PRPS1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | PRPS1 |
| Official Name | phosphoribosyl pyrophosphate synthetase 1 [Source:HGNC Symbol;Acc:HGNC:9462] |
| Ensembl ID | ENSG00000147224 |
| Bio databases IDs | |
| Aliases | phosphoribosyl pyrophosphate synthetase 1, PRS I, ribose-phosphate diphosphokinase 1 |
| Synonyms | 2310010D17Rik, ARTS, C76571, CMTX5, DFN2, DFNX1, phosphoribosyl pyrophosphate synthetase 1, PPRibP, PRS-I |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRPS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ADP binding
- ribose-phosphate diphosphokinase
- ATP binding
- ATP phosphoribosyltransferase
- Phosphoribosyl transferase (PRT)-type I domain
- Phosphoribosyl synthetase-associated domain
- protein binding
- magnesium ion binding
- N-terminal domain of ribose phosphate pyrophosphokinase
- identical protein binding
- PRK00934
- kinase
- AMP binding
- GDP binding
- protein homodimerization
- ribose-phosphate pyrophosphokinase
- carbohydrate binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked deafness type 1
- phosphoribosylpyrophosphate synthetase superactivity
- Arts syndrome and phosphoribosylpyrophosphate synthetase superactivity
- Charcot-Marie-Tooth disease, X-linked recessive, type 5
- Charcot-Marie-Tooth disease
- hereditary disorder
- ulcerative colitis
- colorectal cancer
- neoplasia
- retinal dystrophy
role in cell
- migration
- proliferation
- degradation in
- apoptosis
- etoposide sensitivity
- invasion by
- synthesis in
- molecular cleavage in
- replication in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
- cytoplasmic droplets
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRPS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- urate biosynthetic process
- hypoxanthine biosynthetic process
- ribonucleoside monophosphate biosynthetic process
- purine nucleotide biosynthetic process
- nervous system development
- purine base metabolic process
- pyrimidine nucleotide biosynthetic process
- 5-phosphoribose 1-diphosphate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
- ribose phosphate diphosphokinase complex
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- ATP binding
- identical protein binding
- protein binding
- protein homodimerization activity
- ribose phosphate diphosphokinase activity
- kinase activity