NT5C (5, 3-nucleotidase, cytosolic)

2014-11-01  

Identity

HGNC
NT5C
LOCATION
17q25.1
LOCUSID
30833
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449748gemcitabineChemicalPathwayassociated25162786
PA450163lamivudineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
127145052003Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.2
127145052003Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.2
124182222002Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases.0
124182222002Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases.0

Citation

Dessen P

NT5C (5, 3-nucleotidase, cytosolic)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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