Protein Prps1

URN	urn:agi-llid:5631
Connectivity	9
Name	Prps1
Description	phosphoribosyl pyrophosphate synthetase 1
Notes	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]

Pathway	de novo purine biosynthetic pathway
	'Copy of 'de novo purine biosynthetic pathway'
	de novo purine biosynthetic pathwaylatest
	Copy of 'de novo purine biosynthetic pathwaylatest'
	Copy of 'de novo purine biosynthetic pathwaylatest'
	de novo purine biosynthetic pathway

GO Molecular Function	nucleotide binding
	transferase activity
	sugar binding
	protein homodimerization activity
	AMP binding
	ADP binding
	ATP binding
	GDP binding
	magnesium ion binding
	kinase activity
	ribose phosphate diphosphokinase activity

GO Biological Process	nervous system development
	organ regeneration
	cellular biosynthetic process
	ribose phosphate metabolic process
	purine base metabolic process
	pyrimidine nucleotide biosynthetic process
	purine nucleotide biosynthetic process
	urate biosynthetic process
	hypoxanthine biosynthetic process
	AMP biosynthetic process
	nucleotide biosynthetic process
	ribonucleoside monophosphate biosynthetic process
	nucleoside metabolic process

Ariadne Ontology	Pentose-phosphate shunt
	Purine metabolism

Group	Pentose-phosphate shunt
	Purine metabolism
	nervous system development
	organ regeneration
	cellular biosynthetic process
	ribose phosphate metabolic process
	purine base metabolic process
	pyrimidine nucleotide biosynthetic process
	purine nucleotide biosynthetic process
	urate biosynthetic process
	hypoxanthine biosynthetic process
	AMP biosynthetic process
	nucleotide biosynthetic process
	ribonucleoside monophosphate biosynthetic process
	nucleoside metabolic process
	nucleotide binding
	transferase activity
	sugar binding
	protein homodimerization activity
	AMP binding
	ADP binding
	ATP binding
	GDP binding
	magnesium ion binding
	kinase activity
	ribose phosphate diphosphokinase activity
	protein complex
	soluble fraction
	cytosol

MedScan ID	5631

Hugo ID	9462

Human chromosome position	Xq21.32-q24

Alias	ARTS
	DFN2
	PRSI
	CMTX5
	DFNX1
	PPRibP
	KIAA0967
	RP11-540N4.1
	ribose-phosphate pyrophosphokinase 1
	PRS-I
	OTTHUMP00000023809
	ribose-phosphate diphosphokinase 1
	phosphoribosyl pyrophosphate synthase I
	dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
	C76571
	C76678
	Prps-1
	2310010D17Rik
	RP23-137E3.3
	OTTMUSP00000020407
	phosphoribosyl pyrophosphate synthetase I
	Sid6061
	1700011K15
	1700011K15Rik
	2310010D17
	2310010D17Rik(2)
	6720461H18
	Arts syndrome gene
	Charcot-Marie-Tooth disease, X-linked recessive, 5
	dj1070b1.2
	dj1070b1.2 (phosphoribosyl pyrophosphate synthase 1)
	OTTHUMP00000023807
	phosphoribosyl pyrophosphate synthase 1
	phosphoribosyl pyrophosphate synthetase 1
	PPRibP 1
	PPRibP I
	PRPS I
	PRPS1
	PRS I
	Ribose-phosphate pyrophosphokinase I

Mouse chromosome position	X 60.0 cM

Rat chromosome position	Xq35

PIR ID	A35465
	JX0159

EC Number	2.7.6.1

Cell Localization	Cytoplasm

Homologene ID	68275

RGD ID	61955

MGI ID	97775