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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611566 Ensembl IDEnsembl:ENSG00000229937 HGNC IDHGNC:HGNC:9463 PHARMGKB IDPA33818 Map Location7p21.1 | |||||
GO terms in PRPS1L1
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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 |
Gene expression in normal tissue: PRPS1L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PRPS1L1
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRPS1L1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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