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Aliases for NT5C Gene

Aliases for NT5C Gene

  • 5', 3'-Nucleotidase, Cytosolic 2
  • 5, 3-Nucleotidase, Cytosolic 2 3 5
  • 5 Nucleotidase, Deoxy (Pyrimidine), Cytosolic Type C 2 3
  • 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
  • 5(3)-Deoxyribonucleotidase, Cytosolic Type 3
  • Uridine 5-Monophosphate Phosphohydrolase 2 3
  • Epididymis Luminal Protein 74 3
  • EC 3.1.3.- 4
  • PN-II 3
  • HEL74 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 Norwegian Scabies. Among its related pathways are Pyrimidine metabolism (KEGG) and 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 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 , fRNAdb sequence ontologies and piRNA Summary for NT5C Gene

Genomics for NT5C Gene

GeneHancer (GH) Regulatory Elements for NT5C Gene

Promoters and enhancers for NT5C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I075130 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 562.9 +0.4 350 2.6 HDGF CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF213 E2F8 NT5C ENSG00000279035 NUP85 MRPL58 ARMC7
GH17I074511 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 125.2 +618.2 618191 3.3 YBX1 FEZF1 ZNF213 ZNF416 ZNF548 SP3 ZFP41 MEF2D ZNF610 GLIS1 NUP85 NAT9 NT5C GGA3 RN7SL573P HID1-AS1 CD300E SLC16A5 MIF4GD CDR2L
GH17I075085 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 69.7 +40.3 40299 11.9 CLOCK MLX ZFP64 YBX1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 SLC16A5 ENSG00000206713 GC17M075090 NUP85 UNK NT5C ENSG00000266980 ENSG00000267342 GGA3 NAT9
GH17I075776 Promoter/Enhancer 2.7 UCNEbase EPDnew Ensembl ENCODE dbSUPER 65.7 -646.7 -646731 4.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 H3F3B GC17M075778 GC17P075777 UNK NT5C SRSF2 NUP85 ENSG00000266980 GGA3 METTL23
GH17I074461 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 59.6 +666.0 666026 9.3 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 YBX1 IRF4 ZNF766 ZNF207 ZNF143 CD300A NUP85 NAT9 NT5C GGA3 MGC16275 GPR142 CD300LB ARMC7 BTBD17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NT5C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NT5C gene promoter:

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)

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

No Post-translational modifications

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:

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 EXP,IEA 2157703
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

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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 2
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:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome IDA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 638
Adenosine Approved, Investigational Pharma Agonist 551
Inosine Approved, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
deoxyadenosine
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-delta-Ribofuranose
  • 2'-Deoxyadenosine
  • 2-Deoxyadenosine
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
deoxyguanosine
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
961-07-9
Nicotinamide riboside
  • 1-(beta-D-Ribofuranosyl)nicotinamide
  • 1-b-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-delta-Ribosyl-3-Pyridinecarboxamide
  • 3-(Aminocarbonyl)-1-beta-D-ribofuranosyl-Pyridinium
1341-23-7
genes like me logo Genes that share compounds with NT5C: view

Transcripts for NT5C Gene

Unigene Clusters for NT5C Gene

5, 3-nucleotidase, cytosolic:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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(2.6)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Skin(2)
genes like me logo Genes that share expression patterns with NT5C: view

Primer Products

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 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia NT5C 33 34
  • 89.38 (n)
cow
(Bos Taurus)
Mammalia NT5C 33 34
  • 86.05 (n)
mouse
(Mus musculus)
Mammalia Nt5c 33 16 34
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Nt5c 33
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia NT5C 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NT5C 34
  • 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)

Paralogs for NT5C Gene

Paralogs for NT5C Gene

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

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

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

Disorders for NT5C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
coronin-1a deficiency
  • coronin 1a
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 22 58
  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 22 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for NT5C Gene

Sources for NT5C Gene

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