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Aliases for RPE Gene

Aliases for RPE Gene

  • Ribulose-5-Phosphate-3-Epimerase 2 3 4 5
  • EC 5.1.3.1 4 56
  • Ribulose-Phosphate 3-Epimerase 3
  • RPE2-1 3

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 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Glycosaminoglycan metabolism and Pentose phosphate pathway. 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 for RPE Gene

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

Gene Wiki entry for RPE Gene

Additional gene information for RPE Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPE Gene

Genomics for RPE Gene

GeneHancer (GH) Regulatory Elements for RPE Gene

Promoters and enhancers for RPE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I210001 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.1 +0.9 886 3.8 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B RPE LOC101928020 KANSL1L MAP2 GC02M209962
GH02I210195 Enhancer 0.7 Ensembl 16 +192.8 192836 0.4 SCRT1 ELF3 CTCF ZNF654 NFIA TRIM22 REST RAD21 ZGPAT SCRT2 RPE KANSL1L ACADL ENSG00000279317
GH02I210189 Enhancer 0.5 ENCODE 11.1 +187.4 187407 0.1 GATAD2A CEBPA HNF4G ZNF384 HNF4A REST BCL6 RPE ENSG00000279317 ACADL
GH02I210007 Enhancer 0.7 FANTOM5 ENCODE 0.4 +5.6 5579 0.4 MEIS2 PKNOX1 FOS SPI1 KANSL1L RPE GC02M209962
GH02I209988 Enhancer 0.7 Ensembl 0.4 -14.3 -14264 0.2 HDAC1 MEIS2 TEAD4 TAL1 CCNT2 TCF12 GATA2 NCOR1 SIRT6 CBFA2T2 ACADL RPE GC02M209962 GC02M209861 UNC80
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPE gene promoter:

Genomic Locations for RPE Gene

Genomic Locations for RPE Gene
chr2:210,002,565-210,024,599
(GRCh38/hg38)
Size:
22,035 bases
Orientation:
Plus strand
chr2:210,867,289-210,886,300
(GRCh37/hg19)

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:
    Q96AT9-RPE_HUMAN
    Recommended name:
    Ribulose-phosphate 3-epimerase
    Protein Accession:
    Q96AT9
    Secondary Accessions:
    • A8K4S0
    • B4E016
    • C9JPQ7
    • O43767
    • Q53TV9
    • Q8N215
    • Q96N34
    • Q9BSB5

    Protein attributes for RPE Gene

    Size:
    228 amino acids
    Molecular mass:
    24928 Da
    Cofactor:
    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.
    SequenceCaution:
    • Sequence=BAB71076.1; Type=Frameshift; Positions=69; Evidence={ECO:0000305}; Sequence=BAC04212.1; Type=Frameshift; Positions=42; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RPE Gene

    Alternative splice isoforms for RPE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPE Gene

Selected DME Specific Peptides for RPE Gene

Q96AT9:
  • LVMTVEPG
  • MDGHFVPN
  • IEVDGGVGP

Post-translational modifications for RPE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RPE Gene

Gene Families for RPE Gene

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

Graphical View of Domain Structure for InterPro Entry

Q96AT9

UniProtKB/Swiss-Prot:

RPE_HUMAN :
  • Belongs to the ribulose-phosphate 3-epimerase family.
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

GENATLAS Biochemistry:
ribulose-5-phosphate-3-epimerase
UniProtKB/Swiss-Prot CatalyticActivity:
D-ribulose 5-phosphate = D-xylulose 5-phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.

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:0004750 ribulose-phosphate 3-epimerase activity IDA,EXP 20923965
GO:0016853 isomerase activity IEA --
GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives IEA --
GO:0042802 identical protein binding IPI 16189514
GO:0042803 protein homodimerization activity IPI 20923965
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

Clone Products

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

COMPARTMENTS
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
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for RPE Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RPE Gene

Pathways & Interactions for RPE Gene

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

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:0008152 metabolic process IEA --
GO:0009052 pentose-phosphate shunt, non-oxidative branch IBA --
GO:0019323 pentose catabolic process IBA --
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

(2) Drugs for RPE Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Angiotensin II Approved, Investigational Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1217

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
4151-19-3
Xylulose 5-phosphate
  • D-Xylulose 5-phosphate
  • D-Xylulose 5-PO4
  • D-Xylulose-5-P
  • D-Xylulose-5-phosphate
  • Xu-5-P
4212-65-1
genes like me logo Genes that share compounds with RPE: view

Transcripts for RPE Gene

Unigene Clusters for RPE Gene

Ribulose-5-phosphate-3-epimerase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for RPE Gene

GeneLoc Exon Structure for
RPE
ECgene alternative splicing isoforms for
RPE

Expression for RPE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RPE Gene



Protein tissue co-expression partners for RPE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPE Gene:

RPE

SOURCE GeneReport for Unigene cluster for RPE Gene:

Hs.282260

Evidence on tissue expression from TISSUES for RPE Gene

  • Skin(4.2)
  • Spleen(4.2)
  • Bone marrow(4.1)
  • Nervous system(4)
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
chimpanzee
(Pan troglodytes)
Mammalia RPE 33
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
RPE 33
  • 93.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPE 33 34
  • 95.32 (n)
mouse
(Mus musculus)
Mammalia Rpe 33 16 34
  • 91.96 (n)
rat
(Rattus norvegicus)
Mammalia Rpe 33
  • 91.46 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 91 (a)
OneToMany
RPE 33
  • 79.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rpe 33
  • 76.02 (n)
zebrafish
(Danio rerio)
Actinopterygii rpe 33 34
  • 72.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta boca 35
  • 62 (a)
CG30499 35 33 34
  • 60.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005080 33
  • 60.44 (n)
worm
(Caenorhabditis elegans)
Secernentea F08F8.7 35 33 34
  • 61.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E15071g 33
  • 58.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPE1 33 34 36
  • 58.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL208C 33
  • 53.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G63290 33
  • 57.59 (n)
rice
(Oryza sativa)
Liliopsida Os09g0505700 33
  • 57.16 (n)
Os.8665 33
corn
(Zea mays)
Liliopsida Zm.14811 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00519 33
  • 55.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC31G5.05c 33
  • 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 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

ENSEMBL:
Gene Tree for RPE (if available)
TreeFam:
Gene Tree for RPE (if available)

Paralogs for RPE Gene

Paralogs for RPE Gene

Pseudogenes.org Pseudogenes for RPE Gene

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

Variants for RPE Gene

Sequence variations from dbSNP and Humsavar for RPE Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000020421 -- 210,026,817(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000273422 -- 210,017,617(+) C/G intron_variant
rs1000278047 -- 210,018,577(+) A/G intron_variant
rs1000318665 -- 210,005,324(+) C/T intron_variant
rs1000452015 -- 210,001,169(+) A/C upstream_transcript_variant

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
RPE

SNP Genotyping and Copy Number Assay Products

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

(1) MalaCards diseases for RPE Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards
Search RPE in MalaCards View complete list of genes associated with diseases
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 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RPE Gene

Sources for RPE Gene

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