| Tbio | Ribose-phosphate pyrophosphokinase 1 |
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8492 | 2.03508691204181E-10 |
| malignant mesothelioma | 3163 | 3.16732425344392E-6 |
| posterior fossa group B ependymoma | 1530 | 1.06165578463451E-5 |
| psoriasis | 6685 | 4.58466903287997E-5 |
| cystic fibrosis | 1670 | 5.08021439899428E-5 |
| ulcerative colitis | 2087 | 1.2169070139688E-4 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 0.00121387979159409 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 0.00159225059929331 |
| osteosarcoma | 7933 | 0.00629153952061162 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 0.007103786270157 |
| Alzheimer's disease | 644 | 0.0202902510644635 |
| colon cancer | 1475 | 0.0236804878311641 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Gout | 93 | 4.116 | 2.1 |
| Nonsyndromic deafness | 121 | 3.585 | 1.8 |
| Neuropathy | 210 | 3.418 | 1.7 |
| Charcot-Marie-Tooth disease | 74 | 0.0 | 4.0 |
| Intellectual disability | 573 | 0.0 | 4.0 |
| Neurodegenerative disease | 383 | 0.0 | 4.0 |
| Retinitis pigmentosa | 156 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Sensorineural hearing loss | 107 | 4.438 | 2.2 |
| Purine nucleoside phosphorylase deficiency | 11 | 4.049 | 2.0 |
| Lesch-Nyhan syndrome | 12 | 3.823 | 1.9 |
| Hyperuricemia | 35 | 3.588 | 1.8 |
| Megalocornea | 15 | 3.078 | 1.5 |
| Disease | Target Count |
|---|---|
| Deafness, X-linked, 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | 1.300 | 0.000 |
| psoriasis | 2.700 | 0.000 |
| osteosarcoma | 1.394 | 0.006 |
| cystic fibrosis | -1.190 | 0.000 |
| pancreatic ductal adenocarcinoma liver m... | -1.275 | 0.007 |
| intraductal papillary-mucinous adenoma (... | -1.100 | 0.002 |
| intraductal papillary-mucinous carcinoma... | -1.200 | 0.001 |
| colon cancer | 1.300 | 0.024 |
| posterior fossa group B ependymoma | 1.400 | 0.000 |
| Alzheimer's disease | -1.200 | 0.020 |
| ulcerative colitis | 1.200 | 0.000 |
| ovarian cancer | -1.800 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA Inparanoid |
| Mouse | OMA EggNOG |
| Rat | OMA Inparanoid |
| Dog | OMA Inparanoid |
| Horse | OMA Inparanoid |
| Cow | OMA Inparanoid |
| Chicken | OMA Inparanoid |
| Xenopus | OMA Inparanoid |
| Zebrafish | OMA Inparanoid |
| PMID | Text |
|---|---|
| 26248089 | CRC cells that overexpressed miR124 or with knockdown of RPIA or PRPS1 had reduced DNA synthesis and proliferation, whereas cells incubated with an inhibitor of miR124 had significantly increased DNA synthesis and proliferation and formed more colonies. |
| 26089585 | evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review] |
| 25962120 | the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance. |
| 25816608 | The expression of different genes encoding subunits of PRPS enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1. |
| 25790304 | Study identified the critical region in the ARTS promoter and demonstrated that the Sp1 transcription factor could regulate the activity of the ARTS promoter through multiple Sp1 binding sites. |
| 25785835 | analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment |
| 25491489 | Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy. |
| 24528855 | respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation |
| 23509005 | The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity. |
| 23190330 | Review: discuss role of PRPS1 mutations in hearing loss. |
| More... |
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMEL 1 - 70 LIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDI 71 - 140 PVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGD 141 - 210 VKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDK 211 - 280 MKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL 281 - 318 //
| PMID | Year | Title |
|---|---|---|
| 26496610 | 2015 | A human interactome in three quantitative dimensions organized by stoichiometries and abundances. |
| 26248089 | 2015 | MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells. |
| 26089585 | 2015 | Association of PRPS1 Mutations with Disease Phenotypes. |
| 25962120 | 2015 | Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL. |
| 25816608 | Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress. | |
| 25790304 | 2015 | Specificity protein 1 transcription factor regulates human ARTS promoter activity through multiple binding sites. |
| 25785835 | 2015 | Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. |
| 25491489 | 2014 | Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. |
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 24528855 | 2014 | X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. |
| More... |
