Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009] See more...

Aliases for RFK Gene

Aliases for RFK Gene

  • Riboflavin Kinase 2 3 4 5
  • ATP:Riboflavin 5'-Phosphotransferase 3 4
  • Flavokinase 3 4
  • RIFK 2 3
  • 0610038L10Rik 3
  • EC 2.7.1.26 4
  • FLJ11149 2
  • RFK 5

External Ids for RFK Gene

Previous GeneCards Identifiers for RFK Gene

  • GC09M074458
  • GC09M076230
  • GC09M078190
  • GC09M079000
  • GC09M048829

Summaries for RFK Gene

Entrez Gene Summary for RFK Gene

  • Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]

GeneCards Summary for RFK Gene

RFK (Riboflavin Kinase) is a Protein Coding gene. Diseases associated with RFK include Riboflavin Deficiency and Brown-Vialetto-Van Laere Syndrome. Among its related pathways are Folate Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include riboflavin kinase activity.

UniProtKB/Swiss-Prot Summary for RFK Gene

  • Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase.

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

Genomics for RFK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RFK 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
GH09J076392 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.7 +0.3 322 4 SP1 CREB1 GATAD2A REST ZNF512 RFX1 IKZF1 KDM1A CTCF POLR2A RFK lnc-RFK-1 lnc-GCNT1-7 GCNT1 lnc-RFK-2 PCSK5
GH09J076458 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 6.2 -66.1 -66091 4.1 CREB1 GATAD2A CTCF PRDM10 NFKBIZ ZNF692 POLR2A ZNF143 ZIC2 PATZ1 GCNT1 piR-33804-154 RFK piR-54987-147 PRUNE2
GH09J076455 Promoter/Enhancer 1.3 Ensembl ENCODE 8.2 -62.5 -62476 2.4 GATAD2A PRDM10 TFE3 LEF1 SOX13 IKZF1 RXRB IRF2 DPF2 GABPA RFK piR-33804-154 piR-54987-147 GCNT1 PRUNE2
GH09J076470 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 7.8 -79.4 -79383 8.2 SP1 PRDM10 BACH1 LARP7 RELA TCF12 IKZF2 RCOR1 TRIM22 ZNF600 GCNT1 RFK piR-56186-080 piR-39891-084 PRUNE2
GH09J076441 Enhancer 0.9 Ensembl ENCODE 9.7 -47.4 -47366 1.6 BACH1 STAT3 JUND RELA TCF12 IKZF2 TRIM22 EED ARID3A DPF2 piR-37097-118 piR-57133-618 piR-54987-147 RFK GCNT1 PRUNE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the RFK gene promoter:
  • AML1a
  • ATF-2
  • C/EBPalpha
  • GR-beta
  • MIF-1
  • Sox9
  • TBP
  • TFIID
  • USF-1
  • USF1

Genomic Locations for RFK Gene

Genomic Locations for RFK Gene
chr9:76,385,526-76,394,517
(GRCh38/hg38)
Size:
8,992 bases
Orientation:
Minus strand
chr9:79,000,433-79,009,444
(GRCh37/hg19)
Size:
9,012 bases
Orientation:
Minus strand

Genomic View for RFK Gene

Genes around RFK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RFK Gene

Proteins for RFK Gene

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

    Protein Symbol:
    Q969G6-RIFK_HUMAN
    Recommended name:
    Riboflavin kinase
    Protein Accession:
    Q969G6
    Secondary Accessions:
    • Q5JSG9
    • Q9NUT7

    Protein attributes for RFK Gene

    Size:
    155 amino acids
    Molecular mass:
    17623 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. Directly interacts with TNFRSF1A death domain. TNFRSF1A-binding may be supported by TRADD. In the absence of TNFRSF1A, interacts with TRADD. Independently of TNFRSF1A, interacts with the NADPH oxidase subunit CYBA.
    SequenceCaution:
    • Sequence=AAH07069.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92033.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RFK Gene

neXtProt entry for RFK Gene

Post-translational modifications for RFK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RFK

No data available for DME Specific Peptides for RFK Gene

Domains & Families for RFK Gene

Gene Families for RFK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for RFK Gene

Suggested Antigen Peptide Sequences for RFK Gene

GenScript: Design optimal peptide antigens:
  • Flavokinase (RIFK_HUMAN)
genes like me logo Genes that share domains with RFK: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RFK Gene

Function for RFK Gene

Molecular function for RFK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + riboflavin = ADP + FMN + H(+); Xref=Rhea:RHEA:14357, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57986, ChEBI:CHEBI:58210, ChEBI:CHEBI:456216; EC=2.7.1.26;.

Enzyme Numbers (IUBMB) for RFK Gene

Phenotypes From GWAS Catalog for RFK Gene

Gene Ontology (GO) - Molecular Function for RFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 19641494
GO:0005524 ATP binding IEA --
GO:0008531 riboflavin kinase activity IEA,NAS 12623014
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with RFK: view
genes like me logo Genes that share phenotypes with RFK: view

Animal Models for RFK Gene

MGI Knock Outs for RFK:
  • Rfk Rfk<tm1.2Jcbr>

Animal Model Products

CRISPR Products

miRNA for RFK Gene

miRTarBase miRNAs that target RFK

Inhibitory RNA Products

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

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

Localization for RFK Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFK Gene

Cytoplasm.

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 RFK gene
Compartment Confidence
cytosol 5
golgi apparatus 3
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 12623014
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RFK: view

Pathways & Interactions for RFK Gene

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

UniProtKB/Swiss-Prot Q969G6-RIFK_HUMAN

  • Pathway: Cofactor biosynthesis; FMN biosynthesis; FMN from riboflavin (ATP route): step 1/1.

Gene Ontology (GO) - Biological Process for RFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006771 riboflavin metabolic process IBA,TAS --
GO:0006915 apoptotic process IMP 19641494
GO:0009231 riboflavin biosynthetic process IEA,NAS 12623014
GO:0009398 FMN biosynthetic process IBA,IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with RFK: view

No data available for SIGNOR curated interactions for RFK Gene

Drugs & Compounds for RFK Gene

(6) Drugs for RFK Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Approved, Investigational Pharma Target 12
Riboflavin Approved, Investigational, Vet_approved Nutra Target, ligand 231
Citalopram Approved Pharma 597
Escitalopram Approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0

(4) Additional Compounds for RFK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with RFK: view

Transcripts for RFK Gene

mRNA/cDNA for RFK Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for RFK Gene

GeneLoc Exon Structure for
RFK

Expression for RFK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RFK Gene

This gene is overexpressed in Spleen (26.2) and Stomach (7.9).

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



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

SOURCE GeneReport for Unigene cluster for RFK Gene:

Hs.37558

mRNA Expression by UniProt/SwissProt for RFK Gene:

Q969G6-RIFK_HUMAN
Tissue specificity: Detected in brain, placenta and urinary bladder.

Evidence on tissue expression from TISSUES for RFK Gene

  • Nervous system(4.2)
  • Liver(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with RFK: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFK Gene

Orthologs for RFK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RFK 30 31
  • 99.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RFK 30 31
  • 93.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RFK 30 31
  • 92.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rfk 30
  • 90.32 (n)
Mouse
(Mus musculus)
Mammalia Rfk 30 17 31
  • 89.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia RFK 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RFK 30 31
  • 80.26 (n)
OneToMany
-- 31
  • 69 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia RFK 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rfk 30
  • 72.94 (n)
Str.3084 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15775 30
Zebrafish
(Danio rerio)
Actinopterygii rfk 30 31
  • 69.48 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG2846 30 31
  • 62.73 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R10H10.6 30 31
  • 56.17 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15213g 30
  • 54.86 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMN1 30 31 33
  • 54.26 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL109W 30
  • 54.13 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FMN/FHY 30
  • 56.43 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0464400 30
  • 53.85 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fmn1 30
  • 52.72 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03970 30
  • 51.18 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1889 31
  • 51 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7996 30
Species where no ortholog for RFK was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 RFK Gene

ENSEMBL:
Gene Tree for RFK (if available)
TreeFam:
Gene Tree for RFK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RFK: view image

Paralogs for RFK Gene

No data available for Paralogs for RFK Gene

Variants for RFK Gene

Additional dbSNP identifiers (rs#s) for RFK Gene

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

Variant ID Type Subtype PubMed ID
nsv6570 CNV insertion 18451855

Variation tolerance for RFK Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 6.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFK Gene

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

SNP Genotyping and Copy Number Assay Products

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 RFK Gene

Disorders for RFK Gene

MalaCards: The human disease database

(4) MalaCards diseases for RFK Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RFK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RFK

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

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

Publications for RFK Gene

  1. Riboflavin kinase couples TNF receptor 1 to NADPH oxidase. (PMID: 19641494) Yazdanpanah B … Krönke M (Nature 2009) 3 4 23
  2. Crystal structure of human riboflavin kinase reveals a beta barrel fold and a novel active site arch. (PMID: 12623014) Karthikeyan S … Zhang H (Structure (London, England : 1993) 2003) 3 4 23
  3. Ligand binding-induced conformational changes in riboflavin kinase: structural basis for the ordered mechanism. (PMID: 14580199) Karthikeyan S … Zhang H (Biochemistry 2003) 2 3 23
  4. Involvement of riboflavin kinase expression in cellular sensitivity against cisplatin. (PMID: 21308351) Hirano G … Kohno K (International journal of oncology 2011) 3 26
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for RFK Gene

  • Signalway ELISA kits for RFK
  • Signalway Proteins for RFK

Sources for RFK Gene