NT5C


Description

The NT5C (5', 3'-nucleotidase, cytosolic) is a protein-coding gene located on chromosome 17.

The NT5C gene encodes a cytosolic nucleotidase called 5',3'-nucleotidase, cytosolic (cdN), also known as 5'(3')-deoxyribonucleotidase, cytosolic type (cdN) or deoxy-5'-nucleotidase 1 (dNT-1). This enzyme is responsible for dephosphorylating the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. It has a unique preference for 5'-dNTP among different nucleotidases. NT5C may play a role in regulating the dNTP pools in cells. Alternative splicing of NT5C gene produces various transcript variants.

cdN is one of seven 5' nucleotidases identified in humans, each having distinct tissue specificity, subcellular location, primary structure and substrate specificity. cdN is most closely related to the mitochondrial counterpart of cdN (mdN), encoded by NT5M gene. Both NT5M and NT5C genes share similar exon/intron organization, and their amino acid sequences are 52% identical. cdN and mdN share similar catalytic phosphate binding sites with most members of the haloacid dehalogenase (HAD) superfamily. This enzyme forms a homodimer composed of two 22-kDa subunits, each consisting of a core domain and a cap domain. The core domain, encompassing residues 1-17 and 77-201, is an α/β Rossmann-like fold containing six antiparallel β-strands surrounded by α-helixes. The cap domain, spanning residues 18-76, is a 4-helix bundle.

NT5C is also known as DNT, DNT1, HEL74, P5N2, PN-I, PN-II, UMPH2, cdN, dNT-1.

Associated Diseases


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