RPIA ribose 5-phosphate isomerase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPIAprovided by HGNC
Official Full Name: ribose 5-phosphate isomerase Aprovided by HGNC
Primary source: HGNC:HGNC:10297
See related: Ensembl:ENSG00000153574 MIM:180430; AllianceGenome:HGNC:10297
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: RPI; RPIAD
Summary: The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (88691673..88750929)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (88703670..88759952)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (88991191..89050446)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Suppression of Ribose-5-Phosphate Isomerase a Induces ROS to Activate Autophagy, Apoptosis, and Cellular Senescence in Lung Cancer.
Title: Suppression of Ribose-5-Phosphate Isomerase a Induces ROS to Activate Autophagy, Apoptosis, and Cellular Senescence in Lung Cancer.
We report on a subject with RPIA associated progressive leukoencephalopathy with elevated urine arabitol and ribitol levels and a novel missense variant c.770T>C p.(Ile257Thr) in exon 8 of RPIA. We also compare the phenotypes of all the four subjects. Our report confirms the phenotype and the genetic cause of this condition.
Title: Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.
SRC-2 controls the pentose phosphate pathway through RPIA in human endometrial cancer cells.
Title: Steroid Receptor Coactivator-2 Controls the Pentose Phosphate Pathway through RPIA in Human Endometrial Cancer Cells.
The results are consistent with a model in which RPIA suppresses autophagy and LC3 processing by modulation of redox signaling.
Title: Ribose 5-phosphate isomerase inhibits LC3 processing and basal autophagy.
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.
Title: MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
In this work, through an in silico comparative analysis between the genomes of Leishmania major and Homo sapiens, the enzyme ribose 5-phosphate isomerase (R5PI) was indicated as a promising molecular target.
Title: Structural modeling and docking studies of ribose 5-phosphate isomerase from Leishmania major and Homo sapiens: a comparative analysis for Leishmaniasis treatment.
Study provides new insight into the molecular mechanisms by which RPIA overexpression can induce oncogenesis in hepatocellular carcinoma.
Title: Ribose-5-phosphate isomerase A regulates hepatocarcinogenesis via PP2A and ERK signaling.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Deficiency of ribose-5-phosphate isomerase MedGen: C1291609 OMIM: 608611 GeneReviews: Not available	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

RH10995 (e-PCR)
- UniSTS:14909

RH69369 (e-PCR)
- UniSTS:51778

RH98874 (e-PCR)
- UniSTS:87937

RH45144 (e-PCR)
- UniSTS:60650

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables monosaccharide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribose-5-phosphate isomerase activity	EXP Inferred from Experiment more info	PubMed
enables ribose-5-phosphate isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribose-5-phosphate isomerase activity	NAS Non-traceable Author Statement more info	PubMed
enables ribose-5-phosphate isomerase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in D-ribose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pentose-phosphate shunt	TAS Traceable Author Statement more info
involved_in pentose-phosphate shunt, non-oxidative branch	IBA Inferred from Biological aspect of Ancestor more info

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
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: ribose-5-phosphate isomerase

Names: phosphoriboisomerase; ribose 5-phosphate epimerase

NP_653164.2

EC 5.3.1.6

XP_047299689.1

EC 5.3.1.6

XP_054197022.1

EC 5.3.1.6

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_016710.2 RefSeqGene

Range

5002..64258

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_144563.3 → NP_653164.2 ribose-5-phosphate isomerase

See identical proteins and their annotated locations for NP_653164.2

Status: REVIEWED

Source sequence(s)

BC015529, BF063086, CB989690

Consensus CDS

CCDS2004.2

UniProtKB/Swiss-Prot

P49247, Q541P9, Q96BJ6

Related

ENSP00000283646.3, ENST00000283646.5

Conserved Domains (1) summary

cd01398
Location:81 → 298

RPI_A; RPI_A: Ribose 5-phosphate isomerase type A (RPI_A) subfamily; RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate, the first step of the non-oxidative branch of the pentose phosphate pathway. This reaction leads to the ...