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PRPS1 phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens (human)]

Gene Symbol PRPS1
Entrez Gene ID 5631
Full Name phosphoribosyl pyrophosphate synthetase 1
Synonyms ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
General protein information
Preferred Names
ribose-phosphate pyrophosphokinase 1
Names
ribose-phosphate pyrophosphokinase 1
deafness 2, perceptive, congenital
ribose-phosphate diphosphokinase 1
phosphoribosyl pyrophosphate synthase I
deafness, X-linked 2, perceptive, congenital
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
NP_001191331.1
NP_002755.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq22.3

Summary This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. lac of sum
Disorder MIM:

311850

Disorder Html: Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu26049 NM_002764 Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu21900 NM_001204402 Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 2, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1-C-(k)DYK after clone is added to cart.



CloneID OHu26049D
Sequence Information ORF Nucleotide Sequence (Length: 957bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ribose-phosphate pyrophosphokinase 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL137787.11 and BC001605.1. This sequence is a reference standard in the RefSeqGene project. On Jan 12, 2008 this sequence version replaced gi:19923737. Summary: This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D00860.1, AK223169.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGCCGAATA TCAAAATCTT CAGCGGCAGC TCCCACCAGG ACTTATCTCA GAAAATTGCT 
GACCGCCTGG GCCTGGAGCT AGGCAAGGTG GTGACTAAGA AATTCAGCAA CCAGGAGACC
TGTGTGGAAA TTGGTGAAAG TGTACGTGGA GAGGATGTCT ACATTGTTCA GAGTGGTTGT
GGCGAAATCA ATGACAATTT AATGGAGCTT TTGATCATGA TTAATGCCTG CAAGATTGCT
TCAGCCAGCC GGGTTACTGC AGTCATCCCA TGCTTCCCTT ATGCCCGGCA GGATAAGAAA
GATAAGAGCC GGGCGCCAAT CTCAGCCAAG CTTGTTGCAA ATATGCTATC TGTAGCAGGT
GCAGATCATA TTATCACCAT GGACCTACAT GCTTCTCAAA TTCAGGGCTT TTTTGATATC
CCAGTAGACA ATTTGTATGC AGAGCCGGCT GTCCTAAAGT GGATAAGGGA GAATATCTCT
GAGTGGAGGA ACTGCACTAT TGTCTCACCT GATGCTGGTG GAGCTAAGAG AGTGACCTCC
ATTGCAGACA GGCTGAATGT GGACTTTGCC TTGATTCACA AAGAACGGAA GAAGGCCAAT
GAAGTGGACC GCATGGTGCT TGTGGGAGAT GTGAAGGATC GGGTGGCCAT CCTTGTGGAT
GACATGGCTG ACACTTGTGG CACAATCTGC CATGCAGCTG ACAAACTTCT CTCAGCTGGC
GCCACCAGAG TTTATGCCAT CTTGACTCAT GGAATCTTCT CCGGTCCTGC TATTTCTCGC
ATCAACAACG CATGCTTTGA GGCAGTAGTA GTCACCAATA CCATACCTCA GGAGGACAAG
ATGAAGCATT GCTCCAAAAT ACAGGTGATT GACATCTCTA TGATCCTTGC AGAAGCCATC
AGGAGAACTC ACAATGGAGA ATCCGTTTCT TACCTATTCA GCCATGTCCC TTTATAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_002755.1
CDS206..1162
Misc Feature(1)194..196(+)
Misc Feature(2)206..1144(+)
Misc Feature(3)215..565(+)
Misc Feature(4)644..1027(+)
Misc Feature(5)716..961(+)
Misc Feature(6)839..886(+)
Exon (1)1..327
Gene:PRPS1
Gene Synonym:
Exon (2)328..511
Gene:PRPS1
Gene Synonym:
Exon (3)512..610
Gene:PRPS1
Gene Synonym:
Exon (4)611..735
Gene:PRPS1
Gene Synonym:
Exon (5)736..909
Gene:PRPS1
Gene Synonym:
Exon (6)910..1069
Gene:PRPS1
Gene Synonym:
Exon (7)1070..2156
Gene:PRPS1
Gene Synonym:
Translation
Position Chain Variation Link
7 7 a, t dbSNP:750915295
31 31 c, t dbSNP:758827912
53 53 -, g dbSNP:768856537
130 130 g, t dbSNP:751262798
133 133 c, t dbSNP:199968422
156 156 g, t dbSNP:772406932
162 162 -, g dbSNP:761523210
170 170 a, g dbSNP:371006312
173 173 a, c, t dbSNP:776399830
202 202 c, t dbSNP:765129709
217 217 c, t dbSNP:752590804
229 229 c, t dbSNP:754682838
235 235 c, g dbSNP:763453976
259 259 a, g dbSNP:751085506
265 265 c, t dbSNP:756853882
312 312 c, g dbSNP:780954680
328 328 c, t dbSNP:777304127
334 334 a, c dbSNP:80338731
359 359 c, g dbSNP:137852542
382 382 a, t dbSNP:147896410
388 388 a, c, t dbSNP:371538576
389 389 a, g dbSNP:773719662
398 398 a, g dbSNP:180177151
448 448 a, g dbSNP:780551723
453 453 g, t dbSNP:767243595
454 454 c, t dbSNP:750054054
464 464 a, g dbSNP:180177152
466 466 a, c dbSNP:755850703
475 475 a, c, t dbSNP:766786656
493 493 a, g dbSNP:752194539
520 520 a, g dbSNP:768455048
540 540 c, t dbSNP:11541075
541 541 c, t dbSNP:80338674
542 542 g, t dbSNP:587781261
546 546 a, g dbSNP:137852540
548 548 a, g dbSNP:587781262
549 549 c, t dbSNP:80338732
553 553 a, g dbSNP:774382720
567 567 c, g dbSNP:587777150
590 590 a, c dbSNP:137852543
603 603 a, c dbSNP:80338675
625 625 c, t dbSNP:373971736
629 629 c, g dbSNP:398122855
638 638 c, t dbSNP:768454424
649 649 a, g dbSNP:201285459
652 652 a, g, t dbSNP:80338730
659 659 c, t dbSNP:772838760
660 660 c, t dbSNP:80338676
661 661 a, c, g dbSNP:61735617
682 682 c, t dbSNP:61752962
697 697 c, t dbSNP:776308065
704 704 a, g dbSNP:759133840
752 752 c, g dbSNP:137852541
774 774 c, t dbSNP:137852544
778 778 a, g dbSNP:770518315
784 784 c, g dbSNP:137852545
799 799 a, g dbSNP:377602345
865 865 c, t dbSNP:759163993
885 885 a, g dbSNP:769401404
902 902 c, g dbSNP:200877295
925 925 c, t dbSNP:746885792
964 964 c, t dbSNP:757148256
967 967 c, t dbSNP:780750403
989 989 a, c dbSNP:745426742
1045 1045 a, g dbSNP:769464194
1063 1063 a, g dbSNP:775162729
1074 1074 c, t dbSNP:180177153
1075 1075 c, t dbSNP:754068855
1081 1081 c, t dbSNP:202233161
1104 1104 c, t dbSNP:763915105
1120 1120 a, t dbSNP:751468763
1121 1121 a, g dbSNP:180177154
1129 1129 a, c, t dbSNP:757207081
1130 1130 g, t dbSNP:587781263
1147 1147 c, t dbSNP:147731055
1177 1177 a, g dbSNP:755539554
1184 1184 c, t dbSNP:779558146
1198 1198 c, t dbSNP:748877902
1201 1201 c, t dbSNP:768298456
1244 1244 a, g dbSNP:752673062
1282 1282 c, t dbSNP:756026687
1299 1299 c, g, t dbSNP:1126445
1306 1306 a, g dbSNP:758809582
1320 1320 c, t dbSNP:777440100
1321 1321 a, g dbSNP:747334780
1328 1328 a, g dbSNP:371265973
1340 1340 a, g dbSNP:576933222
1356 1356 -, tatc dbSNP:752535865
1415 1415 -, gct dbSNP:758574318
1551 1551 a, c, g dbSNP:5962870
1597 1597 a, c dbSNP:777180568
1613 1613 c, t dbSNP:748667318
1634 1634 a, c dbSNP:760953456
1686 1686 g, t dbSNP:6622249
1687 1687 g, t dbSNP:6622250
1701 1701 c, g dbSNP:370453137
1713 1713 a, c dbSNP:113130873
1721 1721 a, g dbSNP:189408679
1813 1813 a, g dbSNP:180980520
1842 1842 c, g dbSNP:770220766
1858 1858 c, t dbSNP:374457825
1887 1887 c, t dbSNP:183744100
1924 1924 g, t dbSNP:768310830
2006 2006 c, t dbSNP:368782406
2007 2007 a, g dbSNP:763326742
2084 2084 a, g dbSNP:1804226

Target ORF information:

RefSeq Version NM_002764
Organism Homo sapiens (human)
Definition Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_002764

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGCCGAATA TCAAAATCTT CAGCGGCAGC TCCCACCAGG ACTTATCTCA GAAAATTGCT 
GACCGCCTGG GCCTGGAGCT AGGCAAGGTG GTGACTAAGA AATTCAGCAA CCAGGAGACC
TGTGTGGAAA TTGGTGAAAG TGTACGTGGA GAGGATGTCT ACATTGTTCA GAGTGGTTGT
GGCGAAATCA ATGACAATTT AATGGAGCTT TTGATCATGA TTAATGCCTG CAAGATTGCT
TCAGCCAGCC GGGTTACTGC AGTCATCCCA TGCTTCCCTT ATGCCCGGCA GGATAAGAAA
GATAAGAGCC GGGCGCCAAT CTCAGCCAAG CTTGTTGCAA ATATGCTATC TGTAGCAGGT
GCAGATCATA TTATCACCAT GGACCTACAT GCTTCTCAAA TTCAGGGCTT TTTTGATATC
CCAGTAGACA ATTTGTATGC AGAGCCGGCT GTCCTAAAGT GGATAAGGGA GAATATCTCT
GAGTGGAGGA ACTGCACTAT TGTCTCACCT GATGCTGGTG GAGCTAAGAG AGTGACCTCC
ATTGCAGACA GGCTGAATGT GGACTTTGCC TTGATTCACA AAGAACGGAA GAAGGCCAAT
GAAGTGGACC GCATGGTGCT TGTGGGAGAT GTGAAGGATC GGGTGGCCAT CCTTGTGGAT
GACATGGCTG ACACTTGTGG CACAATCTGC CATGCAGCTG ACAAACTTCT CTCAGCTGGC
GCCACCAGAG TTTATGCCAT CTTGACTCAT GGAATCTTCT CCGGTCCTGC TATTTCTCGC
ATCAACAACG CATGCTTTGA GGCAGTAGTA GTCACCAATA CCATACCTCA GGAGGACAAG
ATGAAGCATT GCTCCAAAAT ACAGGTGATT GACATCTCTA TGATCCTTGC AGAAGCCATC
AGGAGAACTC ACAATGGAGA ATCCGTTTCT TACCTATTCA GCCATGTCCC TTTATAA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.


CloneID OHu21900D
Sequence Information ORF Nucleotide Sequence (Length: 345bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ribose-phosphate pyrophosphokinase 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL137787.11, DC411129.1, AK316467.1 and D00860.1. Summary: This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK316467.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2145245 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
ATGGTGCTTG TGGGAGATGT GAAGGATCGG GTGGCCATCC TTGTGGATGA CATGGCTGAC 
ACTTGTGGCA CAATCTGCCA TGCAGCTGAC AAACTTCTCT CAGCTGGCGC CACCAGAGTT
TATGCCATCT TGACTCATGG AATCTTCTCC GGTCCTGCTA TTTCTCGCAT CAACAACGCA
TGCTTTGAGG CAGTAGTAGT CACCAATACC ATACCTCAGG AGGACAAGAT GAAGCATTGC
TCCAAAATAC AGGTGATTGA CATCTCTATG ATCCTTGCAG AAGCCATCAG GAGAACTCAC
AATGGAGAAT CCGTTTCTTA CCTATTCAGC CATGTCCCTT TATAA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001191331.1
CDS410..754
Misc Feature(1)326..328(+)
Misc Feature(2)410..619(+)
Misc Feature(3)455..553(+)
Exon (1)1..327
Gene:PRPS1
Gene Synonym:
Exon (2)328..501
Gene:PRPS1
Gene Synonym:
Exon (3)502..661
Gene:PRPS1
Gene Synonym:
Exon (4)662..1748
Gene:PRPS1
Gene Synonym:
Translation
Position Chain Variation Link
7 7 a, t dbSNP:750915295
31 31 c, t dbSNP:758827912
53 53 -, g dbSNP:768856537
130 130 g, t dbSNP:751262798
133 133 c, t dbSNP:199968422
156 156 g, t dbSNP:772406932
162 162 -, g dbSNP:761523210
170 170 a, g dbSNP:371006312
173 173 a, c, t dbSNP:776399830
202 202 c, t dbSNP:765129709
217 217 c, t dbSNP:752590804
229 229 c, t dbSNP:754682838
235 235 c, g dbSNP:763453976
259 259 a, g dbSNP:751085506
265 265 c, t dbSNP:756853882
312 312 c, g dbSNP:780954680
344 344 c, g dbSNP:137852541
366 366 c, t dbSNP:137852544
370 370 a, g dbSNP:770518315
376 376 c, g dbSNP:137852545
391 391 a, g dbSNP:377602345
457 457 c, t dbSNP:759163993
477 477 a, g dbSNP:769401404
494 494 c, g dbSNP:200877295
517 517 c, t dbSNP:746885792
556 556 c, t dbSNP:757148256
559 559 c, t dbSNP:780750403
581 581 a, c dbSNP:745426742
637 637 a, g dbSNP:769464194
655 655 a, g dbSNP:775162729
666 666 c, t dbSNP:180177153
667 667 c, t dbSNP:754068855
673 673 c, t dbSNP:202233161
696 696 c, t dbSNP:763915105
712 712 a, t dbSNP:751468763
713 713 a, g dbSNP:180177154
721 721 a, c, t dbSNP:757207081
722 722 g, t dbSNP:587781263
739 739 c, t dbSNP:147731055
769 769 a, g dbSNP:755539554
776 776 c, t dbSNP:779558146
790 790 c, t dbSNP:748877902
793 793 c, t dbSNP:768298456
836 836 a, g dbSNP:752673062
874 874 c, t dbSNP:756026687
891 891 c, g, t dbSNP:1126445
898 898 a, g dbSNP:758809582
912 912 c, t dbSNP:777440100
913 913 a, g dbSNP:747334780
920 920 a, g dbSNP:371265973
932 932 a, g dbSNP:576933222
948 948 -, tatc dbSNP:752535865
1007 1007 -, gct dbSNP:758574318
1143 1143 a, c, g dbSNP:5962870
1189 1189 a, c dbSNP:777180568
1205 1205 c, t dbSNP:748667318
1226 1226 a, c dbSNP:760953456
1278 1278 g, t dbSNP:6622249
1279 1279 g, t dbSNP:6622250
1293 1293 c, g dbSNP:370453137
1305 1305 a, c dbSNP:113130873
1313 1313 a, g dbSNP:189408679
1405 1405 a, g dbSNP:180980520
1434 1434 c, g dbSNP:770220766
1450 1450 c, t dbSNP:374457825
1479 1479 c, t dbSNP:183744100
1516 1516 g, t dbSNP:768310830
1598 1598 c, t dbSNP:368782406
1599 1599 a, g dbSNP:763326742
1676 1676 a, g dbSNP:1804226

Target ORF information:

RefSeq Version NM_001204402
Organism Homo sapiens (human)
Definition Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_001204402

ORF Insert Sequence:

1
61
121
181
241
301
ATGGTGCTTG TGGGAGATGT GAAGGATCGG GTGGCCATCC TTGTGGATGA CATGGCTGAC 
ACTTGTGGCA CAATCTGCCA TGCAGCTGAC AAACTTCTCT CAGCTGGCGC CACCAGAGTT
TATGCCATCT TGACTCATGG AATCTTCTCC GGTCCTGCTA TTTCTCGCAT CAACAACGCA
TGCTTTGAGG CAGTAGTAGT CACCAATACC ATACCTCAGG AGGACAAGAT GAAGCATTGC
TCCAAAATAC AGGTGATTGA CATCTCTATG ATCCTTGCAG AAGCCATCAG GAGAACTCAC
AATGGAGAAT CCGTTTCTTA CCTATTCAGC CATGTCCCTT TATAA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.