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Aliases for RBKS Gene

Aliases for RBKS Gene

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

External Ids for RBKS Gene

Previous GeneCards Identifiers for RBKS Gene

  • GC02M027978
  • GC02M027915
  • GC02M027857
  • GC02M028004

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. Among its related pathways are Pentose phosphate pathway. GO annotations related to this gene include ribokinase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RBKS Gene

Genomics for RBKS Gene

Regulatory Elements for RBKS Gene

Enhancers for RBKS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027953 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -66.1 -66135 8.5 PKNOX1 MLX SIN3A YY1 GATA2 FOS REST PPARG SSRP1 PBX2 FOSL2 RBKS FLJ31356 FNDC4 C2orf16 CGREF1 LINC01460 BABAM2 GCKR LOC100422227
GH02G028358 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -469.3 -469257 4.0 HDGF FOXA2 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A ZNF2 ZNF766 FOSL2 LOC100505716 GPN1 FLJ31356 WDR43 CCDC121 RBKS NRBP1 TRMT61B PPP1CB
GH02G027919 1.5 FANTOM5 Ensembl ENCODE 11 -30.3 -30266 3.4 ELF3 KLF1 ZBTB21 JUN SIN3A CEBPG ZBTB40 RAD21 KLF7 PRDM10 FOSL2 RBKS SNX17 FNDC4 BABAM2 LOC100420770 LOC105374369
GH02G028273 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.6 -384.6 -384550 3.9 PKNOX1 ATF1 TCF12 GLIS2 GATA2 FOS JUNB TSHZ1 ZNF518A MAFF FOSL2 LOC100505716 RBKS LOC100505774 PPP1CB RPL23AP34 LOC100505736
GH02G027719 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +170.4 170351 2.5 SIN3A GLI4 BRCA1 ZNF2 GATA2 ZNF416 FOS SP3 TSHZ1 ZNF623 ZNF512 CAD GPN1 GTF3C2 ENSG00000272148 AGBL5-IT1 SNX17 ENSG00000272056 LOC105374363 RBKS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBKS on UCSC Golden Path with GeneCards custom track

Promoters for RBKS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114497 -204 2001 CREB3L1 DMAP1 YBX1 YY1 SP3 TBX21 PPARGC1A MEF2D GLIS1 RCOR2

Genomic Location for RBKS Gene

Chromosome:
2
Start:
27,781,364 bp from pter
End:
27,891,098 bp from pter
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

No data available for DME Specific Peptides for RBKS Gene

Domains & Families for RBKS Gene

Suggested Antigen Peptide Sequences for RBKS Gene

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

No data available for Gene Families for RBKS Gene

Function for RBKS Gene

Molecular function for RBKS Gene

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 CatalyticActivity:
ATP + D-ribose = ADP + D-ribose 5-phosphate.
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).
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.

Enzyme Numbers (IUBMB) for RBKS Gene

Gene Ontology (GO) - Molecular Function for RBKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004747 ribokinase activity TAS,IEA --
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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 Model Products

  • Taconic Biosciences Mouse Models for RBKS

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RBKS

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , 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
extracellular 5
plasma membrane 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for RBKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with RBKS: view

Pathways & Interactions for RBKS Gene

SuperPathway Contained pathways
1 Pentose phosphate pathway
genes like me logo Genes that share pathways with RBKS: view

Pathways by source for RBKS Gene

1 KEGG pathway 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

(5) Drugs for RBKS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
deoxyribose
  • 2'-Deoxy-D-ribose
533-67-5
Deoxyribose 1-phosphate
  • 2-Deoxy-alpha-D-ribose 1-phosphate
  • 2-Deoxy-alpha-delta-ribose 1-phosphate
  • 2-Deoxy-D-erythro-pentofuranose 1-phosphate
  • 2-Deoxy-D-ribose 1-phosphate
  • 2-Deoxy-D-ribose-1-phosphate
17210-42-3
Deoxyribose 5-monophosphate
Deoxyribose 5-phosphate
  • 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
  • 2-Deoxyribose 5-phosphate
102916-66-5
genes like me logo Genes that share compounds with RBKS: view

Transcripts for RBKS Gene

Unigene Clusters for RBKS Gene

Ribokinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RBKS

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
RBKS

Expression for RBKS Gene

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



Protein tissue co-expression partners for RBKS Gene

NURSA nuclear receptor signaling pathways regulating expression of RBKS Gene:

RBKS

SOURCE GeneReport for Unigene cluster for RBKS Gene:

Hs.11916

Evidence on tissue expression from TISSUES for RBKS Gene

  • Intestine(4.2)
  • Lung(4.1)
  • Kidney(2.2)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with RBKS: view

Primer Products

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 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia RBKS 34 35
  • 89.54 (n)
dog
(Canis familiaris)
Mammalia RBKS 34 35
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Rbks 34 16 35
  • 85.82 (n)
rat
(Rattus norvegicus)
Mammalia Rbks 34
  • 85.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBKS 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBKS 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBKS 34 35
  • 74.64 (n)
lizard
(Anolis carolinensis)
Reptilia RBKS 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbks 34
  • 68.88 (n)
zebrafish
(Danio rerio)
Actinopterygii rbks 34 35
  • 65.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13369 34 35
  • 51.4 (n)
CG17010 35
  • 25 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002608 34
  • 48.46 (n)
worm
(Caenorhabditis elegans)
Secernentea F07A11.5 34 35
  • 51.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RBK1 34 35 37
  • 46.64 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03498g 34
  • 45.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G17160 34
  • 41.15 (n)
rice
(Oryza sativa)
Liliopsida Os01g0665400 34
  • 40.72 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04339 34
  • 46.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16G5.02c 34
  • 45.92 (n)
Species where no ortholog for RBKS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for RBKS Gene

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

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

No data available for Paralogs for RBKS Gene

Variants for RBKS Gene

Sequence variations from dbSNP and Humsavar for RBKS Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000005908 -- 27,855,259(+) TGAAG(A/G)ATAGT intron-variant
rs1000021092 -- 27,834,215(+) CTAGT(C/T)TACTT intron-variant
rs1000021341 -- 27,783,714(+) CATCC(C/T)GGCTA intron-variant
rs1000070815 -- 27,831,821(+) GAGGT(A/G)GGAGG intron-variant
rs1000119720 -- 27,812,425(+) TGTGG(C/T)ACTAT intron-variant

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)

Relevant External Links for RBKS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBKS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBKS Gene

Disorders for RBKS Gene

Relevant External Links for RBKS

Genetic Association Database (GAD)
RBKS
Human Genome Epidemiology (HuGE) Navigator
RBKS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBKS

No disorders were found for RBKS Gene.

No data available for MalaCards , 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 R.S. (FEBS Lett. 2007) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Sci. 1993) 2 3 64
  5. Role of monovalent and divalent metal cations in human ribokinase catalysis and regulation. (PMID: 25749547) Quiroga-Roger D. … GuixAc V. (Biometals 2015) 3 64

Products for RBKS Gene

Sources for RBKS Gene

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