Aliases for RPEL1 Gene

Aliases for RPEL1 Gene

  • Ribulose-5-Phosphate-3-Epimerase Like 1 2 3 5
  • Ribulose-5-Phosphate-3-Epimerase-Like Protein 1 3 4
  • Ribulose-Phosphate 3-Epimerase-Like Protein 1 3 4
  • RcRPE Protein 3
  • HCG2024410 3
  • EC 5.1.3.1 4
  • RPEL1 5

External Ids for RPEL1 Gene

Previous GeneCards Identifiers for RPEL1 Gene

  • GC06P012780
  • GC06P012825
  • GC10P105006

Summaries for RPEL1 Gene

GeneCards Summary for RPEL1 Gene

RPEL1 (Ribulose-5-Phosphate-3-Epimerase Like 1) is a Protein Coding gene. Diseases associated with RPEL1 include Oliver-Mcfarlane Syndrome and Griscelli Syndrome, Type 2. Among its related pathways are Carbon metabolism and Pentose and glucuronate interconversions. Gene Ontology (GO) annotations related to this gene include racemase and epimerase activity, acting on carbohydrates and derivatives and ribulose-phosphate 3-epimerase activity. An important paralog of this gene is RPE.

UniProtKB/Swiss-Prot Summary for RPEL1 Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPEL1 Gene

Genomics for RPEL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RPEL1 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
GH10J103244 Enhancer 0.8 ENCODE 250.7 -1.0 -1038 0.2 ZNF654 MXD4 CTCF CEBPB REST TRIM22 HOMEZ THAP11 RXRA ZNF511 RF00017-711 RPEL1 INA RNU11-3P CNNM2 CYP17A1 MIR1307 ATP5MK PDCD11 AS3MT
GH10J103246 Promoter 0.3 Ensembl 250.7 +0.1 114 0.4 RPEL1 INA RNU11-3P CNNM2 CYP17A1 MIR1307 ATP5MK PDCD11 AS3MT PFN1P11
GH10J102641 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -598.2 -598174 12.7 BCLAF1 SP1 ZNF207 MYC NCOR1 ZNF600 SSRP1 JUND ZNF580 ZNF592 TRIM8 SFXN2 MFSD13A NOLC1 PDCD11 AS3MT PPRC1 TAF5 LDB1 ARL3
GH10J102418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -824.9 -824941 5.1 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 SIX5 ZNF580 ZNF592 KLF9 FBXL15 HSALNG0080290 PSD lnc-PSD-1 PPRC1 PDCD11 PCGF6 SFXN2 NOLC1 RPEL1
GH10J102761 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.5 -480.8 -480760 6.7 ZNF600 NCOR1 IKZF1 ZNF580 ZNF10 NFIC ZIC2 YY1 CEBPB FEZF1 NOLC1 SFXN2 WBP1L KCNIP2-AS1 RPEL1 AS3MT CYP17A1-AS1 CYP17A1 PFN1P11 PTGES3P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPEL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPEL1

Genomic Locations for RPEL1 Gene

Latest Assembly
chr10:103,245,887-103,248,016
(GRCh38/hg38)
Size:
2,130 bases
Orientation:
Plus strand

Previous Assembly
chr10:105,005,644-105,007,773
(GRCh37/hg19 by Entrez Gene)
Size:
2,130 bases
Orientation:
Plus strand

chr10:105,005,644-105,007,773
(GRCh37/hg19 by Ensembl)
Size:
2,130 bases
Orientation:
Plus strand

Genomic View for RPEL1 Gene

Genes around RPEL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPEL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPEL1 Gene

Proteins for RPEL1 Gene

  • Protein details for RPEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2QD12-RPEL1_HUMAN
    Recommended name:
    Ribulose-phosphate 3-epimerase-like protein 1
    Protein Accession:
    Q2QD12

    Protein attributes for RPEL1 Gene

    Size:
    228 amino acids
    Molecular mass:
    25023 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • According to some authors, RPEL1 is a RPE retrogene on chromosome 2 which is likely to be functional.

neXtProt entry for RPEL1 Gene

Post-translational modifications for RPEL1 Gene

No Post-translational modifications

Other Protein References for RPEL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPEL1 Gene

Domains & Families for RPEL1 Gene

Gene Families for RPEL1 Gene

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

Protein Domains for RPEL1 Gene

InterPro:
Blocks:
  • Ribulose-phosphate 3-epimerase

Suggested Antigen Peptide Sequences for RPEL1 Gene

GenScript: Design optimal peptide antigens:
  • Ribulose-phosphate 3-epimerase (Q2QD12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2QD12

UniProtKB/Swiss-Prot:

RPEL1_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 RPEL1: view

Function for RPEL1 Gene

Molecular function for RPEL1 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=5.1.3.1; Evidence={ECO:0000250|UniProtKB:Q96AT9};.

Enzyme Numbers (IUBMB) for RPEL1 Gene

Phenotypes From GWAS Catalog for RPEL1 Gene

Gene Ontology (GO) - Molecular Function for RPEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004750 ribulose-phosphate 3-epimerase activity IBA 21873635
GO:0016853 isomerase activity IEA --
GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives IEA --
GO:0046872 metal ion binding IBA 21873635
genes like me logo Genes that share ontologies with RPEL1: view
genes like me logo Genes that share phenotypes with RPEL1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPEL1

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RPEL1 Gene

Localization for RPEL1 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 RPEL1 gene
Compartment Confidence
cytosol 3
peroxisome 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 RPEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPEL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPEL1 Gene

Pathways & Interactions for RPEL1 Gene

genes like me logo Genes that share pathways with RPEL1: view

UniProtKB/Swiss-Prot Q2QD12-RPEL1_HUMAN

  • Pathway: Carbohydrate degradation.

Interacting Proteins for RPEL1 Gene

Gene Ontology (GO) - Biological Process for RPEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
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 RPEL1: view

No data available for SIGNOR curated interactions for RPEL1 Gene

Drugs & Compounds for RPEL1 Gene

No Compound Related Data Available

Transcripts for RPEL1 Gene

mRNA/cDNA for RPEL1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 RPEL1

Alternative Splicing Database (ASD) splice patterns (SP) for RPEL1 Gene

No ASD Table

Relevant External Links for RPEL1 Gene

GeneLoc Exon Structure for
RPEL1

Expression for RPEL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPEL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPEL1

Evidence on tissue expression from TISSUES for RPEL1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with RPEL1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPEL1 Gene

Orthologs for RPEL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RPEL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RPEL1 30
  • 99 (a)
OneToOne
LOC450708 29
  • 98.98 (n)
Cow
(Bos Taurus)
Mammalia RPE 30
  • 95 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 94 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 94 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rpe 30
  • 93 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 93 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 87 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 89 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii rpe 30
  • 79 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30499 30
  • 58 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F08F8.7 30
  • 56 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPE1 30
  • 51 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 61 (a)
OneToMany
Species where no ortholog for RPEL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RPEL1 Gene

ENSEMBL:
Gene Tree for RPEL1 (if available)
TreeFam:
Gene Tree for RPEL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPEL1: view image
Alliance of Genome Resources:
Additional Orthologs for RPEL1

Paralogs for RPEL1 Gene

Paralogs for RPEL1 Gene

(1) SIMAP similar genes for RPEL1 Gene using alignment to 1 proteins:

  • RPEL1_HUMAN

Pseudogenes.org Pseudogenes for RPEL1 Gene

genes like me logo Genes that share paralogs with RPEL1: view

Variants for RPEL1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RPEL1 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for RPEL1 Gene

Variant ID Type Subtype PubMed ID
esv3624406 CNV gain 21293372
esv3624408 CNV gain 21293372
nsv509365 CNV insertion 20534489
nsv948175 CNV duplication 23825009

Variation tolerance for RPEL1 Gene

Gene Damage Index Score: 1.87; 34.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPEL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPEL1
Leiden Open Variation Database (LOVD)
RPEL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPEL1 Gene

Disorders for RPEL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RPEL1 Gene - From: COP

Disorder Aliases PubMed IDs
oliver-mcfarlane syndrome
  • omcs
griscelli syndrome, type 2
  • gs2
- elite association - COSMIC cancer census association via MalaCards
Search RPEL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RPEL1

genes like me logo Genes that share disorders with RPEL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPEL1 Gene

Publications for RPEL1 Gene

  1. Emergence of young human genes after a burst of retroposition in primates. (PMID: 16201836) Marques AC … Kaessmann H (PLoS biology 2005) 2 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 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) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for RPEL1 Gene

Sources for RPEL1 Gene