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 0.000

Synonym

Accession Q9H0P0 A8K253 B2RAA5 B8ZZC4 Q6IPZ1 Q6NXS6 Q7L3G6 Q9P0P5 Q9UC42 Q9UC43 Q9UC44 Q9UC45
Symbols p36
PN-I
POMP
PSN1
UMPH
NT5C3
P5N-1
UMPH1
hUMP1
P5'N-1
cN-III

Gene

PANTHER Protein Class (2)

PDB

2CN1   2JGA   2VKQ  

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.
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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.
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