This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively ... See more...

Aliases for NT5C Gene

Aliases for NT5C Gene

  • 5', 3'-Nucleotidase, Cytosolic 2 3 5
  • 5' Nucleotidase, Deoxy (Pyrimidine), Cytosolic Type C 2 3
  • 5'(3')-Deoxyribonucleotidase, Cytosolic Type 3 4
  • Uridine 5-Prime Monophosphate Hydrolase 2 2 3
  • Cytosolic 5',3'-Pyrimidine Nucleotidase 3 4
  • Deoxy-5'-Nucleotidase 1 3 4
  • UMPH2 3 4
  • DNT-1 3 4
  • DNT1 3 4
  • Uridine 5'-Monophosphate Phosphohydrolase 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Luminal Protein 74 3
  • EC 3.1.3.- 4
  • HEL74 3
  • PN-II 3
  • P5N2 3
  • PN-I 3
  • DNT 3
  • CdN 3

External Ids for NT5C Gene

Previous HGNC Symbols for NT5C Gene

  • UMPH2

Previous GeneCards Identifiers for NT5C Gene

  • GC17M073123
  • GC17M076185
  • GC17M073590
  • GC17M073723
  • GC17M070637
  • GC17M068536

Summaries for NT5C Gene

Entrez Gene Summary for NT5C Gene

  • This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for NT5C Gene

NT5C (5', 3'-Nucleotidase, Cytosolic) is a Protein Coding gene. Diseases associated with NT5C include Coronin-1A Deficiency and Thiopurines, Poor Metabolism Of, 1. Among its related pathways are Metabolism of nucleotides and NAD metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and nucleotidase activity. An important paralog of this gene is NT5M.

UniProtKB/Swiss-Prot Summary for NT5C Gene

  • Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP.

Gene Wiki entry for NT5C Gene

Additional gene information for NT5C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NT5C Gene

Genomics for NT5C Gene

GeneHancer (GH) Regulatory Elements for NT5C Gene

Promoters and enhancers for NT5C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NT5C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NT5C gene promoter:
  • Ik-2
  • LCR-F1
  • p53
  • Pax-2
  • Pax-2a
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for NT5C Gene

Genomic Locations for NT5C Gene
chr17:75,130,225-75,131,795
(GRCh38/hg38)
Size:
1,571 bases
Orientation:
Minus strand
chr17:73,126,320-73,127,890
(GRCh37/hg19)
Size:
1,571 bases
Orientation:
Minus strand

Genomic View for NT5C Gene

Genes around NT5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NT5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NT5C Gene

Proteins for NT5C Gene

  • Protein details for NT5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCD5-NT5C_HUMAN
    Recommended name:
    5'(3')-deoxyribonucleotidase, cytosolic type
    Protein Accession:
    Q8TCD5
    Secondary Accessions:
    • Q96HS6
    • Q9NP82

    Protein attributes for NT5C Gene

    Size:
    201 amino acids
    Molecular mass:
    23383 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for NT5C Gene

    Alternative splice isoforms for NT5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NT5C Gene

Post-translational modifications for NT5C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NT5C Gene

Domains & Families for NT5C Gene

Gene Families for NT5C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NT5C Gene

Suggested Antigen Peptide Sequences for NT5C Gene

GenScript: Design optimal peptide antigens:
  • Deoxy-5'-nucleotidase 1 (NT5C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCD5

UniProtKB/Swiss-Prot:

NT5C_HUMAN :
  • Belongs to the 5'(3')-deoxyribonucleotidase family.
Family:
  • Belongs to the 5'(3')-deoxyribonucleotidase family.
genes like me logo Genes that share domains with NT5C: view

Function for NT5C Gene

Molecular function for NT5C Gene

UniProtKB/Swiss-Prot Function:
Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP.

Enzyme Numbers (IUBMB) for NT5C Gene

Phenotypes From GWAS Catalog for NT5C Gene

Gene Ontology (GO) - Molecular Function for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008252 nucleotidase activity IDA 10681516
GO:0008253 5'-nucleotidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
GO:0019103 pyrimidine nucleotide binding IDA 10681516
genes like me logo Genes that share ontologies with NT5C: view
genes like me logo Genes that share phenotypes with NT5C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NT5C Gene

Localization for NT5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for NT5C Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NT5C gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10681516
GO:0005737 cytoplasm IDA,IEA 10681516
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with NT5C: view

Pathways & Interactions for NT5C Gene

genes like me logo Genes that share pathways with NT5C: view

Gene Ontology (GO) - Biological Process for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006195 purine nucleotide catabolic process TAS --
GO:0009117 nucleotide metabolic process IEA --
GO:0009223 pyrimidine deoxyribonucleotide catabolic process IDA 10681516
GO:0009264 deoxyribonucleotide catabolic process IEA --
GO:0016311 dephosphorylation IDA,IEA 10681516
genes like me logo Genes that share ontologies with NT5C: view

No data available for SIGNOR curated interactions for NT5C Gene

Drugs & Compounds for NT5C Gene

(22) Drugs for NT5C Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Experimental, Investigational Pharma 1294
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 682
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 627
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0

(13) Additional Compounds for NT5C Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
deoxyadenosine
  • (2R,3S,5R)-5-(6-amino-9H-Purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-amino-PURIN-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
deoxyguanosine
  • 2-amino-9-(2-Deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2-amino-9-(2-Deoxy-9-b-D-ribofuranosyl)-9H-purin-6-ol
961-07-9
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphonato-beta-D-ribofuranosyl)pyridinium
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, inner salt
  • beta-Nicotinamide D-ribonucleotide
  • beta-Nicotinamide mononucleotide
  • beta-Nicotinamide ribonucleotide
1094-61-7
genes like me logo Genes that share compounds with NT5C: view

Transcripts for NT5C Gene

mRNA/cDNA for NT5C Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f · 5g
SP1: - - - - -
SP2: - - - -
SP3:
SP4: -
SP5: -
SP6:
SP7: - -

Relevant External Links for NT5C Gene

GeneLoc Exon Structure for
NT5C
ECgene alternative splicing isoforms for
NT5C

Expression for NT5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NT5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NT5C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NT5C Gene



Protein tissue co-expression partners for NT5C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NT5C Gene:

NT5C

SOURCE GeneReport for Unigene cluster for NT5C Gene:

Hs.67201

mRNA Expression by UniProt/SwissProt for NT5C Gene:

Q8TCD5-NT5C_HUMAN
Tissue specificity: Detected in skeletal muscle, heart and pancreas.

Evidence on tissue expression from TISSUES for NT5C Gene

  • Nervous system(4.4)
  • Lung(4.3)
  • Eye(4.2)
  • Blood(2.7)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Skin(2)
genes like me logo Genes that share expression patterns with NT5C: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C Gene

Orthologs for NT5C Gene

This gene was present in the common ancestor of chordates.

Orthologs for NT5C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NT5C 33 32
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NT5C 33 32
  • 89.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NT5C 33 32
  • 86.05 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c 17 33 32
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Nt5c 32
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia NT5C 33
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C 33
  • 66 (a)
OneToOne
Species where no ortholog for NT5C was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NT5C Gene

ENSEMBL:
Gene Tree for NT5C (if available)
TreeFam:
Gene Tree for NT5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NT5C: view image

Paralogs for NT5C Gene

Paralogs for NT5C Gene

(1) SIMAP similar genes for NT5C Gene using alignment to 6 proteins:

  • NT5C_HUMAN
  • J3KRC4_HUMAN
  • J3KSF0_HUMAN
  • J3KSX6_HUMAN
  • J3KSY6_HUMAN
  • J3QQX8_HUMAN

Pseudogenes.org Pseudogenes for NT5C Gene

genes like me logo Genes that share paralogs with NT5C: view

Variants for NT5C Gene

Sequence variations from dbSNP and Humsavar for NT5C Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000475075 -- 75,132,815(-) A/C upstream_transcript_variant
rs1001373677 -- 75,133,522(-) C/T upstream_transcript_variant
rs1001827959 -- 75,133,267(-) A/G upstream_transcript_variant
rs1001886544 -- 75,129,900(-) G/A downstream_transcript_variant
rs1002996357 -- 75,131,424(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NT5C Gene

Variant ID Type Subtype PubMed ID
nsv470602 CNV loss 18288195

Variation tolerance for NT5C Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NT5C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C Gene

Disorders for NT5C Gene

MalaCards: The human disease database

(3) MalaCards diseases for NT5C Gene - From: DISEASES

Disorder Aliases PubMed IDs
coronin-1a deficiency
thiopurines, poor metabolism of, 1
  • thpm1
norwegian scabies
  • crusted scabies
- elite association - COSMIC cancer census association via MalaCards
Search NT5C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NT5C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NT5C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NT5C Gene

Publications for NT5C Gene

  1. Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs. (PMID: 12234672) Rampazzo C … Bianchi V (Gene 2002) 3 4 23 56
  2. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. (PMID: 10899995) Rampazzo C … Bianchi V (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 23 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Crystal structures of human and murine deoxyribonucleotidases: insights into recognition of substrates and nucleotide analogues. (PMID: 17985935) Walldén K … Nordlund P (Biochemistry 2007) 4 23 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for NT5C Gene

Sources for NT5C Gene