Sequence in raw or FASTA format:
Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA.
| RefSeq Version | NM_001030018.1, 71773200 |
| Length | 673 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. |
| Product | adenine phosphoribosyltransferase isoform b |
| Comment | Summary: Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (2) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. |
| RefSeq | NP_001025189.1 |
| CDS | 36..440 | Exon (1) | 1..115 | Exon (2) | 1..115 | Exon (3) | 116..222 | Exon (4) | 223..356 | Exon (5) | 357..435 | Exon (6) | 436..673 |
| Translation | MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDY
IAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPG
QRVVVVDDLLATGV
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| Position | Chain | Variation | Link |
| complement(17) | - | t, a | dbSNP:2911456 |
| 125 | + | g, t | dbSNP:8191472 |
| 132 | + | c, t | dbSNP:8191473 |
| complement(160) | - | , g | dbSNP:35148077 |
| 229 | + | a, t | dbSNP:104894506 |
| 294 | + | a, c | dbSNP:3169258 |
| complement(295) | - | t, c | dbSNP:117335001 |
| 329 | + | a, g | dbSNP:104894507 |
| 364 | + | c, t | dbSNP:104894508 |
| 397 | + | a, g | dbSNP:8191494 |
| 399 | + | a, c | dbSNP:35095508 |
| complement(411) | - | t, c | dbSNP:75205792 |
| 447 | + | a, g | dbSNP:2070256 |
| 491 | + | c, t | dbSNP:8191497 |
| 622 | + | a, c, g | dbSNP:4695 |
| 626 | + | a, g | dbSNP:8191498 |
| 670 | + | a, c | dbSNP:3177509 |
| Gene Symbol | APRT |
| Gene Synonym | AMP; DKFZp686D13177; MGC125856; MGC125857; MGC129961 |
| Chromosome | 16 |
| Locus Map | 16q24 |
| All Transcripts | NM_001030018 , NM_000485 |
| Title | The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP . |
| Author | Treharne,K.J., Best,O.G. and Mehta,A. |
| Journal | Mol. Cell. Biochem. 329 (1-2), 107-114 (2009) |
| Title | Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism . |
| Author | Silva,C.H., Silva,M., Iulek,J. and Thiemann,O.H. |
| Journal | J. Biomol. Struct. Dyn. 25 (6), 589-597 (2008) |
| Title | Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure . |
| Author | Di Pietro,V., Perruzza,I., Amorini,A.M., Balducci,A., Ceccarelli,L., Lazzarino,G., Barsotti,P., Giardina,B. and Tavazzi,B. |
| Journal | Clin. Biochem. 40 (1-2), 73-80 (2007) |
| Title | Large-scale mapping of human protein-protein interactions by mass spectrometry . |
| Author | Ewing,R.M., Chu,P., Elisma,F., Li,H., Taylor,P., Climie,S., McBroom-Cerajewski,L., Robinson,M.D., O'Connor,L., Li,M., Taylor,R., Dharsee,M., Ho,Y., Heilbut,A., Moore,L., Zhang,S., Ornatsky,O., Bukhman,Y.V., Ethier,M., Sheng,Y., Vasilescu,J., Abu-Farha,M., Lambert,J.P., Duewel,H.S., Stewart,I.I., Kuehl,B., Hogue,K., Colwill,K., Gladwish,K., Muskat,B., Kinach,R., Adams,S.L., Moran,M.F., Morin,G.B., Topaloglou,T. and Figeys,D. |
| Journal | Mol. Syst. Biol. 3, 89 (2007) |
| Title | Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis . |
| Author | Bruneel,A., Labas,V., Mailloux,A., Sharma,S., Royer,N., Vinh,J., Pernet,P., Vaubourdolle,M. and Baudin,B. |
| Journal | Proteomics 5 (15), 3876-3884 (2005) |
| Title | Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients . |
| Author | Kamatani,N., Hakoda,M., Otsuka,S., Yoshikawa,H. and Kashiwazaki,S. |
| Journal | J. Clin. Invest. 90 (1), 130-135 (1992) |
| Title | Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient . |
| Author | Chen,J., Sahota,A., Laxdal,T., Scrine,M., Bowman,S., Cui,C., Stambrook,P.J. and Tischfield,J.A. |
| Journal | Am. J. Hum. Genet. 49 (6), 1306-1311 (1991) |
| Title | Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity . |
| Author | Ludwig,H., Kuzmits,R., Pietschmann,H. and Muller,M.M. |
| Journal | Blut 39 (5), 309-315 (1979) |
| Title | Human adenine phosphoribosyltransferase. Affinity purification, subunit structure, amino acid composition, and peptide mapping . |
| Author | Holden,J.A., Meredith,G.S. and Kelley,W.N. |
| Journal | J. Biol. Chem. 254 (15), 6951-6955 (1979) |
| Title | Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population . |
| Author | Johnson,L.A., Gordon,R.B. and Emmerson,B.T. |
| Journal | Biochem. Genet. 15 (3-4), 265-272 (1977) |
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