5'-Nucleotidase, Cytosolic III (NT5C3)

UMPH1; PSN1; PN-I; UMPH; P5'N-1; p36; cN-III; Pyrimidine 5'-nucleotidase 1; Uridine 5'-monophosphate hydrolase 1

SPN	S847
HGNC	17820
MGI	1927186
PubMed	19623099
RGD	1312013
UniProt	Q9H0P0
Wiki	NT5C3

Pyrimidine 5-prime-nucleotidase (P5N), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1) and type II (UMPH2). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology. Cloning of UMPH1 and expression in E. coli demonstrated that the protein consists of 286 amino acids and is identical to a previously identified lupus inclusion protein, p36. Marinaki et al.determined that alternative splicing of exon 2 results in a 297-amino acid form of the protein.

Reference

"Human erythrocyte pyrimidine 5'-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon."
Blood 96:1596-1598(2000) [PubMed] [Europe PMC] [Abstract]

"Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency."
Blood 97:3327-3332(2001) [PubMed] [Europe PMC] [Abstract]

"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]

"Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions."
J. Biol. Chem. 271:1118-1126(1996) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia."
Blood 105:3340-3345(2005) [PubMed] [Europe PMC] [Abstract]

"Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase."
Cell. Mol. Life Sci. 62:1613-1620(2005) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition."
J. Biol. Chem. 282:17828-17836(2007) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency."
Br. J. Haematol. 122:847-851(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency."
Br. J. Haematol. 126:265-271(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations."
Haematologica 91:266-267(2006) [PubMed] [Europe PMC] [Abstract]

"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."
Blood Cells Mol. Dis. 40:295-301(2008) [PubMed] [Europe PMC] [Abstract]

"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."
Blood Cells Mol. Dis. 53:246-252(2014) [PubMed] [Europe PMC] [Abstract]