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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
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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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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

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