PRPS1 phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPS1provided by HGNC
Official Full Name: phosphoribosyl pyrophosphate synthetase 1provided by HGNC
Primary source: HGNC:HGNC:9462
See related: Ensembl:ENSG00000147224 MIM:311850; AllianceGenome:HGNC:9462
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 27.0), brain (RPKM 23.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (107628510..107651026)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (106065274..106087791)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (106871740..106894256)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p.
Title: Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p.
NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.
Title: NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.
SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.
Title: SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.
PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.
Title: PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Title: PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.
Title: Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Title: A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
High PRPS1 expression is associated with colorectal cancer.
Title: Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.
CMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for
Title: New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Our study not only provides mechanistic rationale for re-targeting drug resistant cells in acute lymphoblastic leukemia (ALL), but also implicates that ALL patients who harbor relapse-specific mutations of PRPS1 might benefit from 5-FU-based chemotherapy in clinical settings.
Title: Increase of PRPP enhances chemosensitivity of PRPS1 mutant acute lymphoblastic leukemia cells to 5-Fluorouracil.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arts syndrome MedGen: C0796028 OMIM: 301835 GeneReviews: Phosphoribosylpyrophosphate Synthetase Deficiency	Compare labs
Charcot-Marie-Tooth disease X-linked recessive 5 MedGen: C1839566 OMIM: 311070 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, Phosphoribosylpyrophosphate Synthetase Deficiency	Compare labs
Hearing loss, X-linked 1 MedGen: C1844677 OMIM: 304500 GeneReviews: Genetic Hearing Loss Overview, Phosphoribosylpyrophosphate Synthetase Deficiency	Compare labs
Hereditary hearing loss and deafness MedGen: C0236038 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Phosphoribosylpyrophosphate synthetase superactivity MedGen: C1970827 OMIM: 300661 GeneReviews: Phosphoribosylpyrophosphate Synthetase Superactivity	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36177 (e-PCR)
- UniSTS:64382

PRPS1_8569 (e-PCR)
- UniSTS:467848

AL035129 (e-PCR)
- UniSTS:94635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables ribose phosphate diphosphokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribose phosphate diphosphokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribose phosphate diphosphokinase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hypoxanthine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine nucleobase metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in purine nucleotide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyrimidine nucleotide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ribonucleoside monophosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in urate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of ribose phosphate diphosphokinase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ribose-phosphate pyrophosphokinase 1

Names: dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; phosphoribosyl pyrophosphate synthase I; ribose-phosphate diphosphokinase 1

NP_001191331.1

EC 2.7.6.1

NP_002755.1

EC 2.7.6.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008407.1 RefSeqGene

Range

5001..27603

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_264

mRNA and Protein(s)

NM_001204402.2 → NP_001191331.1 ribose-phosphate pyrophosphokinase 1 isoform 2

See identical proteins and their annotated locations for NP_001191331.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK316467, D00860, DC411129

UniProtKB/TrEMBL

B7ZB02

Conserved Domains (1) summary

PRK01259
Location:1 → 109

PRK01259; ribose-phosphate diphosphokinase
NM_002764.4 → NP_002755.1 ribose-phosphate pyrophosphokinase 1 isoform 1

See identical proteins and their annotated locations for NP_002755.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL137787, BC001605

Consensus CDS

CCDS14529.1

UniProtKB/Swiss-Prot

B1ALA8, B2R6T7, B4DNL6, D3DUX6, P09329, P60891

UniProtKB/TrEMBL

Q53FW2

Related

ENSP00000361512.4, ENST00000372435.10

Conserved Domains (1) summary

COG0462
Location:1 → 313

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]