This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] See more...

Aliases for RBKS Gene

Aliases for RBKS Gene

  • Ribokinase 2 3 4 5
  • RBSK 2 3 4
  • RK 3 4
  • DKFZp686G13268 2
  • EC 2.7.1.15 4
  • RBKS 5

External Ids for RBKS Gene

Previous GeneCards Identifiers for RBKS Gene

  • GC02M027978
  • GC02M027915
  • GC02M027857
  • GC02M028004
  • GC02M027745

Summaries for RBKS Gene

Entrez Gene Summary for RBKS Gene

  • This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for RBKS Gene

RBKS (Ribokinase) is a Protein Coding gene. Diseases associated with RBKS include Roberts-Sc Phocomelia Syndrome and Cyclosporiasis. Among its related pathways are Pentose phosphate pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include ribokinase activity. An important paralog of this gene is ADK.

UniProtKB/Swiss-Prot Summary for RBKS Gene

  • Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.

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

Genomics for RBKS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RBKS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the RBKS gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for RBKS Gene

Latest Assembly
chr2:27,781,379-27,890,681
(GRCh38/hg38)
Size:
109,303 bases
Orientation:
Minus strand

Previous Assembly
chr2:28,004,246-28,113,254
(GRCh37/hg19 by Entrez Gene)
Size:
109,009 bases
Orientation:
Minus strand

chr2:28,004,231-28,113,965
(GRCh37/hg19 by Ensembl)
Size:
109,735 bases
Orientation:
Minus strand

Genomic View for RBKS Gene

Genes around RBKS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RBKS Gene

Proteins for RBKS Gene

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

    Protein Symbol:
    Q9H477-RBSK_HUMAN
    Recommended name:
    Ribokinase
    Protein Accession:
    Q9H477
    Secondary Accessions:
    • A9UK04
    • B4DV96

    Protein attributes for RBKS Gene

    Size:
    322 amino acids
    Molecular mass:
    34143 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for RBKS Gene

    Alternative splice isoforms for RBKS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBKS Gene

Post-translational modifications for RBKS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBKS Gene

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for RBKS

No data available for DME Specific Peptides for RBKS Gene

Domains & Families for RBKS Gene

Gene Families for RBKS Gene

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

Protein Domains for RBKS Gene

InterPro:
Blocks:
  • Ribokinase signature
  • Carbohydrate kinase, PfkB

Suggested Antigen Peptide Sequences for RBKS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60169, highly similar to Ribokinase (EC 2.7.1.15) (B4DV96_HUMAN)
  • Ribokinase (RBSK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H477

UniProtKB/Swiss-Prot:

RBSK_HUMAN :
  • Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily.
Family:
  • Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily.
genes like me logo Genes that share domains with RBKS: view

Function for RBKS Gene

Molecular function for RBKS Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-ribose = ADP + D-ribose 5-phosphate + H(+); Xref=Rhea:RHEA:13697, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:47013, ChEBI:CHEBI:78346, ChEBI:CHEBI:456216; EC=2.7.1.15; Evidence={ECO:0000255|HAMAP-Rule:MF_03215, ECO:0000269|PubMed:17585908};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.17 mM for ribose (in the presence of 10 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=3.39 mM for ribose (in the presence of 5 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=6.62 mM for ribose (in the presence of 2 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=30.43 mM for ribose (in the presence of 1 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=0.07 mM for ATP (in the presence of 5 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=0.08 mM for ATP (in the presence of 2 mM inorganic phosphate) {ECO:0000269|PubMed:17585908}; KM=0.10 mM for ATP (in the presence of 1 mM inorganic phosphate) {ECO:0000269|PubMed:17585908};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by a monovalent cation that binds near, but not in, the active site. The most likely occupant of the site in vivo is potassium. Ion binding induces a conformational change that may alter substrate affinity (By similarity). Competitively inhibited by phosphonoacetic acid, etidronate, 2-carboxethylphosphonic acid, N-(phosphonomethyl)glycine, N-(phosphonomethyl)iminodiacetic acid and clodronate (PubMed:17585908).

Enzyme Numbers (IUBMB) for RBKS Gene

Phenotypes From GWAS Catalog for RBKS Gene

Gene Ontology (GO) - Molecular Function for RBKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004747 ribokinase activity TAS --
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with RBKS: view
genes like me logo Genes that share phenotypes with RBKS: view

Animal Models for RBKS Gene

MGI Knock Outs for RBKS:
  • Rbks Rbks<tm1d(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for RBKS

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RBKS Gene

Localization for RBKS Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBKS Gene

Cytoplasm. Nucleus.

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 RBKS gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
extracellular 1
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)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RBKS: view

Pathways & Interactions for RBKS Gene

PathCards logo

SuperPathways for RBKS Gene

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

Pathways by source for RBKS Gene

2 KEGG pathways for RBKS Gene

UniProtKB/Swiss-Prot Q9H477-RBSK_HUMAN

  • Pathway: Carbohydrate metabolism; D-ribose degradation; D-ribose 5-phosphate from beta-D-ribopyranose: step 2/2.

Gene Ontology (GO) - Biological Process for RBKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006014 D-ribose metabolic process IEA --
GO:0006098 pentose-phosphate shunt TAS --
GO:0016310 phosphorylation IEA --
GO:0019303 D-ribose catabolic process IEA --
genes like me logo Genes that share ontologies with RBKS: view

No data available for SIGNOR curated interactions for RBKS Gene

Drugs & Compounds for RBKS Gene

(7) Drugs for RBKS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
alpha-D-arabinofuranose Experimental, Investigational Pharma Target 0
Tetrafluoroaluminate Ion Experimental Pharma Target 0
ATP Investigational Nutra 0

(8) Additional Compounds for RBKS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
deoxyribose
  • 2'-Deoxy-D-ribose
533-67-5
Deoxyribose 1-phosphate
  • 2-Deoxy-1-O-phosphono-D-erythro-pentofuranose
  • 2-Deoxy-1-O-phosphono-D-ribofuranose
  • 2-Deoxy-D-ribose 1-phosphate
  • 2-Deoxy-D-ribose 1-phosphoric acid
  • Deoxyribose 1-phosphoric acid
17210-42-3
Deoxyribose 5-monophosphate
  • Deoxyribose 5-monophosphoric acid
  • {[(2R,3S,5S)-3,5-dihydroxyoxolan-2-yl]methoxy}phosphonate
Deoxyribose 5-phosphate
  • Deoxyribose 5-phosphoric acid
  • 2-Deoxy-alpha-D-ribose 5-phosphate
  • 2-Deoxy-alpha-delta-ribose 5-phosphate
  • 2-Deoxy-D-ribose 5-phosphate
  • 2-Deoxy-D-ribose-5-phosphate
102916-66-5
genes like me logo Genes that share compounds with RBKS: view

Transcripts for RBKS Gene

mRNA/cDNA for RBKS Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 RBKS

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for RBKS Gene

GeneLoc Exon Structure for
RBKS

Expression for RBKS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBKS Gene

This gene is overexpressed in Liver (x8.0) and Adrenal Gland (x7.0).

Protein differential expression in normal tissues from HIPED for RBKS Gene

This gene is overexpressed in Retina (8.9), Liver (8.6), and Liver, secretome (6.6).

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



Protein tissue co-expression partners for RBKS Gene

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

SOURCE GeneReport for Unigene cluster for RBKS Gene:

Hs.11916

Evidence on tissue expression from TISSUES for RBKS Gene

  • Intestine(4.4)
  • Lung(4.1)
  • Liver(2.7)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with RBKS: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBKS Gene

Orthologs for RBKS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBKS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RBKS 29 30
  • 99.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RBKS 29 30
  • 89.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RBKS 29 30
  • 89.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rbks 29 16 30
  • 85.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbks 29
  • 85.2 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RBKS 30
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RBKS 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RBKS 29 30
  • 74.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RBKS 30
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rbks 29
  • 68.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii rbks 29 30
  • 65.56 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG13369 29 30
  • 51.4 (n)
OneToMany
CG17010 30
  • 25 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002608 29
  • 48.46 (n)
Worm
(Caenorhabditis elegans)
Secernentea F07A11.5 29 30
  • 51.03 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RBK1 29 30 32
  • 46.64 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03498g 29
  • 45.49 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G17160 29
  • 41.15 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0665400 29
  • 40.72 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04339 29
  • 46.84 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16G5.02c 29
  • 45.92 (n)
Species where no ortholog for RBKS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Corn (Zea mays)
  • 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 Squirt (Ciona savignyi)
  • 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 RBKS Gene

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

Paralogs for RBKS Gene

Paralogs for RBKS Gene

(1) SIMAP similar genes for RBKS Gene using alignment to 5 proteins:

  • RBSK_HUMAN
  • B4DV96_HUMAN
  • E7EQ18_HUMAN
  • E9PBU0_HUMAN
  • H7C091_HUMAN
genes like me logo Genes that share paralogs with RBKS: view

Variants for RBKS Gene

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

Variant ID Type Subtype PubMed ID
esv2675195 CNV deletion 23128226
esv2759034 CNV gain 17122850
esv3329429 CNV insertion 20981092
esv3335215 CNV insertion 20981092
esv3590146 CNV loss 21293372
nsv1117236 CNV tandem duplication 24896259
nsv507004 OTHER sequence alteration 20534489

Variation tolerance for RBKS Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBKS Gene

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

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 RBKS Gene

Disorders for RBKS Gene

MalaCards: The human disease database

(3) MalaCards diseases for RBKS Gene - From: COP

Disorder Aliases PubMed IDs
roberts-sc phocomelia syndrome
  • rbs
cyclosporiasis
  • cyclospora infection
nemaline myopathy 5
  • nem5
- elite association - COSMIC cancer census association via MalaCards
Search RBKS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBKS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RBKS: view

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

Publications for RBKS Gene

  1. Identification and characterization of human ribokinase and comparison of its properties with E. coli ribokinase and human adenosine kinase. (PMID: 17585908) Park J … Gupta RS (FEBS letters 2007) 3 4 22
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. 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
  4. Convergent evolution of similar enzymatic function on different protein folds: the hexokinase, ribokinase, and galactokinase families of sugar kinases. (PMID: 8382990) Bork P … Valencia A (Protein science : a publication of the Protein Society 1993) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RBKS Gene

Sources for RBKS Gene