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Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19571 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu19571C Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_001030018.1, 71773200
Length 405 bp
Structure linear
Update Date 19-APR-2014
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, Jul 2008].


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
Misc Feature(1)39..41
Misc Feature(2)39..41
Misc Feature(3)45..47
Misc Feature(4)78..80
Misc Feature(5)159..>434
Misc Feature(6)213..215
Misc Feature(7)order(228..230,234..236,414..422,426..434)
Misc Feature(8)231..233
Misc Feature(9)375..377
Exon (1)1..115
Gene:APRT
Gene Synonym:AMP; APRTD
Exon (2)116..222
Gene:APRT
Gene Synonym:AMP; APRTD
Exon (3)223..356
Gene:APRT
Gene Synonym:AMP; APRTD
Exon (4)357..435
Gene:APRT
Gene Synonym:AMP; APRTD
Exon (5)436..673
Gene:APRT
Gene Synonym:AMP; APRTD
Translation MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDY IAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPG QRVVVVDDLLATGV
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Position Chain Variation Link
complement(17)-t, adbSNP:2911456
complement(28)-t, cdbSNP:371641686
complement(34)-g, adbSNP:368525048
complement(125)-dbSNP:
complement(125)-t, gdbSNP:8191472
complement(127)-g, adbSNP:149476467
complement(132)-t, cdbSNP:8191473
complement(160)-, gdbSNP:35148077
complement(170)-g, adbSNP:200598967
complement(197)-g, adbSNP:145490332
complement(205)-c, adbSNP:370646722
complement(213)-c, adbSNP:369570262
complement(218)-t, gdbSNP:376027558
complement(220)-g, adbSNP:201579274
229+dbSNP:
229+a, tdbSNP:104894506
complement(234)-g, adbSNP:369681854
complement(251)-t, gdbSNP:377050219
complement(254)-g, adbSNP:140329016
complement(285)-t, cdbSNP:200392753
294+a, cdbSNP:3169258
complement(295)-t, cdbSNP:117335001
296..297+, ccgadbSNP:281860265
complement(299)-t, cdbSNP:138781159
complement(301)-t, cdbSNP:150156607
complement(305)-t, cdbSNP:200417820
complement(311)-t, cdbSNP:372253865
328+a, gdbSNP:281860264
329+a, gdbSNP:104894507
332+c, tdbSNP:281860262
complement(350)-g, adbSNP:202098006
complement(356)-t, cdbSNP:368062984
complement(360)-dbSNP:
complement(360)-c, adbSNP:368375344
364+c, tdbSNP:104894508
complement(372)-g, adbSNP:376111313
complement(376)-t, gdbSNP:151240811
complement(381)-t, cdbSNP:201944035
complement(387)-g, cdbSNP:370665100
397+a, gdbSNP:8191494
complement(397)-g, adbSNP:386616250
399+a, cdbSNP:35095508
complement(404)-t, cdbSNP:201227087
complement(408)-t, cdbSNP:376629164
complement(411)-t, cdbSNP:75205792
complement(420)-g, adbSNP:376129456
443+dbSNP:
443+c, gdbSNP:387906584
complement(446)-g, adbSNP:375180338
complement(447)-g, adbSNP:2070256
complement(458)-g, adbSNP:374275550
complement(491)-t, cdbSNP:8191497
complement(567)-t, cdbSNP:369966180
complement(596)-g, adbSNP:137965502
complement(598)-g, cdbSNP:181364821
complement(622)-g, c, adbSNP:4695
complement(626)-g, adbSNP:8191498
670+a, cdbSNP:3177509
Gene SymbolAPRT
Gene SynonymAMP; APRTD
Chromosome16
Locus Map16q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001030018 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. On-demand $159.00 7-9
NM_000485 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA. In-stock $99.00 5-7
Title A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene .
Author Nozue H, Kamoda T, Saitoh H, Ichikawa K and Taniguchi A.
Journal Acta Paediatr. 100 (12), E285-E288 (2011)
Title The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP .
Author Treharne KJ, Best OG and Mehta A.
Journal Mol. Cell. Biochem. 329 (1-2), 107-114 (2009)
Title Large-scale proteomics and phosphoproteomics of urinary exosomes .
Author Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS and Knepper MA.
Journal J. Am. Soc. Nephrol. 20 (2), 363-379 (2009)
Title Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism .
Author Silva CH, Silva M, Iulek J and Thiemann OH.
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 AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B and Tavazzi B.
Journal Clin. Biochem. 40 (1-2), 73-80 (2007)
Title Adenine Phosphoribosyltransferase Deficiency .
Author Edvardsson,V.O., Palsson,R. and Sahota,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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 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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