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Aliases for RFK Gene

Aliases for RFK Gene

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

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. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and TNFR1 Pathway. GO annotations related to this gene include riboflavin kinase activity.

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

Genomics for RFK Gene

Regulatory Elements for RFK Gene

Enhancers for RFK 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
GH09G076392 1.1 ENCODE 10.8 -0.1 -66 3.2 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF263 RFK GCNT1 RPSAP9
GH09G076455 1.3 Ensembl ENCODE 8.2 -61.9 -61942 1.4 FOXA2 ATF1 ARNT ARID4B FEZF1 ZNF48 TCF12 ZNF766 GATA2 SP5 RFK ENSG00000233814 LOC105376093
GH09G076372 1.3 Ensembl ENCODE 6.6 +20.2 20173 3.5 FOXA2 ATF1 MLX ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF48 YY1 PCSK5 GCNT1 RFK RBM22P5
GH09G076470 1.1 Ensembl ENCODE 7.8 -78.0 -77974 3.4 PKNOX1 TBL1XR1 BMI1 ZBTB7B CBX5 ZNF207 RCOR1 RELB ETV6 IKZF2 GCNT1 RFK LOC105376093 ENSG00000233814
GH09G076441 0.8 ENCODE 9.7 -47.4 -47356 1.6 TBL1XR1 BMI1 GATA2 FOS RELB ETV6 IKZF2 CREM JUNB GATAD2B RFK ENSG00000233814 LOC105376093
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFK on UCSC Golden Path with GeneCards custom track

Promoters for RFK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000236139 228 2201 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF263

Genomic Location for RFK Gene

Chromosome:
9
Start:
76,385,517 bp from pter
End:
76,394,528 bp from pter
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; 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA92033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Protein Domains for RFK Gene

Suggested Antigen Peptide Sequences for RFK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for RFK Gene

Molecular function for RFK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + riboflavin = ADP + FMN.
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.

Enzyme Numbers (IUBMB) for RFK Gene

Gene Ontology (GO) - Molecular Function for RFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008531 riboflavin kinase activity TAS,IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding 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 tm1.2Jcbr

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RFK

Flow Cytometry Products

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
mitochondrion 3
golgi apparatus 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 12623014
GO:0005739 mitochondrion IEA --
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 TAS --
GO:0006915 apoptotic process IMP 19641494
GO:0009231 riboflavin biosynthetic process NAS,IEA 12623014
GO:0009398 FMN biosynthetic process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riboflavin Approved, Vet_approved Nutra Target, ligand 174
Citalopram Approved Pharma 512
Escitalopram Approved, Investigational Pharma 0
Adenosine triphosphate Approved Nutra 0
Flavin Mononucleotide Experimental Pharma Target 6

(4) Additional Compounds for RFK Gene - From: Novoseek and 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
genes like me logo Genes that share compounds with RFK: view

Transcripts for RFK Gene

Unigene Clusters for RFK Gene

Riboflavin kinase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RFK

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
RFK

Expression for RFK Gene

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



NURSA nuclear receptor signaling pathways regulating expression of RFK Gene:

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(3.9)
genes like me logo Genes that share expression patterns with RFK: view

Primer Products

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 34 35
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia RFK 34 35
  • 93.76 (n)
dog
(Canis familiaris)
Mammalia RFK 34 35
  • 92.9 (n)
rat
(Rattus norvegicus)
Mammalia Rfk 34
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Rfk 34 16 35
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RFK 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFK 34 35
  • 80.26 (n)
-- 35
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RFK 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfk 34
  • 72.94 (n)
Str.3084 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15775 34
zebrafish
(Danio rerio)
Actinopterygii rfk 34 35
  • 69.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2846 34 35
  • 62.73 (n)
worm
(Caenorhabditis elegans)
Secernentea R10H10.6 35 34
  • 56.17 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15213g 34
  • 54.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMN1 34 35 37
  • 54.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL109W 34
  • 54.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FMN/FHY 34
  • 56.43 (n)
rice
(Oryza sativa)
Liliopsida Os10g0464400 34
  • 53.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fmn1 34
  • 52.72 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03970 34
  • 51.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1889 35
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7996 34
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)

Paralogs for RFK Gene

No data available for Paralogs for RFK Gene

Variants for RFK Gene

Sequence variations from dbSNP and Humsavar for RFK Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000001092 -- 76,396,338(+) TAATC(C/T)CAGCA upstream-variant-2KB
rs1000560741 -- 76,389,207(+) AAGTG(A/C)CTCAG intron-variant
rs1001016414 -- 76,385,528(+) AAATA(C/T)CACTT utr-variant-3-prime
rs1001489730 -- 76,394,375(+) CGGGC(A/G)CCTGA utr-variant-5-prime
rs1001501089 -- 76,394,476(+) GAGCC(A/G)GCCTC utr-variant-5-prime

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)

Relevant External Links for RFK Gene

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

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

Disorders for RFK Gene

MalaCards: The human disease database

(1) MalaCards diseases for RFK Gene - From: GeneCards

Disorder Aliases PubMed IDs
riboflavin deficiency
  • rbfvd
- elite association - COSMIC cancer census association via MalaCards
Search RFK in MalaCards View complete list of genes associated with diseases

Relevant External Links for RFK

Genetic Association Database (GAD)
RFK
Human Genome Epidemiology (HuGE) Navigator
RFK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFK
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. … Kroenke M. (Nature 2009) 3 4 22 64
  2. Ligand binding-induced conformational changes in riboflavin kinase: structural basis for the ordered mechanism. (PMID: 14580199) Karthikeyan S. … Zhang H. (Biochemistry 2003) 2 3 22 64
  3. Crystal structure of human riboflavin kinase reveals a beta barrel fold and a novel active site arch. (PMID: 12623014) Karthikeyan S. … Zhang H. (Structure 2003) 3 4 22 64
  4. Involvement of riboflavin kinase expression in cellular sensitivity against cisplatin. (PMID: 21308351) Hirano G. … Kohno K. (Int. J. Oncol. 2011) 3 25 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for RFK Gene

Sources for RFK Gene

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