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PRPS1 Gene

protein-coding GIFtS: 64

GC0XP096496

phosphoribosyl pyrophosphate synthetase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
phosphoribosyl pyrophosphate synthetase 1¹ ²		ribose-phosphate diphosphokinase 1²
CMTX5¹ ² ⁵		PRSI²
Phosphoribosyl pyrophosphate synthase I² ³		ribose-phosphate pyrophosphokinase 1²
PPRibP² ³		KIAA0967²
PRS-I² ³		dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)²
DFNX1² ⁵		ARTS²
DFN2² ⁵		EC 2.7.6.1³
OTTHUMP00000023809²

External Ids:	HGNC: 9462¹	Entrez Gene: 5631²	Ensembl: ENSG00000147224⁷	UniProtKB: P60891³

Export aliases for PRPS1 gene to outside databases

Previous GC identifers: GC0XP102183 GC0XP103790 GC0XP104904 GC0XP105643 GC0XP106677 GC0XP106871

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRPS1:

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. (provided by RefSeq)

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891

Function: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PRPS1 gene promoter:
         E2F   E2F-1   E2F-2   E2F-3a   E2F-4   E2F-5   GATA-3   GATA-2   GATA-1   RORalpha2
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PRPS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.32-q24 Ensembl cytogenetic band: Xq22.3 HGNC cytogenetic band: Xq21-q27

PRPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPS1 gene location

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP096496: view genomic region (about GC identifiers)

Start:	96,496,454 bp from pter
End:	96,518,960 bp from pter
Size:	22,507 bases
Orientation:	plus strand

1 alternative location:

ChrX+ 106,871,654-106,894,256

RefSeq DNA sequence:

NC_000023.10 NT_011651.17

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891 (See protein sequence)

Recommended Name: Ribose-phosphate pyrophosphokinase 1

Size: 318 amino acids; 34834 Da

Cofactor: Magnesium

Subunit: Homodimer. The active form is probably an hexamer composed of 3 homodimers

PDB structures from and Proteopedia :

2H06 (3D)

2H07 (3D)

2H08 (3D)

2HCR (3D)

3EFH (3D)

Secondary accessions: B1ALA8 P09329

Explore the universe of human proteins at neXtProt for PRPS1: NX_P60891

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_002755.1

ENSEMBL proteins:

ENSP00000361496 ENSP00000361505 ENSP00000361495 ENSP00000361512

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PRPS1 OriGene Protein Over-expression Lysate: PRPS1
	GenScript Custom Purified and Recombinant Proteins Services for PRPS1
	Novus Biologicals Proteins for PRPS1
	Novus Biologicals Lysate for PRPS1
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PRPS1

1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	EXP	4328836

About this table

PRPS1 for ontologies About GeneDecksing

Antibodies for PRPS1:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for PRPS1
	Novus Biologicals Antibodies for PRPS1
	Epitomics antibodies for PRPS1

Assays for PRPS1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PRPS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PRPS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PRPS1 for domains About GeneDecksing

3 InterPro domains/families:

IPR000842 PRib_PP_synth_CS

IPR005946 PRib_PPkinase

IPR000836 PRibTrfase

Graphical View of Domain Structure for InterPro Entry P60891

ProtoNet protein and cluster: P60891

1 Blocks protein family: IPB000842 Phosphoribosyl pyrophosphate synthetase

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891

Similarity: Belongs to the ribose-phosphate pyrophosphokinase family

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891

Function: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis

Catalytic activity: ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate

Enzyme regulation: Activated by magnesium and inorganic phosphate

Enzyme Number (IUBMB): EC 2.7.6.1

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Sigma-Aldrich Nano Scale siRNA for PRPS1 Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PRPS1 Sigma-Aldrich shRNA Panels and shRNA for PRPS1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PRPS1 OriGene shRNA RFP (see all 2): PRPS1 OriGene basic RS shRNA (see all 2): PRPS1 OriGene siRNA: PRPS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PRPS1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PRPS1
		6 SABiosciences Assays for microRNAs that regulate PRPS1:
		hsa-miR-320a hsa-miR-124 hsa-miR-320b hsa-miR-506 hsa-miR-320d hsa-miR-320c

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PRPS1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PRPS1 OriGene untagged cDNA clones in CMV expression vector: PRPS1 OriGene 3'-UTR clone: PRPS1 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PRPS1
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PRPS1

Genatlas biochemistry entry for PRPS1:

phosphoribosyl pyrophosphate synthetase 1

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004749	ribose phosphate diphosphokinase activity	IMP	12847698
GO:0005524	ATP binding	IDA	16939420
GO:0016301	kinase activity	IEA	--

About this table

PRPS1 for ontologies About GeneDecksing

Animal Models: 1 MGI phenotypic allele for Prps1 (no phenotypes)

PRPS1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PRPS1 for pathways About GeneDecksing

3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for PRPS1

	Histidine Metabolism
	Pentose Phosphate Pathway
	Purine Metabolism

4 Kegg Pathways (Kegg details for PRPS1):

	hsa00030 Pentose phosphate pathway
	hsa00230 Purine metabolism
	hsa01100 Metabolic pathways
	hsa01120 Microbial metabolism in diverse environments

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891

Pathway: Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis;

5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1

  SABiosciences Pathway-Focused PCR Array including PRPS1: PAHS-006A

  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PRPS1
  SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PRPS1

5/14 Interacting proteins for PRPS1 (ENSP00000361512³) via UniProtKB, MINT, and/or STRING (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPAT	ENSP00000264220³	STRING: ENSP00000264220
RPIA	ENSP00000283646³	STRING: ENSP00000283646
NUDT5	ENSP00000368219³	STRING: ENSP00000368219
NUDT9	ENSP00000303575³	STRING: ENSP00000303575
PGM3	ENSP00000283977³	STRING: ENSP00000283977

About this table

5/12 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 12):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	TAS	--
GO:0006144	purine base metabolic process	IMP	8253776
GO:0006164	purine nucleotide biosynthetic process	IMP	12847698
GO:0006221	pyrimidine nucleotide biosynthetic process	NAS	17701896

About this table

PRPS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PRPS1 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRPS1
4 Novoseek chemical compound relationships for PRPS1 gene

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
prpp	94.9	16	1650777 (2), 10066814 (2), 17701896 (2), 8253776 (1) (see all 8)
purine	75.8	2	10066814 (1), 17701896 (1)
uric acid	70.2	4	12847698 (1), 17701896 (1), 17322061 (1)
histidine	35.7	1	12847698 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Sigma-Aldrich Nano Scale siRNA for PRPS1 Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PRPS1 Sigma-Aldrich shRNA Panels and shRNA for PRPS1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PRPS1 OriGene shRNA RFP (see all 2): PRPS1 OriGene basic RS shRNA (see all 2): PRPS1 OriGene siRNA: PRPS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PRPS1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PRPS1
		6 SABiosciences Assays for microRNAs that regulate PRPS1:
		hsa-miR-320a hsa-miR-124 hsa-miR-320b hsa-miR-506 hsa-miR-320d hsa-miR-320c

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PRPS1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PRPS1 OriGene untagged cDNA clones in CMV expression vector: PRPS1 OriGene 3'-UTR Clone: PRPS1 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PRPS1

Primers:		OriGene genome-wide validated SYBR primer pairs: PRPS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PRPS1: PPH06976A

REFSEQ mRNAs for PRPS1 gene:

NM_002764.3

Additional cDNA sequence:

AK223169.1 AK297968.1 AK307748.1 AK312706.1 AK316467.1 BC001605.1 CR606516.1 CR622039.1

D00860.1 X15331.1

7 DOTS entries:

DT.114016 DT.100823782 DT.95204379 DT.95204419 DT.91772293 DT.95204420 DT.101957008

24/309 AceView cDNA sequences (see all 309):

AA651884 AU148538 BF111835 CB528986 BI492608 BG030588 BX446018 BQ644987

BQ225894 D00860 BP343101 BQ654358 BU735482 BQ012108 BP345205 W47297

BQ065037 BU632139 CD367172 BG167817 CN482042 BF446300 BI492552 BP345106

highest scoring ESTs for PRPS1:

D00860 AA197006 AA224595 AA533543 AA651884 AA761545 AA780137 AA809309 AA913694 AA928479

Unigene Cluster for PRPS1:

Phosphoribosyl pyrophosphate synthetase 1

Hs.56 [show with all ESTs]

Unigene Representative Sequence: NM_002764

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b
SP1:											-				-
SP2:									-		-				-
SP3:									-		-				-
SP4:											-
SP5:

About this scheme

ECgene alternative splicing isoforms for PRPS1
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372419 ENST00000372428(uc010npg.2 uc011msj.1) ENST00000372418

ENST00000372435(uc004ene.3)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PRPS1 expression in normal and diseased human tissues

¹ / ² / ³

6 probe-sets matching PRPS1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36490_s_at²^{, 3}	U95-A	1	1.00	1.00	0.86	0.86	X15331	0.80	1.00	0.91	1
36489_at²^{, 3}	U95-A	1	0.88	1.00	0.78	1.15	D00860	1.00	1.00	1.00	1
209440_at²^{, 3}	U133-A	1	0.91	1.00	--	--	BC001605	0.80	1.00	0.91	1
208447_s_at²^{, 3}	U133-A	2	0.91	0.95	--	--	NM_002764	0.60	1.00	0.82	1
209440_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--
208447_s_at²	U133Plus2	2	0.91	0.95	--	--	--	--	--	--	--

About this table

PRPS1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

PRPS1 gene electronic northern expression

About these images

CGAP SAGE TAG: CTTCCTGCTA

SOURCE GeneReport for Unigene cluster: Hs.56

Expression variation in blood from EXPOLDB for PRPS1

Primers:		OriGene genome-wide validated SYBR primer pairs: PRPS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PRPS1: PPH06976A

SABiosciences Expression via Pathway-Focused PCR Array including PRPS1: PAHS-006A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PRPS1 gene from 5/16 species (see all 16)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PRPS1¹	--	phosphoribosyl pyrophosphate synthetase 1	93.5(n) 100(a)	481011 XM_857391.1 XP_862484.1
chimpanzee (Pan troglodytes)	PRPS1¹	--	phosphoribosyl pyrophosphate synthetase 1	100(n) 100(a)	465800 XM_001144504.1 XP_001144504.1
cow (Bos taurus)	PRPS1¹	--	phosphoribosyl pyrophosphate synthetase 1	93.29(n) 100(a)	781227 XM_001249583.1 XP_001249584.1
rat (Rattus norvegicus)	Prps1¹	--	phosphoribosyl pyrophosphate synthetase 1	92.03(n) 100(a)	29562 NM_017243.1 NP_058939.1
mouse (Mus musculus)	Prps1^{1 , 5}	X (61.35 cM)⁵	phosphoribosyl pyrophosphate synthetase 1^{1, 5}	92.45(n)¹ 100(a)¹	19139¹ NM_021463.3¹ NP_067438.1¹ AB025048⁵ AK009265⁵ (see all 23)

About this table Species with no ortholog for PRPS1

ENSEMBL Gene Tree for PRPS1 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PRPS1 gene

PRPSAP1² PRPS2² PRPS1L1² PRPSAP2²

PRPS1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1126445^1,2	--	106893399(+)	`TAGAGC/GTTATC`	1	--	ut3¹ ese³		0	--	--	--	--
rs1804226^1,2	--	106894184(+)	`AACTGA/GGATTC`	1	--	ut3¹		0	--	--	--	--
rs1924215^1,2	C,F,A,	106870803(+)	`TGCTTA/GAAATA`	1	--	ng5¹ tfbs³		15		NA EA NS WA	1175
rs1924216^1,2	C,F,A,	106871085(+)	`CCATCT/CTCCTT`	1	--	ng5¹		6		MN NS EA WA	604
rs5962867^1,2	C,F,A,	106870205(+)	`ctatgC/Tatttt`	1	--	ng5¹		5		NS EA WA	418
rs5962868^1,2	C	106878639(+)	`GATATA/GTGGAG`	1	--	int¹		4		NS EA	418
rs5962869^1,2	C,A	106879601(+)	`tgcctG/Tggcct`	1	--	int¹		0	--	--	--	--
rs5962870^1,2	C	106893651(+)	`CCCATA/GTGTGA`	1	--	ut3¹ ese³		0	--	--	--	--
rs6622249^1,2	A	106893786(+)	`GGGGGG/TGGGGG`	1	--	ut3¹		0	--	--	--	--
rs6622250^1,2	A	106893787(+)	`GGGGTG/TGGGGG`	1	--	ut3¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for PRPS1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PRPS1: --

QIAGEN SeqTarget long-range PCR primers for resequencing PRPS1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PRPS1 for disorders About GeneDecksing

OMIM: 311850 disorders: 300661 311070 301835 304500

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891

Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)

[MIM:300661]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production,

gout and uric acid urolithiasis

Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070];

also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of

Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth

disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary

peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less

than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by

normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy

Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:301835]; also known as fatal ataxia X-linked with

deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia,

delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the

upper respiratory tract, can result in early death

Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:304500]; also known as congenital

sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound

sensorineural hearing loss in males. Females manifest mild to moderate hearing loss

1 Novoseek disease relationship for PRPS1 gene

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gout	75.8	1	17701896 (1)

About this table

2 PharmGKB disease relationships for PRPS1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Gout	FA	4200723
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872 12730115

About this table

Genatlas disease: PRPS1

gout,with/without neurodevelopmental abnormalities (PRPS over expression)

GeneTests: PRPS1

Arts Syndrome

Locus Specific Mutation Databases (LSDB): PRPS1
Human Gene Mutation Database (HGMD): PRPS1

Export disorders and mutations for PRPS1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/37 PubMed articles for PRPS1 gene, integrated from 7 sources (see all 37):
(articles sorted by number of sources associating them with PRPS1)

Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families. (PubMed id 1650777)^{1, 2, 7} Sonoda T.... Tatibana M. (1991)
Arts syndrome is caused by loss-of-function mutations in PRPS1. (PubMed id 17701896)^{1, 2, 7} de Brouwer A.P.M.... van Bokhoven H. (2007)
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). (PubMed id 17701900)^{1, 2, 7} Kim H.-J.... Kim J.-W. (2007)
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (PubMed id 20021999)^{1, 2} Liu X....Yuan H. (2010)
Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site. (PubMed id 16939420)^{1, 2} Li S.... Ding J. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The genetic and functional basis of purine nucleotide feedback- resistant phosphoribosylpyrophosphate synthetase superactivity. (PubMed id 7593598)^{1, 2} Becker M.A.... Switzer R.L. (1995)
Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. (PubMed id 1314091)^{1, 2} Ishizuka T.... Tatibana M. (1992)
Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. (PubMed id 1962753)^{1, 3} Becker M.A....Roessler B.J. (1990)
Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA. (PubMed id 2155397)^{1, 2} Roessler B.J.... Palella T.D. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5631	HGNC: 9462	AceView: PRPS1	Ensembl:ENSG00000147224	euGenes: HUgn5631
ECgene: PRPS1	Kegg: 5631	H-InvDB: PRPS1

(According to HUGE)
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HUGE: KIAA0967

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Intellectual Property for PRPS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for PRPS1 gene:
Search GeneIP for patents involving PRPS1

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