Property Summary

NCBI Gene PubMed Count 30
PubMed Score 85.11
PubTator Score 581.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.900 4.4e-102

Protein-protein Interaction (1)

Gene RIF (11)

PMID Text
25153905 Pyrimidine-5'-nucleotidase Campinas is a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency.
25000516 Results show that NT5C3 expression levels were significantly increased in patients with risk allele homozygote.
23223233 analysis of Drosophila and human 7-methyl GMP-specific nucleotidases
23139015 New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19623099 genetic variation in NT5C3 might affect protein function and potentially influence drug response
18775979 In leukoblasts from 82 patients with acute myeloid leukemia, various extent and frequency of differential allelic expression in the CDA, DCK, NT5C2, NT5C3, and TP53 genes was observed.
18499901 3 newly described missense mutations (c.187T>C, c.469G>C & c.740T>C) identified in patients with hemolytic anemia were characterized at protein level; the enzymes were altered in both thermal stability and catalytic efficiency
17349762 These data highlight hUMP1/POMP role in proteasome assembly and further strengthen the prospect of genetic manipulation of the proteasomal system.
15604219 All investigated mutant proteins display impaired catalytic properties and/or reduced thermostability, providing a rationale for the pathological effects of the mutations.
12418222 Data show that PN-I shows a higher affinity for oxynucleosides rather than deoxynucleosides, while the opposite is true for PN-II.

AA Sequence

MRAPSMDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVEE      1 - 70
IICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVL     71 - 140
TVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVL    141 - 210
EEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQG    211 - 280
DLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL                  281 - 336
//

Text Mined References (38)

PMID Year Title
25153905 2014 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.
25000516 2014 NT5C3 polymorphisms and outcome of first induction chemotherapy in acute myeloid leukemia.
24603684 2014 Crystal structures of the novel cytosolic 5'-nucleotidase IIIB explain its preference for m7GMP.
23223233 2013 Identification of Drosophila and human 7-methyl GMP-specific nucleotidases.
23139015 2013 New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19623099 2009 Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.
18775979 2008 Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53.
18499901 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.
17405878 2007 Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition.
17349762 2007 Overexpression of hUMP1/POMP proteasome accessory protein enhances proteasome-mediated antioxidant defence.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16461318 2006 Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15968458 2005 Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase.
15604219 2005 Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15238149 2004 Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12930399 2003 Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.
12853948 2003 The DNA sequence of human chromosome 7.
12714505 2003 Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12418222 2002 Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases.
11795870 2002 Human erythrocyte pyrimidine 5'-nucleotidase, PN-I.
11369620 2001 Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
10942414 2000 Human erythrocyte pyrimidine 5-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon.
9428647 1997 Pyrimidine nucleotidases from human erythrocyte possess phosphotransferase activities specific for pyrimidine nucleotides.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8557639 1996 Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions.
7818506 1994 Homogeneous pyrimidine nucleotidase from human erythrocytes: enzymic and molecular properties.