NT5C (5, 3-nucleotidase, cytosolic)

2014-11-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
DNT,DNT1,HEL74,P5N2,PN-I,PN-II,UMPH2,cdN,dNT-1

Other Information

Locus ID:

NCBI: 30833
MIM: 191720
HGNC: 17144
Ensembl: ENSG00000125458

Variants:

dbSNP: 30833
ClinVar: 30833
TCGA: ENSG00000125458
COSMIC: NT5C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125458ENST00000245552Q8TCD5
ENSG00000125458ENST00000245552V9HWF3
ENSG00000125458ENST00000578337J3KSF0
ENSG00000125458ENST00000578407J3KSX6
ENSG00000125458ENST00000580423J3QQX8
ENSG00000125458ENST00000580758Q8TCD5
ENSG00000125458ENST00000582160J3KSY6
ENSG00000125458ENST00000582170J3KRC4
ENSG00000125458ENST00000582744J3KSF0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Nicotinate and nicotinamide metabolismKEGGko00760
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine catabolismREACTOMER-HSA-74259
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine catabolismREACTOMER-HSA-73621

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449748gemcitabineChemicalPathwayassociated25162786
PA450163lamivudineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
124182222002Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases.0
127145052003Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.0

Citation

Dessen P

NT5C (5, 3-nucleotidase, cytosolic)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70995/nt5c