InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRPS1

Summary

InnateDB Protein

IDBP-81489.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRPS1

Protein Name

phosphoribosyl pyrophosphate synthetase 1

Synonyms

ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I; PRSI;

Species

Homo sapiens

Ensembl Protein

ENSP00000361512

InnateDB Gene

IDBG-81487 (PRPS1)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Disease Associations

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269PubMed:7593598, ECO:0000269Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. 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. {ECO:0000269PubMed:17701900}. Note=The disease is caused by mutations affecting the gene represented in this entry.ARTS syndrome (ARTS) [MIM:301835]: 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. {ECO:0000269PubMed:17701896}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. {ECO:0000269PubMed:20021999}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0004749	ribose phosphate diphosphokinase activity
GO:0005524	ATP binding
GO:0016301	kinase activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process
GO:0006144	purine nucleobase metabolic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006221	pyrimidine nucleotide biosynthetic process
GO:0007399	nervous system development
GO:0008219	cell death
GO:0009116	nucleoside metabolic process
GO:0009165	nucleotide biosynthetic process
GO:0016310	phosphorylation
GO:0034418	urate biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046101	hypoxanthine biosynthetic process