Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

2.7.6.1

Official Name

ribose-phosphate diphosphokinase

Name from literature

phosphoribosyl pyrophosphate synthetase

Pathway from literature

purine biosynthesis

Pathway from KEGG

Nucleotide Metabolism; Purine metabolism; map00230

Carbohydrate Metabolism; Pentose phosphate pathway; map00030

Organisms

Human (9606)

Genome localization

7p21.1[221823 ], Xp22.3-p22.2[5634 ], Xq21.32-q24[5631 ],

Comments

dATP can also act as donor.

Rate-limiting Description

"The product of the enzyme 5-phosphoribosyl-1-pyrophosphate (PPriboseP) synthetase is a substrate for purine, pyrimidine, and pyridine biosynthesis and may be rate limiting for purine biosynthesis." (217337)

Regulatory Information

Upstream transcription factor

2033

Regulatory type

Detail

transcriptional factor;p300(2033)

"p300 may play a role in the regulation of DNA synthesis through interactions with PRS1" (15943588)

phosphorylation;

P21108

Gene ontology

Gene ontology

GO:0000287 (F) magnesium ion binding [Q53FW2, P21108, A6NMS2, Q6P5P6, P60891, P11908 ];
GO:0007399 (P) nervous system development [P60891 ];
GO:0006164 (P) purine nucleotide biosynthetic process [P60891 ];
GO:0004749 (F) ribose phosphate diphosphokinase activity [Q53FW2, P21108, A6NMS2, Q6P5P6, P60891, P11908 ];
GO:0046101 (P) hypoxanthine biosynthetic process [P60891 ];
GO:0042803 (F) protein homodimerization activity [P60891 ];
GO:0007605 (P) sensory perception of sound [P60891 ];
GO:0034418 (P) urate biosynthetic process [P60891 ];
GO:0005829 (C) cytosol [P60891 ];
GO:0006221 (P) pyrimidine nucleotide biosynthetic process [P60891 ];
GO:0005524 (F) ATP binding [P60891 ];
GO:0016301 (F) kinase activity [Q53FW2, P21108, A6NMS2, Q6P5P6, P60891, P11908 ];
GO:0009116 (P) nucleoside metabolic process [Q53FW2, P21108, A6NMS2, Q6P5P6, P60891, P11908 ];
GO:0009156 (P) ribonucleoside monophosphate biosynthetic p... [Q53FW2, P21108, A6NMS2, Q6P5P6, P60891, P11908 ];
GO:0044249 (P) cellular biosynthetic process [Q53FW2, P21108, A6NMS2, Q6P5P6, P11908 ];

Tissue expression

Tissue From HPRD

Testis [17914, 02414 ];
Ovary [02414 ];
Hematopoietic stem cell [02413 ];

Tissue specificity

Testis [P21108 ];

Disease relevance

Disease

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 [P60891 ];

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 [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 [P60891 ];

Links

SwissProt

A6NMS2; P11908; P21108; P60891; Q53FW2; Q6P5P6

Entrez Gene

221823; 5631; 5634

HPRD

02413; 02414; 17914



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min