RPE ribulose-5-phosphate-3-epimerase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPEprovided by HGNC
Official Full Name: ribulose-5-phosphate-3-epimeraseprovided by HGNC
Primary source: HGNC:HGNC:10293
See related: Ensembl:ENSG00000197713 MIM:180480; AllianceGenome:HGNC:10293
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RPE2-1
Summary: Enables D-ribulose-phosphate 3-epimerase activity; metal ion binding activity; and protein homodimerization activity. Involved in carbohydrate metabolic process and pentose-phosphate shunt. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.9), adrenal (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q34

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (210002638..210022260)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (210483346..210502965)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (210867362..210886984)

Chromosome 2 - NC_000002.12 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?

The binary complexes of RPE reported here will aid in the design of small molecules for modulating the activity of the enzyme and altering flux through the pentose phosphate pathway.
Title: Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new insights from structural and biochemical studies on human RPE.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH91925 (e-PCR)
- UniSTS:92687

RH11048 (e-PCR)
- UniSTS:87351

G37533 (e-PCR)
- UniSTS:28055

D2S1686E (e-PCR)
- UniSTS:150715

RPE__5521 (e-PCR)
- UniSTS:464093

MARC_5533-5534:1031674173:1 (e-PCR)
- UniSTS:269537

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-ribulose-phosphate 3-epimerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-ribulose-phosphate 3-epimerase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbohydrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pentose-phosphate shunt	IDA Inferred from Direct Assay more info	PubMed
involved_in pentose-phosphate shunt, non-oxidative branch	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: ribulose-phosphate 3-epimerase

NP_001265211.1

EC 5.1.3.1

NP_001265212.1

EC 5.1.3.1

NP_001265214.1

EC 5.1.3.1

NP_001265215.1

EC 5.1.3.1

NP_001265217.1

EC 5.1.3.1

NP_001265218.1

EC 5.1.3.1

NP_001305855.1

EC 5.1.3.1

NP_001305856.1

EC 5.1.3.1

NP_001305857.1

EC 5.1.3.1

NP_001305858.1

EC 5.1.3.1

NP_001305859.1

EC 5.1.3.1

NP_001305860.1

EC 5.1.3.1

NP_008847.1

EC 5.1.3.1

NP_954699.1

EC 5.1.3.1

XP_006712740.1

EC 5.1.3.1

XP_047301337.1

EC 5.1.3.1

XP_054199260.1

EC 5.1.3.1

XP_054199261.1

EC 5.1.3.1

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.

mRNA and Protein(s)

NM_001278282.2 → NP_001265211.1 ribulose-phosphate 3-epimerase isoform 2

See identical proteins and their annotated locations for NP_001265211.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon and contains two alternate exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AB075523, AI222711, BC005148, BC063135

Consensus CDS

CCDS42810.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000401838.1, ENST00000429921.5

Conserved Domains (1) summary

cd00429
Location:1 → 164

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001278283.2 → NP_001265212.1 ribulose-phosphate 3-epimerase isoform 2

See identical proteins and their annotated locations for NP_001265212.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains two alternate exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AB075523, AI222711, AK093658, BC005148, BC063135

Consensus CDS

CCDS42810.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000403808.2, ENST00000436630.6

Conserved Domains (1) summary

cd00429
Location:1 → 164

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001278285.2 → NP_001265214.1 ribulose-phosphate 3-epimerase isoform 3

See identical proteins and their annotated locations for NP_001265214.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AB075523, AI222711, AK303184, BC005148

Consensus CDS

CCDS63107.1

UniProtKB/Swiss-Prot

Q96AT9

Related

ENSP00000346501.7, ENST00000354506.10

Conserved Domains (1) summary

cd00429
Location:6 → 185

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001278286.2 → NP_001265215.1 ribulose-phosphate 3-epimerase isoform 4

See identical proteins and their annotated locations for NP_001265215.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).

Source sequence(s)

AB075523, AI222711, AK308741, BC005148, DC403549

Consensus CDS

CCDS63108.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000389411.1, ENST00000411934.6

Conserved Domains (1) summary

cd00429
Location:1 → 146

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001278288.2 → NP_001265217.1 ribulose-phosphate 3-epimerase isoform 4

See identical proteins and their annotated locations for NP_001265217.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).

Source sequence(s)

AB075523, AI222711, BC005148, DA237285

Consensus CDS

CCDS63108.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000402061.1, ENST00000438204.6

Conserved Domains (1) summary

cd00429
Location:1 → 146

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001278289.2 → NP_001265218.1 ribulose-phosphate 3-epimerase isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (8) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AB075523, AI222711, BC005148, CN372165, CR992340, DC403549

UniProtKB/Swiss-Prot

Q96AT9

Conserved Domains (1) summary

cd00429
Location:6 → 188

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318926.2 → NP_001305855.1 ribulose-phosphate 3-epimerase isoform 6

Status: VALIDATED

Description

Transcript Variant: This variant (9) contains an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is longer compared to isoform 1. This variant encodes the longest isoform (6).

Source sequence(s)

AB075523, AI222711, BC005148, BX403091, DC403549

UniProtKB/TrEMBL

B3KTW7

Conserved Domains (1) summary

cd00429
Location:6 → 232

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318927.2 → NP_001305856.1 ribulose-phosphate 3-epimerase isoform 7

Status: VALIDATED

Description

Transcript Variant: This variant (10) contains an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AB075523, AI222711, BC005148, BX643719, DC403549

Consensus CDS

CCDS82567.1

UniProtKB/TrEMBL

C9IZU8

Related

ENSP00000400449.1, ENST00000452025.5

Conserved Domains (1) summary

cd00429
Location:6 → 193

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318928.2 → NP_001305857.1 ribulose-phosphate 3-epimerase isoform 8

Status: VALIDATED

Description

Transcript Variant: This variant (11) contains an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (8) contains an alternate internal segment and lacks another alternate internal segment compared to isoform 1.

Source sequence(s)

AB075523, AI222711, BC005148, DA592494, DC403549

UniProtKB/TrEMBL

B3KTW7

Conserved Domains (1) summary

cd00429
Location:6 → 197

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318929.2 → NP_001305858.1 ribulose-phosphate 3-epimerase isoform 9

Status: VALIDATED

Description

Transcript Variant: This variant (12) uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (9) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AB075523, AC007038, AI222711, BC005148, BG546879, DC403549

Consensus CDS

CCDS82568.1

UniProtKB/TrEMBL

C9J9T0

Related

ENSP00000411186.1, ENST00000435437.2

Conserved Domains (1) summary

cd00429
Location:6 → 188

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318930.2 → NP_001305859.1 ribulose-phosphate 3-epimerase isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (13) uses an alternate splice junction in the 5' end compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).

Source sequence(s)

AB075523, AI222711, BC005148, DA251418, DC403549

Consensus CDS

CCDS63108.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000386194.2, ENST00000408981.6

Conserved Domains (1) summary

cd00429
Location:1 → 146

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_001318931.2 → NP_001305860.1 ribulose-phosphate 3-epimerase isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (14) lacks an alternate exon and contains another alternate exon compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).

Source sequence(s)

AB075523, AI222711, BC005148, DA336224, DC403549

Consensus CDS

CCDS63108.1

UniProtKB/TrEMBL

C9J6A7

Conserved Domains (1) summary

cd00429
Location:1 → 146

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_006916.3 → NP_008847.1 ribulose-phosphate 3-epimerase isoform 2

See identical proteins and their annotated locations for NP_008847.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon and contains an alternate exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).

Source sequence(s)

AB075523, AI222711, AK056028, BC005148

Consensus CDS

CCDS42810.1

UniProtKB/TrEMBL

C9J6A7

Related

ENSP00000394455.1, ENST00000454822.5

Conserved Domains (1) summary

cd00429
Location:1 → 164

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
NM_199229.3 → NP_954699.1 ribulose-phosphate 3-epimerase isoform 1

See identical proteins and their annotated locations for NP_954699.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AB075523, AI222711, BC005148, DC403549

Consensus CDS

CCDS2388.1

UniProtKB/Swiss-Prot

A8K4S0, B4E016, C9JPQ7, O43767, Q53TV9, Q8N215, Q96AT9, Q96N34, Q9BSB5

Related

ENSP00000352401.6, ENST00000359429.11

Conserved Domains (1) summary

cd00429
Location:6 → 214

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

210002638..210022260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712677.5 → XP_006712740.1 ribulose-phosphate 3-epimerase isoform X1

See identical proteins and their annotated locations for XP_006712740.1

UniProtKB/TrEMBL

C9J6A7

Conserved Domains (1) summary

cd00429
Location:1 → 146

RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...
XM_047445381.1 → XP_047301337.1 ribulose-phosphate 3-epimerase isoform X1