PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

2007-02-01 Affiliation

Identity

HGNC

PRPS1

LOCATION

Xq22.3

LOCUSID

5631

ALIAS

ARTS,CMTX5,DFN2,DFNX1,PPRibP,PRS-I,PRSI

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147224	ENST00000372418	B1ALA9
ENSG00000147224	ENST00000372419	B1ALA7
ENSG00000147224	ENST00000372428	B7ZB02
ENSG00000147224	ENST00000372435	P60891
ENSG00000147224	ENST00000643795	A0A2R8Y7H4
ENSG00000147224	ENST00000644642	Q15244
ENSG00000147224	ENST00000645638	Q15244
ENSG00000147224	ENST00000646815	Q15244

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Pentose phosphate pathway	KEGG	ko00030
Purine metabolism	KEGG	ko00230
Pentose phosphate pathway	KEGG	hsa00030
Purine metabolism	KEGG	hsa00230
Metabolic pathways	KEGG	hsa01100
PRPP biosynthesis, ribose 5P => PRPP	KEGG	hsa_M00005
PRPP biosynthesis, ribose 5P => PRPP	KEGG	M00005
Biosynthesis of amino acids	KEGG	hsa01230
Biosynthesis of amino acids	KEGG	ko01230
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
5-Phosphoribose 1-diphosphate biosynthesis	REACTOME	R-HSA-73843

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25962120	2015	Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.	46
20021999	2010	Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.	33
16939420	2007	Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site.	30
17701900	2007	Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).	30
20380929	2010	PRPS1 mutations: four distinct syndromes and potential treatment.	30
26248089	2015	MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.	28
17701896	2007	Arts syndrome is caused by loss-of-function mutations in PRPS1.	24
21869827	2012	The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo.	18
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.	15
26089585	2015	Association of PRPS1 Mutations with Disease Phenotypes.	15

Citation

Dessen P

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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