PRPS2 phosphoribosyl pyrophosphate synthetase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPS2provided by HGNC
Official Full Name: phosphoribosyl pyrophosphate synthetase 2provided by HGNC
Primary source: HGNC:HGNC:9465
See related: Ensembl:ENSG00000101911 MIM:311860; AllianceGenome:HGNC:9465
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: PRSII
Summary: This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression: Broad expression in testis (RPKM 94.5), adrenal (RPKM 26.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (12791412..12824222)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (12372896..12405716)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (12809531..12842341)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma.
Title: Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma.
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.
[Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue].
Title: [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue].
PRPS2 promotes the migration and invasion of cultured colorectal cancer cells through regulating the activity of MMP-9 and the expression of E-cadherin.
Title: Targeted Quantitative Kinome Analysis Identifies PRPS2 as a Promoter for Colorectal Cancer Metastasis.
PRPS2 expression correlates with Sertoli-cell only syndrome and inhibits the apoptosis of TM4 Sertoli cells via the p53/Bcl-2/caspases signaling pathway.
Title: PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells.
Meta-analysis of genome-wide association studies identifies a novel variant in PRPS2 on Xp22.3 as susceptibility locus for systemic lupus erythematosus.
Title: Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.
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.
Title: Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress.
Analysis of in vivo C-MYC interactions with TS, IMPDH2 and PRPS2 genes confirmed that they are direct C-MYC targets.
Title: Direct role of nucleotide metabolism in C-MYC-dependent proliferation of melanoma cells.
increased activity of this gene leads to gout
Title: [Increased activity of PRPP synthetase].

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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

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

GDB:216878 (e-PCR)
- UniSTS:156220

RH12477 (e-PCR)
- UniSTS:29503

DXS8283 (e-PCR)
- UniSTS:76130

GDB:192492 (e-PCR)
- UniSTS:99462

RH119240 (e-PCR)
- UniSTS:138748

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
enables ribose phosphate diphosphokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribose phosphate diphosphokinase activity	ISS Inferred from Sequence or Structural Similarity more info

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 nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in pentose-phosphate shunt	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribonucleoside monophosphate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ribose-phosphate pyrophosphokinase 2

Names: PPRibP synthetase; PRS-II; phosphoribosyl pyrophosphate synthase II; ribose-phosphate diphosphokinase 2; testicular secretory protein Li 41

NP_001034180.1

EC 2.7.6.1

NP_002756.1

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_016717.1 RefSeqGene

Range

5058..37868

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001039091.3 → NP_001034180.1 ribose-phosphate pyrophosphokinase 2 isoform 1

See identical proteins and their annotated locations for NP_001034180.1

Status: REVIEWED

Description

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

Source sequence(s)

BC110875, BC119662, BU675363, DA478574

Consensus CDS

CCDS43918.1

UniProtKB/TrEMBL

A0A140VK41, B2R860

Related

ENSP00000381504.2, ENST00000398491.6

Conserved Domains (1) summary

COG0462
Location:1 → 316

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
NM_002765.5 → NP_002756.1 ribose-phosphate pyrophosphokinase 2 isoform 2

See identical proteins and their annotated locations for NP_002756.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

BC110875, BU675363, DA478574

Consensus CDS

CCDS14150.1

UniProtKB/Swiss-Prot

P11908, Q0VDH9, Q0VDI0, Q15245, Q2TAK7

UniProtKB/TrEMBL

B2R860

Related

ENSP00000370043.5, ENST00000380668.10

Conserved Domains (1) summary

COG0462
Location:1 → 313

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