NT5M (5,3-nucleotidase, mitochondrial)

2014-11-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
dNT-2,dNT2,mdN

Other Information

Locus ID:

NCBI: 56953
MIM: 605292
HGNC: 15769
Ensembl: ENSG00000205309

Variants:

dbSNP: 56953
ClinVar: 56953
TCGA: ENSG00000205309
COSMIC: NT5M

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205309ENST00000389022Q9NPB1
ENSG00000205309ENST00000470418J3QLR5
ENSG00000205309ENST00000478373J3QRN4
ENSG00000205309ENST00000483704K7EPW8
ENSG00000205309ENST00000616989Q2I378

Expression (GTEx)

0
5
10
15
20
25
30

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
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine catabolismREACTOMER-HSA-73621

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123529552002Crystal structure of a human mitochondrial deoxyribonucleotidase.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
160048792005Structural basis for substrate specificity of the human mitochondrial deoxyribonucleotidase.5
121243852002Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspects.3
245062012015Kinetic and structural characterization of an alternatively spliced variant of human mitochondrial 5'(3')-deoxyribonucleotidase.0

Citation

Dessen P

NT5M (5,3-nucleotidase, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71003/nt5m