NT5C3A (5-nucleotidase, cytosolic IIIA)

2009-06-01 Affiliation

Identity

HGNC

NT5C3A

LOCATION

7p14.3

LOCUSID

51251

ALIAS

NT5C3,P5N-1,P5N-1,PN-I,POMP,PSN1,UMPH,UMPH1,cN-III,hUMP1,p36

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000122643	ENST00000381626	Q9H0P0
ENSG00000122643	ENST00000381626	A0A090N7U2
ENSG00000122643	ENST00000405342	Q9H0P0
ENSG00000122643	ENST00000405342	A0A024RA81
ENSG00000122643	ENST00000409467	Q9H0P0
ENSG00000122643	ENST00000409467	A0A090N7U2
ENSG00000122643	ENST00000409787	B9A035
ENSG00000122643	ENST00000449201	C9K084
ENSG00000122643	ENST00000456458	F8WDR0
ENSG00000122643	ENST00000610140	X6RM59
ENSG00000122643	ENST00000643244	Q9H0P0
ENSG00000122643	ENST00000643244	A0A024RA81

Expression (GTEx)

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

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Pyrimidine metabolism	KEGG	ko00240
Nicotinate and nicotinamide metabolism	KEGG	ko00760
Purine metabolism	KEGG	hsa00230
Pyrimidine metabolism	KEGG	hsa00240
Nicotinate and nicotinamide metabolism	KEGG	hsa00760
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Pyrimidine metabolism	REACTOME	R-HSA-73848
Pyrimidine catabolism	REACTOME	R-HSA-73621

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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
17349762	2007	Overexpression of hUMP1/POMP proteasome accessory protein enhances proteasome-mediated antioxidant defence.	21
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
26288249	2015	Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.	17
19623099	2009	Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.	9
23223233	2013	Identification of Drosophila and human 7-methyl GMP-specific nucleotidases.	5
18775979	2008	Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53.	4
29463777	2018	The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling.	4
25000516	2014	NT5C3 polymorphisms and outcome of first induction chemotherapy in acute myeloid leukemia.	3
18499901	2008	Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.	1
27381654	2016	Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients.	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