PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

2007-02-01  

Identity

HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
ARTS,CMTX5,DFN2,DFNX1,PPRibP,PRS-I,PRSI
FUSION GENES

Other Information

Locus ID:

NCBI: 5631
MIM: 311850
HGNC: 9462
Ensembl: ENSG00000147224

Variants:

dbSNP: 5631
ClinVar: 5631
TCGA: ENSG00000147224
COSMIC: PRPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147224ENST00000372418B1ALA9
ENSG00000147224ENST00000372419B1ALA7
ENSG00000147224ENST00000372428B7ZB02
ENSG00000147224ENST00000372435P60891
ENSG00000147224ENST00000643795A0A2R8Y7H4
ENSG00000147224ENST00000644642Q15244
ENSG00000147224ENST00000645638Q15244
ENSG00000147224ENST00000646815Q15244

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Pentose phosphate pathwayKEGGko00030
Purine metabolismKEGGko00230
Pentose phosphate pathwayKEGGhsa00030
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
PRPP biosynthesis, ribose 5P => PRPPKEGGhsa_M00005
PRPP biosynthesis, ribose 5P => PRPPKEGGM00005
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
5-Phosphoribose 1-diphosphate biosynthesisREACTOMER-HSA-73843

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
350399812022Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p.4
350399812022Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p.4
334931372021PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.2
346361692021NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.3
334931372021PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.2
346361692021NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.3
317734952020A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.5
323916362020Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.5
327812722020PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.7
331054402020SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.4
317734952020A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.5
323916362020Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.5
327812722020PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.7
331054402020SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.4
312536682019Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.20

Citation

Dessen P

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46404/prps1