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It has been suggested that Purine nucleoside phosphorylase be merged into this article or section. (Discuss) |
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| Nucleoside phosphorylase | |||||||||||
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| PDB rendering based on 1m73. | |||||||||||
| Available structures | |||||||||||
| 1m73, 1pf7, 1pwy, 1rct, 1rfg, 1rr6, 1rsz, 1rt9, 1ula, 1ulb, 1v2h, 1v3q, 1v41, 1v45, 1yry, 2a0w, 2a0x, 2a0y, 2oc4, 2oc9, 2on6 | |||||||||||
| Identifiers | |||||||||||
| Symbols | NP; MGC117396; MGC125915; MGC125916; PNP; PRO1837; PUNP | ||||||||||
| External IDs | OMIM: 164050 HomoloGene: 227 | ||||||||||
| EC number | 2.4.2.1 | ||||||||||
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| RNA expression pattern | |||||||||||
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| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 4860 | n/a | |||||||||
| Ensembl | ENSG00000198805 | n/a | |||||||||
| UniProt | P00491 | n/a | |||||||||
| RefSeq | NM_000270 (mRNA) | n/a (mRNA) | |||||||||
| NP_000261 (protein) | n/a (protein) | ||||||||||
| Location | Chr 14: 20.01 - 20.02 Mb |
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| PubMed search | [1] | n/a | |||||||||
Purine nucleoside phosphorylase is an enzyme that in humans is encoded by the NP gene.[1]
NP encodes the enzyme purine nucleoside phosphorylase that together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in either enzyme result in a severe combined immunodeficiency (SCID).[1]
Nucleoside phosphorylase is an enzyme which cleaves a nucleoside by phosphorylating the ribose to produce a nucleobase and ribose 1 phosphate. It is one enzyme of the nucleotide salvage pathways. These pathways allow the cell to produce nucleotide monophosphates when the de novo synthesis pathway has been interrupted or is non-existent (as is the case in the brain). Often the de novo pathway is interrupted as a result of chemotherapy drugs such as methotrexate or aminopterin.
All salvage pathway enzymes require a high energy phosphate donor such as ATP or PRPP.
- Thymidine can be phosphorylated by thymidine kinase (TK).
- Uridine can be phosphorylated by uridine kinase (UK).
- Cytidine can be phosphorylated by cytidine kinase (CK).
- Deoxycytidine can be phosphorylated by deoxycytidine kinase (DOK).
Adenosine uses the enzyme adenosine kinase, which is a very important enzyme in the cell. Attempts are being made to develop an inhibitor for the enzyme for use in cancer chemotherapy.
See also
References
Further reading
- Markert ML (1991). "Purine nucleoside phosphorylase deficiency.". Immunodeficiency reviews 3 (1): 45–81. PMID 1931007.
- Borgers M, Verhaegen H, De Brabander M, et al. (1978). "Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL).". Blood 52 (5): 886–95. PMID 100152.
- Aust MR, Andrews LG, Barrett MJ, et al. (1992). "Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.". Am. J. Hum. Genet. 51 (4): 763–72. PMID 1384322.
- Andrews LG, Markert ML (1992). "Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.". J. Biol. Chem. 267 (11): 7834–8. PMID 1560016.
- Jonsson JJ, Williams SR, McIvor RS (1991). "Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.". Nucleic Acids Res. 19 (18): 5015–20. doi:. PMID 1923769.
- Ealick SE, Rule SA, Carter DC, et al. (1990). "Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.". J. Biol. Chem. 265 (3): 1812–20. PMID 2104852.
- Williams SR, Gekeler V, McIvor RS, Martin DW (1987). "A human purine nucleoside phosphorylase deficiency caused by a single base change.". J. Biol. Chem. 262 (5): 2332–8. PMID 3029074.
- Williams SR, Goddard JM, Martin DW (1984). "Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.". Nucleic Acids Res. 12 (14): 5779–87. doi:. PMID 6087295.
- Pannicke U, Tuchschmid P, Friedrich W, et al. (1997). "Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.". Hum. Genet. 98 (6): 706–9. doi:. PMID 8931706.
- Markert ML, Finkel BD, McLaughlin TM, et al. (1997). "Mutations in purine nucleoside phosphorylase deficiency.". Hum. Mutat. 9 (2): 118–21. doi:. PMID 9067751.
- Erion MD, Takabayashi K, Smith HB, et al. (1997). "Purine nucleoside phosphorylase. 1. Structure-function studies.". Biochemistry 36 (39): 11725–34. doi:. PMID 9305962.
- Erion MD, Stoeckler JD, Guida WC, et al. (1997). "Purine nucleoside phosphorylase. 2. Catalytic mechanism.". Biochemistry 36 (39): 11735–48. doi:. PMID 9305963.
- Stoeckler JD, Poirot AF, Smith RM, et al. (1997). "Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis.". Biochemistry 36 (39): 11749–56. doi:. PMID 9305964.
- Sasaki Y, Iseki M, Yamaguchi S, et al. (1998). "Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.". Hum. Genet. 103 (1): 81–5. doi:. PMID 9737781.
- Sheppard TL, Ordoukhanian P, Joyce GF (2000). "A DNA enzyme with N-glycosylase activity.". Proc. Natl. Acad. Sci. U.S.A. 97 (14): 7802–7. doi:. PMID 10884411.
- Dalal I, Grunebaum E, Cohen A, Roifman CM (2001). "Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.". Clin. Genet. 59 (6): 430–7. doi:. PMID 11453975.
- Ivings L, Pennington SR, Jenkins R, et al. (2002). "Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin.". Biochem. J. 363 (Pt 3): 599–608. doi:. PMID 11964161.
- Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.". Nat. Genet. 31 (3): 289–94. doi:. PMID 12068295.
- Stoychev G, Kierdaszuk B, Shugar D (2002). "Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems.". Eur. J. Biochem. 269 (16): 4048–57. doi:. PMID 12180982.
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