PRPS1L1 Gene (Phosphoribosyl Pyrophosphate Synthetase 1 Like 1)
Genetic, functional, and clinical insights into PRPS1L1, a gene encoding a phosphoribosyl pyrophosphate synthetase subunit with tissue-specific expression and potential roles in nucleotide metabolism.
Gene Information Card
| Symbol | PRPS1L1 |
|---|---|
| Full Name | Phosphoribosyl pyrophosphate synthetase 1 like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.1 (GRCh38) |
| NCBI Gene ID | 221823 ncbi.nlm.nih.gov/gene/221823 |
| Ensembl ID | ENSG00000176490 |
| UniProt ID | Q6P5T6 |
| OMIM ID | 300653 |
| HGNC ID | 19117 |
| Aliases | PRPS1L1, RP11-395P17.3, phosphoribosyl pyrophosphate synthetase-associated protein 1 |
Description
PRPS1L1 encodes a protein that is similar to phosphoribosyl pyrophosphate synthetase 1 (PRPS1), an enzyme involved in nucleotide biosynthesis. The protein is predicted to be a subunit of the phosphoribosyl pyrophosphate synthetase complex, which catalyzes the conversion of ribose-5-phosphate to phosphoribosyl pyrophosphate (PRPP), a key precursor for purine and pyrimidine synthesis. PRPS1L1 is expressed in a tissue-specific manner, with highest levels in testis and certain brain regions, suggesting a specialized role in these tissues. The gene is located on chromosome 7p21.1 and is distinct from the X-linked PRPS1 gene. Mutations in PRPS1L1 have not been extensively characterized, but its homology to PRPS1 suggests potential involvement in disorders of nucleotide metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established; PRPS1L1 is not currently linked to any Mendelian disorder in OMIM or ClinVar. | No direct evidence; based on database review (OMIM, ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (no GTEx data for PRPS1L1) | High (based on RNA-seq from Human Protein Atlas) |
| Brain (cerebellum) | Not available | Medium (based on RNA-seq from Human Protein Atlas) |
| Other tissues | Not available | Low or not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No specific cell line data | Not available | No data in Human Protein Atlas or CCLE for PRPS1L1. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | Not applicable | Not applicable | No pathogenic variants in ClinVar or COSMIC for PRPS1L1. |
Mutation functional classification
Loss of Function (LOF)
No evidence; no loss-of-function mutations reported in databases.
Gain of Function (GOF)
No evidence; no gain-of-function mutations reported.
Dominant Negative (DN)
No evidence; no dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Purine metabolism (Reactome: R-HSA-73843)
• Pyrimidine metabolism (Reactome: R-HSA-73848)
• Pentose phosphate pathway (Reactome: R-HSA-71336)
Protein Summary
The PRPS1L1 protein is a 318-amino acid polypeptide that shares ~50% sequence identity with PRPS1. It is predicted to be a catalytic subunit of the PRPP synthetase complex, but its exact enzymatic activity has not been experimentally confirmed. Structural analysis suggests it may have a role in regulating PRPP availability in specific tissues. The protein is localized in the cytoplasm and may interact with other PRPS subunits. Post-translational modifications and subcellular localization have not been fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPS1L1 Knockout HEK293 Cell Line | EDJ-KQ8127 | Human | 221823 | Details Get a Quote |
| PRPS1L1 Knockout HeLa Cell Line | EDJ-KQ59177 | Human | 221823 | Details Get a Quote |
| PRPS1L1 Knockout A-549 Cell Line | EDJ-KQ67648 | Human | 221823 | Details Get a Quote |
| PRPS1L1 Knockout HCT 116 Cell Line | EDJ-KQ76034 | Human | 221823 | Details Get a Quote |
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