 10899995
GO:0009264 deoxyribonucleotide catabolic process --
GO:0016311 dephosphorylation TAS 10899995
genes like me logo Genes that share ontologies with NT5M: view

Compounds for NT5M Gene

(29) HMDB Compounds for NT5M Gene

Compound Synonyms Cas Number PubMed IDs
2'-Deoxyguanosine 5'-monophosphate
  • 2'-Deoxy-5'-GMP
902-04-5
5-Thymidylic acid
  • 2'-Deoxythymidine 5'-monophosphate
365-07-1
Adenosine
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
58-61-7
Adenosine monophosphate
  • 5'-AMP
61-19-8
Cytidine
  • 1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine
65-46-3

(2) Drugbank Compounds for NT5M Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
cyclic 3',5'-thymidine monophosphate
  • 2',3'-dehydro-2',3'-deoxy-thymidine 5'-monophosphate
target
Dpb-T
target

(1) Novoseek inferred chemical compound relationships for NT5M Gene

Compound -log(P) Hits PubMed IDs
thymidine 46 5
genes like me logo Genes that share compounds with NT5M: view

Transcripts for NT5M Gene

Unigene Clusters for NT5M Gene

5,3-nucleotidase, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NT5M Gene

No ASD Table

Relevant External Links for NT5M Gene

GeneLoc Exon Structure for
NT5M
ECgene alternative splicing isoforms for
NT5M

Expression for NT5M Gene

mRNA expression in normal human tissues for NT5M Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for NT5M Gene Hs.513977

mRNA Expression by UniProt/SwissProt for NT5M Gene

Q9NPB1-NT5M_HUMAN
Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at very low levels in kidney and pancreas.
genes like me logo Genes that share expressions with NT5M: view

Orthologs for NT5M Gene

This gene was present in the common ancestor of chordates.

Orthologs for NT5M Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NT5M 36
  • 99.56 (n)
  • 99.12 (a)
NT5M 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NT5M 36
  • 88.69 (n)
  • 87.95 (a)
NT5M 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NT5M 36
  • 90.01 (n)
  • 85.46 (a)
NT5M 37
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5m 36
  • 90.83 (n)
  • 93.65 (a)
Nt5m 16
Nt5m 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NT5M 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NT5M 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nt5m 36
  • 85.25 (n)
  • 86.78 (a)
chicken
(Gallus gallus)
Aves NT5M 36
  • 80.95 (n)
  • 86.24 (a)
NT5M 37
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5M 37
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nt5m 36
  • 74.96 (n)
  • 80.95 (a)
Species with no ortholog for NT5M:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NT5M Gene

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

Paralogs for NT5M Gene

Paralogs for NT5M Gene

Selected SIMAP similar genes for NT5M Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NT5M: view

Variants for NT5M Gene

Sequence variations from dbSNP and Humsavar for NT5M Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs171394 -- 17,346,573(+) TGACC(C/T)GCAGT intron-variant
rs242242 -- 17,344,100(+) GCCCC(C/G)GTCTG intron-variant
rs242243 -- 17,346,292(+) GTGGC(A/G)TCACC intron-variant
rs242244 -- 17,348,161(+) GGTTT(G/T)GGGAC downstream-variant-500B
rs758742 -- 17,322,515(+) AGTCT(A/C)ACCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NT5M Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv833380 CNV Loss 17160897
nsv833382 CNV Loss 17160897
nsv469777 CNV Complex 16826518
esv33859 CNV Loss 17666407
esv2715716 CNV Deletion 23290073
esv2715717 CNV Deletion 23290073
esv2715719 CNV Deletion 23290073
esv5295 CNV Deletion 18987735
esv2673352 CNV Deletion 23128226
esv1198553 CNV Deletion 17803354
esv2813 CNV Deletion 18987735
esv6568 CNV Loss 19470904
esv2715720 CNV Deletion 23290073
nsv112007 CNV Loss 16902084
esv26411 CNV Loss 19812545
nsv9500 CNV Loss 18304495
esv2659771 CNV Deletion 23128226

Relevant External Links for NT5M Gene

HapMap Linkage Disequilibrium report
NT5M

Disorders for NT5M Gene

(1) MalaCards Diseases for NT5M Gene

Search for NT5M Gene in MalaCards »

(1) University of Copenhagen DISEASES for NT5M Gene

Relevant External Links for NT5M

Genetic Association Database (GAD)
NT5M
Human Genome Epidemiology (HuGE) Navigator
NT5M
genes like me logo Genes that share disorders with NT5M: view

No data available for UniProtKB/Swiss-Prot for NT5M Gene

Publications for NT5M Gene

  1. Crystal structure of a human mitochondrial deoxyribonucleotidase. (PMID: 12352955) Rinaldo-Matthis A. … Nordlund P. (Nat. Struct. Biol. 2002) 3 4 23
  2. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. (PMID: 10899995) Rampazzo C. … Bianchi V. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4
  3. Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspects. (PMID: 12124385) Gallinaro L. … Bianchi V. (J. Biol. Chem. 2002) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49

Products for NT5M Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NT5M
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for NT5M
  • Block miRNA regulation of NT5M using miScript Target Protectors

Sources for NT5M Gene

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