InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PRPS1

Summary

InnateDB Gene

IDBG-81487.6

Last Modified

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

Gene Symbol

PRPS1

Gene Name

phosphoribosyl pyrophosphate synthetase 1

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000147224

Encoded Proteins

IDBP-81489

phosphoribosyl pyrophosphate synthetase 1

IDBP-81491

phosphoribosyl pyrophosphate synthetase 1

IDBP-81493

phosphoribosyl pyrophosphate synthetase 1

IDBP-81495

phosphoribosyl pyrophosphate synthetase 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:107628424-107651026

Strand

Forward strand

Band

q22.3

Transcripts

ENST00000372435	ENSP00000361512
ENST00000372428	ENSP00000361505
ENST00000372419	ENSP00000361496
ENST00000372418	ENSP00000361495

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

Cellular Component

GO:0005829

cytosol

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_850

5-Phosphoribose 1-diphosphate biosynthesis pathway

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

hsa00030

Pentose phosphate pathway pathway

hsa00230

Purine metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

P60891

TrEMBL

B4DNL6 B7ZB02 Q15244

UniProt Splice Variant

Entrez Gene

5631

UniGene

Hs.56

RefSeq

NM_002764 NM_001204402

HUGO

HGNC:9462

OMIM

311850

CCDS

CCDS14529 CCDS76007

HPRD

02413

IMGT

EMBL

AK297968 AK312706 AK316467 AL137787 AL772400 BC001605 CH471120 D00860 D28133 X15331

GenPept

AAH01605 BAA00733 BAA05675 BAG35584 BAG60278 BAH14838 CAA33386 CAI41098 CAI42173 EAX02709 EAX02710 EAX02711

RNA Seq Atlas

5631