Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NT5C (5', 3'-nucleotidase, cytosolic)

Identity

Alias_namesUMPH2
5' nucleotidase, deoxy (pyrimidine), cytosolic type C
uridine 5-prime monophosphate hydrolase 2
Alias_symbol (synonym)DNT1
DNT-1
PN-I
cdN
dNT-1
Other aliasDNT
HEL74
P5N2
PN-II
HGNC (Hugo) NT5C
LocusID (NCBI) 30833
Atlas_Id 70995
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 75130225 and ends at 75131795 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)NT5C   17144
Cards
Entrez_Gene (NCBI)NT5C  30833  5', 3'-nucleotidase, cytosolic
AliasesDNT; DNT1; HEL74; P5N2; 
PN-I; PN-II; UMPH2; cdN; dNT-1
GeneCards (Weizmann)NT5C
Ensembl hg19 (Hinxton)ENSG00000125458 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125458 [Gene_View]  ENSG00000125458 [Sequence]  chr17:75130225-75131795 [Contig_View]  NT5C [Vega]
ICGC DataPortalENSG00000125458
TCGA cBioPortalNT5C
AceView (NCBI)NT5C
Genatlas (Paris)NT5C
WikiGenes30833
SOURCE (Princeton)NT5C
Genetics Home Reference (NIH)NT5C
Genomic and cartography
GoldenPath hg38 (UCSC)NT5C  -     chr17:75130225-75131795 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NT5C  -     17q25.1   [Description]    (hg19-Feb_2009)
GoldenPathNT5C - 17q25.1 [CytoView hg19]  NT5C - 17q25.1 [CytoView hg38]
ImmunoBaseENSG00000125458
Mapping of homologs : NCBINT5C [Mapview hg19]  NT5C [Mapview hg38]
OMIM191720   
Gene and transcription
Genbank (Entrez)AF154829 AK000419 BC002516 BC008183 BC017454
RefSeq transcript (Entrez)NM_001252377 NM_014595
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NT5C
Cluster EST : UnigeneHs.67201 [ NCBI ]
CGAP (NCI)Hs.67201
Alternative Splicing GalleryENSG00000125458
Gene ExpressionNT5C [ NCBI-GEO ]   NT5C [ EBI - ARRAY_EXPRESS ]   NT5C [ SEEK ]   NT5C [ MEM ]
Gene Expression Viewer (FireBrowse)NT5C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30833
GTEX Portal (Tissue expression)NT5C
Human Protein AtlasENSG00000125458-NT5C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCD5
Splice isoforms : SwissVarQ8TCD5
Catalytic activity : Enzyme3.1.3.5 [ Enzyme-Expasy ]   3.1.3.53.1.3.5 [ IntEnz-EBI ]   3.1.3.5 [ BRENDA ]   3.1.3.5 [ KEGG ]   
PhosPhoSitePlusQ8TCD5
Domains : Interpro (EBI)5'(3')-deoxyribonucleotidase    HAD-like_sf    HAD_sf   
Domain families : Pfam (Sanger)NT5C (PF06941)   
Domain families : Pfam (NCBI)pfam06941   
Conserved Domain (NCBI)NT5C
DMDM Disease mutations30833
Blocks (Seattle)NT5C
PDB (RSDB)2I7D    4L57    4YIH   
PDB Europe2I7D    4L57    4YIH   
PDB (PDBSum)2I7D    4L57    4YIH   
PDB (IMB)2I7D    4L57    4YIH   
Structural Biology KnowledgeBase2I7D    4L57    4YIH   
SCOP (Structural Classification of Proteins)2I7D    4L57    4YIH   
CATH (Classification of proteins structures)2I7D    4L57    4YIH   
SuperfamilyQ8TCD5
Human Protein Atlas [tissue]ENSG00000125458-NT5C [tissue]
Peptide AtlasQ8TCD5
HPRD11833
IPIIPI00005573   IPI00386083   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCD5
IntAct (EBI)Q8TCD5
FunCoupENSG00000125458
BioGRIDNT5C
STRING (EMBL)NT5C
ZODIACNT5C
Ontologies - Pathways
QuickGOQ8TCD5
Ontology : AmiGOnucleus  cytoplasm  cytosol  cytosol  purine nucleotide catabolic process  nucleotidase activity  5'-nucleotidase activity  pyrimidine deoxyribonucleotide catabolic process  dephosphorylation  pyrimidine nucleotide binding  pyrimidine nucleoside catabolic process  metal ion binding  extracellular exosome  
Ontology : EGO-EBInucleus  cytoplasm  cytosol  cytosol  purine nucleotide catabolic process  nucleotidase activity  5'-nucleotidase activity  pyrimidine deoxyribonucleotide catabolic process  dephosphorylation  pyrimidine nucleotide binding  pyrimidine nucleoside catabolic process  metal ion binding  extracellular exosome  
Pathways : KEGGNicotinate and nicotinamide metabolism    Pyrimidine metabolism    Purine metabolism   
NDEx NetworkNT5C
Atlas of Cancer Signalling NetworkNT5C
Wikipedia pathwaysNT5C
Orthology - Evolution
OrthoDB30833
GeneTree (enSembl)ENSG00000125458
Phylogenetic Trees/Animal Genes : TreeFamNT5C
HOGENOMQ8TCD5
Homologs : HomoloGeneNT5C
Homology/Alignments : Family Browser (UCSC)NT5C
Gene fusions - Rearrangements
Fusion : QuiverNT5C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNT5C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NT5C
dbVarNT5C
ClinVarNT5C
1000_GenomesNT5C 
Exome Variant ServerNT5C
ExAC (Exome Aggregation Consortium)ENSG00000125458
GNOMAD BrowserENSG00000125458
Varsome BrowserNT5C
Genetic variants : HAPMAP30833
Genomic Variants (DGV)NT5C [DGVbeta]
DECIPHERNT5C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNT5C 
Mutations
ICGC Data PortalNT5C 
TCGA Data PortalNT5C 
Broad Tumor PortalNT5C
OASIS PortalNT5C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNT5C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNT5C
Mutations and Diseases : HGMDNT5C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NT5C
DgiDB (Drug Gene Interaction Database)NT5C
DoCM (Curated mutations)NT5C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NT5C (select a term)
intoGenNT5C
Cancer3DNT5C(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191720   
Orphanet
DisGeNETNT5C
MedgenNT5C
Genetic Testing Registry NT5C
NextProtQ8TCD5 [Medical]
TSGene30833
GENETestsNT5C
Target ValidationNT5C
Huge Navigator NT5C [HugePedia]
snp3D : Map Gene to Disease30833
BioCentury BCIQNT5C
ClinGenNT5C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30833
Chemical/Pharm GKB GenePA31798
Clinical trialNT5C
Miscellaneous
canSAR (ICR)NT5C (select the gene name)
DataMed IndexNT5C
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNT5C
EVEXNT5C
GoPubMedNT5C
iHOPNT5C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:58:14 CEST 2019
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