PRPS1L1
Summary: This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| phosphoribosyl pyrophosphate synthetase 1-like 1 | MIM:611566 | Ensembl:ENSG00000229937 | HGNC:HGNC:9463 | PA33818 | 7p21.1 |
GO terms in PRPS1L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0000287 | magnesium ion binding |
| MF | IBA | GO:0004749 | ribose phosphate diphosphokinase activity |
| MF | ISS | GO:0004749 | ribose phosphate diphosphokinase activity |
| MF | NAS | GO:0004749 | ribose phosphate diphosphokinase activity |
| MF | ISS | GO:0005524 | ATP binding |
| MF | IEA | GO:0016301 | kinase activity |
| MF | ISS | GO:0042803 | protein homodimerization activity |
| BP | IBA | GO:0006015 | 5-phosphoribose 1-diphosphate biosynthetic process |
| BP | IEA | GO:0006015 | 5-phosphoribose 1-diphosphate biosynthetic process |
| BP | IBA | GO:0006164 | purine nucleotide biosynthetic process |
| BP | IEA | GO:0009116 | nucleoside metabolic process |
| BP | IEA | GO:0009156 | ribonucleoside monophosphate biosynthetic process |
| BP | IBA | GO:0009165 | nucleotide biosynthetic process |
| BP | IEA | GO:0009165 | nucleotide biosynthetic process |
| BP | IEA | GO:0016310 | phosphorylation |
| CC | IBA | GO:0002189 | ribose phosphate diphosphokinase complex |
| CC | ND | GO:0005575 | cellular_component |
| CC | IBA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: PRPS1L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PRPS1L1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| humancyc | PWY0-662 | PRPP biosynthesis |
| kegg | hsa00030 | Pentose phosphate pathway - Homo sapiens (human) |
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| smpdb | SMP00031 | Pentose Phosphate Pathway |
| smpdb | SMP00050 | Purine Metabolism |
| smpdb | SMP00144 | Adenosine Deaminase Deficiency |
| smpdb | SMP00167 | Adenylosuccinate Lyase Deficiency |
| smpdb | SMP00168 | AICA-Ribosiduria |
| smpdb | SMP00203 | Molybdenum Cofactor Deficiency |
| smpdb | SMP00210 | Purine Nucleoside Phosphorylase Deficiency |
| smpdb | SMP00220 | Xanthine Dehydrogenase Deficiency (Xanthinuria) |
| smpdb | SMP00364 | Lesch-Nyhan Syndrome (LNS) |
| smpdb | SMP00365 | Gout or Kelley-Seegmiller Syndrome |
| smpdb | SMP00427 | Azathioprine Action Pathway |
| smpdb | SMP00428 | Mercaptopurine Action Pathway |
| smpdb | SMP00430 | Thioguanine Action Pathway |
| smpdb | SMP00512 | Xanthinuria type I |
| smpdb | SMP00513 | Xanthinuria type II |
| smpdb | SMP00518 | Glucose-6-phosphate dehydrogenase deficiency |
| smpdb | SMP00519 | Ribose-5-phosphate isomerase deficiency |
| smpdb | SMP00520 | Transaldolase deficiency |
| smpdb | SMP00535 | Adenine phosphoribosyltransferase deficiency (APRT) |
| smpdb | SMP00536 | Mitochondrial DNA depletion syndrome |
| smpdb | SMP00537 | Myoadenylate deaminase deficiency |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-71336 | Pentose phosphate pathway |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-73843 | 5-Phosphoribose 1-diphosphate biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRPS1L1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.