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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
  • 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 Metabolism and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5C Gene

Genomics for NT5C Gene

Regulatory Elements for NT5C Gene

Promoters for NT5C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NT5C on UCSC Golden Path with GeneCards custom track

Genomic Location for NT5C Gene

Chromosome:
17
Start:
75,130,225 bp from pter
End:
75,131,795 bp from pter
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

Proteomics data for NT5C Gene at MOPED

Post-translational modifications for NT5C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for NT5C Gene

Domains & Families for NT5C Gene

Gene Families for NT5C Gene

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

Gene Ontology (GO) - Molecular Function for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008253 5-nucleotidase activity EXP,IEA 2157703
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

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
Jensen Localization Image for NT5C Gene COMPARTMENTS Subcellular localization image for NT5C gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 3
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10681516
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

Interacting Proteins for NT5C Gene

Gene Ontology (GO) - Biological Process for NT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0009223 pyrimidine deoxyribonucleotide catabolic process IDA 10681516
GO:0009264 deoxyribonucleotide catabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0055086 nucleobase-containing small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 594
Adenosine Approved, Investigational Pharma Agonist 363
Adenosine monophosphate Approved Nutra 0
Cytidine Experimental Pharma 0
deoxycytidine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
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
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:

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 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, MOPED, and MaxQB for NT5C Gene



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.
genes like me logo Genes that share expression patterns with NT5C: view

Protein tissue co-expression partners for NT5C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.17 (n)
  • 99 (a)
NT5C 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NT5C 36
  • 76 (a)
OneToOne
NT5C 35
  • 86.05 (n)
  • 83.67 (a)
dog
(Canis familiaris)
Mammalia NT5C 35
  • 89.38 (n)
  • 89.17 (a)
NT5C 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nt5c 16
Nt5c 36
  • 84 (a)
OneToOne
Nt5c 35
  • 85.96 (n)
  • 84.77 (a)
oppossum
(Monodelphis domestica)
Mammalia NT5C 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nt5c 35
  • 85.79 (n)
  • 83.76 (a)
lizard
(Anolis carolinensis)
Reptilia NT5C 36
  • 66 (a)
OneToOne
Species with no ortholog for NT5C:
  • 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 Sequence Context AA Info Type
rs11541956 - 75,131,253(-) AGCCC(C/T)GGGCT nc-transcript-variant, reference, missense
rs1048779 -- 75,130,843(-) ACCTG(A/G)GGCCC intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs4788867 -- 75,131,588(+) CGGCG(C/T)TGCTC nc-transcript-variant, reference, synonymous-codon
rs4788868 -- 75,131,876(+) AGGCC(A/T)TCCTA upstream-variant-2KB
rs4789143 -- 75,132,055(+) TCTGA(A/G)ATACT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv908756 CNV Loss 21882294
nsv470602 CNV Loss 18288195
nsv908757 CNV Loss 21882294
nsv908758 CNV Loss 21882294

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)

Relevant External Links for NT5C Gene

HapMap Linkage Disequilibrium report
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

Relevant External Links for NT5C

Genetic Association Database (GAD)
NT5C
Human Genome Epidemiology (HuGE) Navigator
NT5C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NT5C
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 67
  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 23
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for NT5C Gene

Sources for NT5C Gene

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