Aliases for RPE Gene

Aliases for RPE Gene

  • Ribulose-5-Phosphate-3-Epimerase 2 3 4 5
  • Ribulose-Phosphate 3-Epimerase 3 4
  • EC 4 50
  • RPE2-1 3
  • RPE 5

External Ids for RPE Gene

Previous GeneCards Identifiers for RPE Gene

  • GC02P209142
  • GC02P209591
  • GC02P210831
  • GC02P211069
  • GC02P210692
  • GC02P210575
  • GC02P202712
  • GC02P210867

Summaries for RPE Gene

GeneCards Summary for RPE Gene

RPE (Ribulose-5-Phosphate-3-Epimerase) is a Protein Coding gene. Diseases associated with RPE include Dracunculiasis and Ceroid Lipofuscinosis, Neuronal, 6. Among its related pathways are Pentose phosphate pathway and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and racemase and epimerase activity, acting on carbohydrates and derivatives. An important paralog of this gene is RPEL1.

UniProtKB/Swiss-Prot Summary for RPE Gene

  • Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.

Gene Wiki entry for RPE Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPE Gene

Genomics for RPE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RPE Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J210001 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 256 +0.9 915 3.8 SP1 MYC ZNF580 KLF9 POLR2A ZBTB10 YY1 MXD4 CTCF CEBPB RPE KANSL1L-AS1 KANSL1L MAP2 HSALNG0021947
GH02J210189 Enhancer 0.7 Ensembl ENCODE 11.1 +187.3 187349 0.2 CEBPA YY1 BCL6 HNF4A REST SP1 ZNF384 GATAD2A HNF4G RPE piR-38580-175 ENSG00000279317 KANSL1L lnc-KANSL1L-1 ACADL
GH02J210301 Promoter/Enhancer 1 EPDnew Ensembl ENCODE dbSUPER 4.9 +300.3 300294 1.9 MYL1 KANSL1L RPE ENSG00000199203 ACADL
GH02J210190 Enhancer 0.4 Ensembl 11.1 +186.2 186236 0.4 GATA3 GATA2 ZNF24 piR-38580-175 RPE ENSG00000279317 KANSL1L lnc-KANSL1L-1 ACADL
GH02J210181 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 4.4 +178.6 178583 2.7 THAP11 FOXA2 DMAP1 FOXA1 ZNF48 PKNOX1 EGR2 GATAD2A SP5 NFKBIZ lnc-RPE-8 RPE MAP2 KANSL1L ENSG00000279317 piR-38580-175 ACADL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPE

Top Transcription factor binding sites by QIAGEN in the RPE gene promoter:
  • AP-1
  • ATF-2
  • Sp1

Genomic Locations for RPE Gene

Latest Assembly
20,799 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
19,623 bases
Plus strand

(GRCh37/hg19 by Ensembl)
19,012 bases
Plus strand

Genomic View for RPE Gene

Genes around RPE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPE Gene

Proteins for RPE Gene

  • Protein details for RPE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribulose-phosphate 3-epimerase
    Protein Accession:
    Secondary Accessions:
    • A8K4S0
    • B4E016
    • C9JPQ7
    • O43767
    • Q53TV9
    • Q8N215
    • Q96N34
    • Q9BSB5

    Protein attributes for RPE Gene

    228 amino acids
    Molecular mass:
    24928 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Homodimer.
    • Sequence=BAB71076.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC04212.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RPE Gene

    Alternative splice isoforms for RPE Gene


neXtProt entry for RPE Gene

Selected DME Specific Peptides for RPE Gene


Post-translational modifications for RPE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for RPE
  • Boster Bio Antibodies for RPE
  • Santa Cruz Biotechnology (SCBT) Antibodies for RPE

Domains & Families for RPE Gene

Gene Families for RPE Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RPE Gene

  • Ribulose-phosphate 3-epimerase

Suggested Antigen Peptide Sequences for RPE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52962, highly similar to Ribulose-phosphate 3-epimerase (EC (B4E016_HUMAN)
  • Ribulose-phosphate 3-epimerase (C9IZU8_HUMAN)
  • Ribulose-phosphate 3-epimerase (E7EW52_HUMAN)
  • Ribulose-5-phosphate-3-epimerase (RPE_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribulose-phosphate 3-epimerase family.
  • Belongs to the ribulose-phosphate 3-epimerase family.
genes like me logo Genes that share domains with RPE: view

Function for RPE Gene

Molecular function for RPE Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-ribulose 5-phosphate = D-xylulose 5-phosphate; Xref=Rhea:RHEA:13677, ChEBI:CHEBI:57737, ChEBI:CHEBI:58121; EC=; Evidence={ECO:0000269|PubMed:20923965};.
GENATLAS Biochemistry:

Enzyme Numbers (IUBMB) for RPE Gene

Phenotypes From GWAS Catalog for RPE Gene

Gene Ontology (GO) - Molecular Function for RPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004750 ribulose-phosphate 3-epimerase activity IBA,IDA 20923965
GO:0005515 protein binding IPI 32296183
GO:0016853 isomerase activity IEA --
GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives IEA --
genes like me logo Genes that share ontologies with RPE: view
genes like me logo Genes that share phenotypes with RPE: view

miRNA for RPE Gene

miRTarBase miRNAs that target RPE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPE

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPE Gene

Localization for RPE Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPE gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with RPE: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPE Gene

Pathways & Interactions for RPE Gene

genes like me logo Genes that share pathways with RPE: view

UniProtKB/Swiss-Prot Q96AT9-RPE_HUMAN

  • Pathway: Carbohydrate degradation.

Gene Ontology (GO) - Biological Process for RPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA 20923965
GO:0006098 pentose-phosphate shunt TAS --
GO:0009052 pentose-phosphate shunt, non-oxidative branch IBA 21873635
GO:0019323 pentose catabolic process IBA 21873635
GO:0044262 cellular carbohydrate metabolic process IBA 21873635
genes like me logo Genes that share ontologies with RPE: view

No data available for SIGNOR curated interactions for RPE Gene

Drugs & Compounds for RPE Gene

(9) Drugs for RPE Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ergocalciferol Approved Nutra Enzyme, substrate 434
Huperzine A Approved, Experimental Pharma 15
Angiotensin II Approved, Investigational Pharma Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1412
Cholinergic Agents Pharma 3956
Cholinesterase Inhibitors Pharma 703

(6) Additional Compounds for RPE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribulose 5-phosphate
  • D-Erythro-pent-2-ulose 5-(dihydrogen phosphate)
  • D-Erythro-pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
  • Ribulose 5-phosphate
  • Ribulose 5-phosphate, (D)-isomer
Xylulose 5-phosphate
  • 5-O-Phosphono-D-threo-pentos-2-ulose
  • 5-O-Phosphono-D-xylulose
  • D-Xylulose-5-phosphate
  • D-Xylulose-5-phosphoric acid
  • Xylulose 5-phosphoric acid
genes like me logo Genes that share compounds with RPE: view

Transcripts for RPE Gene

mRNA/cDNA for RPE Gene

26 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPE

Alternative Splicing Database (ASD) splice patterns (SP) for RPE Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP4: -

Relevant External Links for RPE Gene

GeneLoc Exon Structure for

Expression for RPE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPE Gene

Protein tissue co-expression partners for RPE Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPE

SOURCE GeneReport for Unigene cluster for RPE Gene:


Evidence on tissue expression from TISSUES for RPE Gene

  • Skin(4.5)
  • Spleen(4.3)
  • Nervous system(4.2)
  • Bone marrow(4.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with RPE: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPE Gene

Orthologs for RPE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RPE 29
  • 99.71 (n)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 98 (a)
(Canis familiaris)
Mammalia -- 30
  • 98 (a)
RPE 29
  • 93.86 (n)
(Monodelphis domestica)
Mammalia -- 30
  • 97 (a)
(Bos Taurus)
Mammalia RPE 29 30
  • 95.32 (n)
(Mus musculus)
Mammalia Rpe 29 16 30
  • 91.96 (n)
(Rattus norvegicus)
Mammalia Rpe 29
  • 91.46 (n)
(Gallus gallus)
Aves -- 30
  • 91 (a)
RPE 29
  • 79.79 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 93 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rpe 29
  • 76.02 (n)
(Danio rerio)
Actinopterygii rpe 29 30
  • 72.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta boca 31
  • 62 (a)
CG30499 29 30 31
  • 60.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005080 29
  • 60.44 (n)
(Caenorhabditis elegans)
Secernentea F08F8.7 29 30 31
  • 61.6 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E15071g 29
  • 58.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPE1 29 30 32
  • 58.03 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL208C 29
  • 53.79 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G63290 29
  • 57.59 (n)
(Oryza sativa)
Liliopsida Os09g0505700 29
  • 57.16 (n)
Os.8665 29
(Zea mays)
Liliopsida Zm.14811 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00519 29
  • 55.25 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC31G5.05c 29
  • 55.1 (n)
Species where no ortholog for RPE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RPE Gene

Gene Tree for RPE (if available)
Gene Tree for RPE (if available)
Evolutionary constrained regions (ECRs) for RPE: view image
Alliance of Genome Resources:
Additional Orthologs for RPE

Paralogs for RPE Gene

Paralogs for RPE Gene

(9) SIMAP similar genes for RPE Gene using alignment to 13 proteins:

  • B4E016_HUMAN
  • C9J6A7_HUMAN
  • C9J8S0_HUMAN
  • C9J9T0_HUMAN
  • E7EW52_HUMAN
  • F8WBT4_HUMAN Pseudogenes for RPE Gene

genes like me logo Genes that share paralogs with RPE: view

Variants for RPE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPE Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs117674897 Benign: not provided 210,023,010(+) T/C
NM_152519.4(KANSL1L):c.2903A>G (p.Asp968Gly)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RPE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for RPE Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RPE Gene

Disorders for RPE Gene

MalaCards: The human disease database

(4) MalaCards diseases for RPE Gene - From: COP

Disorder Aliases PubMed IDs
  • dracontiasis
ceroid lipofuscinosis, neuronal, 6
  • cln6
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
sveinsson chorioretinal atrophy
  • scra
- elite association - COSMIC cancer census association via MalaCards
Search RPE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RPE

genes like me logo Genes that share disorders with RPE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPE Gene

Publications for RPE Gene

  1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 3 4 22
  2. Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new insights from structural and biochemical studies on human RPE. (PMID: 20923965) Liang W … Liu ZJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RPE Gene

Sources for RPE Gene