NT5C3

From Wikipedia, the free encyclopedia

5'-nucleotidase, cytosolic III

PDB rendering based on 2bdu.

Available structures: 2bdu, 2cn1, 2g06, 2g07, 2g08, 2g09, 2g0a, 2jga

Identifiers

Symbol(s)

NT5C3; PN-I; MGC27337; MGC87109; MGC87828; P5'N-1; PSN1; UMPH; UMPH1; cN-III

External IDs

OMIM: 606224 MGI: 1927186 HomoloGene: 9534

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • 5'-nucleotidase activity • 2'-phosphotransferase activity • hydrolase activity
Cellular Component:	• cytoplasm • endoplasmic reticulum
Biological Process:	• pyrimidine nucleoside metabolic process • nucleotide metabolic process

Orthologs

Human

Mouse

Refseq

NM_001002009 (mRNA)
NP_001002009 (protein)

NM_026004 (mRNA)
NP_080280 (protein)

Location

Chr 7: 33.02 - 33.07 Mb

Chr 6: 56.81 - 56.85 Mb

Pubmed search

[1]

[2]

5'-nucleotidase, cytosolic III, also known as NT5C3, is a human gene.^[1]

Pyrimidine 5-prime-nucleotidase (P5N; EC 3.1.3.5), 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; MIM 191720). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: NT5C3 5'-nucleotidase, cytosolic III.

[edit] Further reading

Amici A, Emanuelli M, Ferretti E, et al. (1995). "Homogeneous pyrimidine nucleotidase from human erythrocytes: enzymic and molecular properties.". Biochem. J. 304 ( Pt 3): 987–92. PMID 7818506.
Rich SA, Bose M, Tempst P, Rudofsky UH (1996). "Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions.". J. Biol. Chem. 271 (2): 1118–26. PMID 8557639.
Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. PMID 8889549.
Amici A, Emanuelli M, Magni G, et al. (1998). "Pyrimidine nucleotidases from human erythrocyte possess phosphotransferase activities specific for pyrimidine nucleotides.". FEBS Lett. 419 (2-3): 263–7. PMID 9428647.
Amici A, Emanuelli M, Raffaelli N, et al. (2000). "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 (4): 1596–8. PMID 10942414.
Zhang QH, Ye M, Wu XY, et al. (2001). "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 (10): 1546–60. PMID 11042152.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166.
Marinaki AM, Escuredo E, Duley JA, et al. (2001). "Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.". Blood 97 (11): 3327–32. PMID 11369620.
Amici A, Magni G (2002). "Human erythrocyte pyrimidine 5'-nucleotidase, PN-I.". Arch. Biochem. Biophys. 397 (2): 184–90. doi:10.1006/abbi.2001.2676. PMID 11795870.
Amici A, Emanuelli M, Ruggieri S, et al. (2003). "Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases.". Meth. Enzymol. 354: 149–59. PMID 12418222.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Balta G, Gumruk F, Akarsu N, et al. (2003). "Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.". Blood 102 (5): 1900–3. doi:10.1182/blood-2003-02-0628. PMID 12714505.
Bianchi P, Fermo E, Alfinito F, et al. (2003). "Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.". Br. J. Haematol. 122 (5): 847–51. PMID 12930399.
Kanno H, Takizawa T, Miwa S, Fujii H (2004). "Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.". Br. J. Haematol. 126 (2): 265–71. doi:10.1111/j.1365-2141.2004.05029.x. PMID 15238149.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
Chiarelli LR, Bianchi P, Fermo E, et al. (2005). "Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.". Blood 105 (8): 3340–5. doi:10.1182/blood-2004-10-3895. PMID 15604219.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.