Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.
| RefSeq Version | NM_000270.3, 270288734 |
| Length | 2438 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. |
| Product | purine nucleoside phosphorylase |
| Comment | Summary: This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_000261.2 |
| CDS | 147..1016 | Exon (1) | 1..157 | Exon (2) | 1..157 | Exon (3) | 158..327 | Exon (4) | 328..431 | Exon (5) | 432..607 | Exon (6) | 608..798 | Exon (7) | 799..2421 |
| Translation | MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRST
VPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGL
NPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQ
MGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSL
ITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS
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| Position | Chain | Variation | Link |
| 51 | + | a, g | dbSNP:17881206 |
| 56 | + | g, t | dbSNP:115464597 |
| 64 | + | c, g | dbSNP:113248050 |
| complement(206) | - | g, a | dbSNP:1049562 |
| 216 | + | c, t | dbSNP:104894455 |
| complement(297) | - | t, g, c, a | dbSNP:1049564 |
| 317 | + | c, t | dbSNP:1130650 |
| 318 | + | c, t | dbSNP:104894460 |
| 411 | + | a, g | dbSNP:104894453 |
| 529 | + | a, g | dbSNP:104894450 |
| 666 | + | c, g | dbSNP:104894454 |
| 668 | + | a, t | dbSNP:17881554 |
| 721 | + | a, g | dbSNP:104894452 |
| 825 | + | a, g | dbSNP:61755047 |
| 847 | + | c, g | dbSNP:104894451 |
| 1194 | + | c, t | dbSNP:76571622 |
| 1241 | + | a, g | dbSNP:111742618 |
| 1270 | + | c, t | dbSNP:7785 |
| 1297 | + | c, t | dbSNP:112999633 |
| 1410 | + | c, t | dbSNP:1049700 |
| 1540..1541 | + | , g | dbSNP:35139440 |
| 1611 | + | c, t | dbSNP:17878900 |
| complement(1744) | - | g, a | dbSNP:1760933 |
| 1815 | + | a, g | dbSNP:61013934 |
| 1827 | + | a, g | dbSNP:17883795 |
| 1832 | + | c, t | dbSNP:79538439 |
| 2073 | + | c, t | dbSNP:60379427 |
| 2104 | + | c, t | dbSNP:78123301 |
| 2121..2122 | + | , g | dbSNP:58280014 |
| 2122..2123 | + | , g | dbSNP:71998761 |
| 2162 | + | a, c | dbSNP:56141845 |
| 2214 | + | c, t | dbSNP:78097234 |
| 2249 | + | c, t | dbSNP:1079376 |
| 2288 | + | c, t | dbSNP:112849922 |
| complement(2314) | - | c, a | dbSNP:2481768 |
| 2325..2326 | + | , t | dbSNP:35903997 |
| 2358 | + | a, t | dbSNP:60605707 |
| 2407 | + | c, t | dbSNP:1079375 |
| Gene Symbol | PNP |
| Gene Synonym | FLJ94043; FLJ97288; FLJ97312; MGC117396; MGC125915; MGC125916; NP; PRO1837; PUNP |
| Chromosome | 14 |
| Locus Map | 14q13.1 |
| All Transcripts | NM_000270 |
| Title | Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion . |
| Author | Hwang,Y.H., Chen,Y.H., Su,Y.N., Hsu,C.C., Chen,Y.H. and Yuan,T.H. |
| Journal | J Environ Monit 12 (6), 1247-1254 (2010) |
| Title | Conformational states of human purine nucleoside phosphorylase at rest, at work, and with transition state analogues . |
| Author | Edwards,A.A., Tipton,J.D., Brenowitz,M.D., Emmett,M.R., Marshall,A.G., Evans,G.B., Tyler,P.C. and Schramm,V.L. |
| Journal | Biochemistry 49 (9), 2058-2067 (2010) |
| Title | Crystal structure and molecular dynamics studies of human purine nucleoside phosphorylase complexed with 7-deazaguanine . |
| Author | Caceres,R.A., Timmers,L.F., Pauli,I., Gava,L.M., Ducati,R.G., Basso,L.A., Santos,D.S. and de Azevedo,W.F. Jr. |
| Journal | J. Struct. Biol. 169 (3), 379-388 (2010) |
| Title | Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase . |
| Author | Edwards,A.A., Mason,J.M., Clinch,K., Tyler,P.C., Evans,G.B. and Schramm,V.L. |
| Journal | Biochemistry 48 (23), 5226-5238 (2009) |
| Title | Loop-tryptophan human purine nucleoside phosphorylase reveals submillisecond protein dynamics . |
| Author | Ghanem,M., Zhadin,N., Callender,R. and Schramm,V.L. |
| Journal | Biochemistry 48 (16), 3658-3668 (2009) |
| Title | Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency . |
| Author | Aust,M.R., Andrews,L.G., Barrett,M.J., Norby-Slycord,C.J. and Markert,M.L. |
| Journal | Am. J. Hum. Genet. 51 (4), 763-772 (1992) |
| Title | Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency . |
| Author | Andrews,L.G. and Markert,M.L. |
| Journal | J. Biol. Chem. 267 (11), 7834-7838 (1992) |
| Title | Sequence and functional characterization of the human purine nucleoside phosphorylase promoter . |
| Author | Jonsson,J.J., Williams,S.R. and McIvor,R.S. |
| Journal | Nucleic Acids Res. 19 (18), 5015-5020 (1991) |
| Title | Purine nucleoside phosphorylase deficiency . |
| Author | Markert,M.L. |
| Journal | Immunodefic Rev 3 (1), 45-81 (1991) |
| Title | Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL) . |
| Author | Borgers,M., Verhaegen,H., De Brabander,M., De Cree,J., De Cock,W., Thone,F. and Geuens,G. |
| Journal | Blood 52 (5), 886-895 (1978) |
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