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

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001030018 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $299.00 14

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RefSeq Version NM_001030018.1, 71773200
Length 673 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA.
Product adenine phosphoribosyltransferase isoform b

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 Synonym:AMP; APRTD
Exon (2)116..222
Gene Synonym:AMP; APRTD
Exon (3)223..356
Gene Synonym:AMP; APRTD
Exon (4)357..435
Gene Synonym:AMP; APRTD
Exon (5)436..673
Gene Synonym:AMP; APRTD
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Position Chain Variation Link
complement(17)-t, adbSNP:2911456
complement(125)-t, gdbSNP:8191472
complement(127)-g, adbSNP:149476467
complement(132)-t, cdbSNP:8191473
complement(161)-, gdbSNP:35148077
complement(170)-g, adbSNP:200598967
complement(197)-g, adbSNP:145490332
complement(220)-g, adbSNP:201579274
complement(229)-t, adbSNP:104894506
complement(254)-g, adbSNP:140329016
complement(285)-t, cdbSNP:200392753
complement(294)-c, adbSNP: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(328)-g, adbSNP:281860264
complement(329)-g, adbSNP:104894507
complement(332)-t, cdbSNP:281860262
complement(350)-g, adbSNP:202098006
complement(364)-t, cdbSNP:104894508
complement(376)-t, gdbSNP:151240811
complement(381)-t, cdbSNP:201944035
complement(397)-g, adbSNP:8191494
complement(399)-c, adbSNP:35095508
complement(404)-t, cdbSNP:201227087
complement(411)-t, cdbSNP:75205792
complement(447)-g, adbSNP:2070256
complement(491)-t, cdbSNP:8191497
complement(596)-g, adbSNP:137965502
complement(598)-g, cdbSNP:181364821
complement(622)-g, c, adbSNP:4695
complement(626)-g, adbSNP:8191498
complement(670)-c, adbSNP:3177509
Gene SymbolAPRT
Gene SynonymAMP; APRTD
Locus Map16q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000485 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA. In-stock $308.00 $259.00 10
NM_001030018 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. On-demand $299.00 14
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,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 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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