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    RBKS ribokinase [ Homo sapiens (human) ]

    Gene ID: 64080, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBKSprovided by HGNC
    Official Full Name
    ribokinaseprovided by HGNC
    Primary source
    HGNC:HGNC:30325
    See related
    Ensembl:ENSG00000171174 MIM:611132; AllianceGenome:HGNC:30325
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RK; RBSK
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 7.1), small intestine (RPKM 6.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBKS in Genome Data Viewer
    Location:
    2p23.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27781379..27890387, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27824533..27933507, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (28004246..28113254, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27939404-27939917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27938889-27939403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11305 Neighboring gene MPRA-validated peak3633 silencer Neighboring gene MPRA-validated peak3634 silencer Neighboring gene MPRA-validated peak3635 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27975487-27976105 Neighboring gene MPRA-validated peak3636 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27994581-27995397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15512 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:28021515-28022714 Neighboring gene mitochondrial ribosomal protein L33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11306 Neighboring gene BABAM2 antisense RNA 1 Neighboring gene MPRA-validated peak3637 silencer Neighboring gene uncharacterized LOC105374369 Neighboring gene BRISC and BRCA1 A complex member 2 Neighboring gene MYG1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role of monovalent and divalent metal cations in human ribokinase catalysis and regulation. Quiroga-Roger D, et al. Biometals, 2015 Apr. PMID 25749547
    2. Identification and characterization of human ribokinase and comparison of its properties with E. coli ribokinase and human adenosine kinase. Park J, et al. FEBS Lett, 2007 Jul 10. PMID 17585908
    3. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
    4. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    5. Convergent evolution of similar enzymatic function on different protein folds: the hexokinase, ribokinase, and galactokinase families of sugar kinases. Bork P, et al. Protein Sci, 1993 Jan. PMID 8382990, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Asn199 and Glu202 play an important role in the regulation of human ribokinase activity.
      Title: Role of monovalent and divalent metal cations in human ribokinase catalysis and regulation.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Identification and characterization of human ribokinase.
      Title: Identification and characterization of human ribokinase and comparison of its properties with E. coli ribokinase and human adenosine kinase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • 5230400M11Rik, DKFZp686G13268

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribokinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in D-ribose catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribokinase
    NP_001274509.1
    NP_071411.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001287580.2 → NP_001274509.1  ribokinase isoform 2

      See identical proteins and their annotated locations for NP_001274509.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021171, AJ404857, BC017425, BF436282, BX648909
      UniProtKB/Swiss-Prot
      Q9H477
      Conserved Domains (1) summary
      cl00192
      Location:1 → 251
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...

    2. NM_022128.3 → NP_071411.1  ribokinase isoform 1

      See identical proteins and their annotated locations for NP_071411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AJ404857, BC017425, BF436282
      Consensus CDS
      CCDS1762.1
      UniProtKB/Swiss-Prot
      A9UK04, B4DV96, Q9H477
      Related
      ENSP00000306817.3, ENST00000302188.8
      Conserved Domains (1) summary
      TIGR02152
      Location:22 → 318
      D_ribokin_bact; ribokinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27781379..27890387 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27824533..27933507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H477.1 GenPept UniProtKB/Swiss-Prot:Q9H477

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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