Identity
HGNC
LOCATION
7p14.3
LOCUSID
ALIAS
NT5C3,P5N-1,P5N-1,PN-I,POMP,PSN1,UMPH,UMPH1,cN-III,hUMP1,p36
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51251
MIM: 606224
HGNC: 17820
Ensembl: ENSG00000122643
Variants:
dbSNP: 51251
ClinVar: 51251
TCGA: ENSG00000122643
COSMIC: NT5C3A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444760 | Leukemia, Myeloid, Acute | Disease | ClinicalAnnotation | associated | PD | 25000516 | |
| PA445062 | Neoplasms | Disease | ClinicalAnnotation | associated | PK | 22838949 | |
| PA449177 | cytarabine | Chemical | ClinicalAnnotation | associated | PD | 25000516 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PK | 22838949 | |
| PA449961 | idarubicin | Chemical | ClinicalAnnotation | associated | PD | 25000516 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34547876 | 2021 | [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. | 0 |
| 34547876 | 2021 | [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. | 0 |
| 30951028 | 2019 | A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. | 2 |
| 30951028 | 2019 | A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. | 2 |
| 29463777 | 2018 | The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling. | 9 |
| 29463777 | 2018 | The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling. | 9 |
| 27381654 | 2016 | Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients. | 1 |
| 27381654 | 2016 | Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients. | 1 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 25000516 | 2014 | NT5C3 polymorphisms and outcome of first induction chemotherapy in acute myeloid leukemia. | 5 |
| 25153905 | 2014 | Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression. | 1 |
| 25000516 | 2014 | NT5C3 polymorphisms and outcome of first induction chemotherapy in acute myeloid leukemia. | 5 |
| 25153905 | 2014 | Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression. | 1 |
| 23139015 | 2013 | New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia. | 1 |
Citation
Dessen P
NT5C3A (5-nucleotidase, cytosolic IIIA)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50937/nt5c3a
