5'(3')-deoxyribonucleotidase mitochondrial, 5',3'-nucleotidase, mitochondrial, Deoxy-5'-nucleotidase 2, dNT-2, NT5M, DNT2.
NT5M Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 218 amino acids (32-228 a.a.) and having a molecular mass of 25.1kDa.
NT5M is fused to a 21 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
5'(3')-deoxyribonucleotidase mitochondrial, 5',3'-nucleotidase, mitochondrial, Deoxy-5'-nucleotidase 2, dNT-2, NT5M, DNT2.
MGSSHHHHHH SSGLVPRGSH MGGRALRVLV DMDGVLADFE GGFLRKFRAR FPDQPFIALE DRRGFWVSEQ YGRLRPGLSE KAISIWESKN FFFELEPLPG AVEAVKEMAS LQNTDVFICT SPIKMFKYCP YEKYAWVEKY FGPDFLEQIV LTRDKTVVSA DLLIDDRPDI TGAEPTPSWE HVLFTACHNQ HLQLQPPRRR LHSWADDWKA ILDSKRPC.
The NT5M gene is located on chromosome 17 within the Smith-Magenis syndrome region . The gene encodes a 25.9-kDa polypeptide, which undergoes processing to remove the first 32 amino acids containing the mitochondrial targeting sequence . The mature protein consists of 196 amino acids and is likely a dimer formed by the interaction of alpha and beta loops between the cores of two monomers . The large domain of each monomer forms an alpha/beta Rossmann fold, while the small domain forms a truncated four-helix bundle . The active site, located in a cleft between the two domains, binds a magnesium ion coordinated by three exogenous ligands, a phosphate ion, and two water molecules in an octahedral shape .
5’,3’-Nucleotidase, mitochondrial, functions primarily in the dephosphorylation of nucleoside triphosphates, specifically the 5’- and 2’ (3’)-phosphates of uracil and thymine deoxyribonucleotides (dUMPs and dTMPs) . This activity is essential for regulating the size of pyrimidine deoxyribonucleotide pools within mitochondria, in conjunction with mitochondrial thymidine kinase, as part of the thymidine (dTTP)/dTMP substrate cycle . By maintaining balanced nucleotide pools, the enzyme ensures proper mitochondrial DNA replication and repair.
Mutations or dysregulation of the NT5M gene can have significant clinical implications. The gene’s location within the Smith-Magenis syndrome region suggests a potential link to this genetic disorder . Additionally, the enzyme’s role in nucleotide metabolism highlights its importance in maintaining mitochondrial function and genomic stability.
Recombinant forms of 5’,3’-Nucleotidase, mitochondrial, are valuable tools in biochemical research. They allow scientists to study the enzyme’s structure, function, and interactions in a controlled environment. Understanding the enzyme’s mechanisms can lead to insights into mitochondrial diseases and potential therapeutic targets.