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RFK Gene

protein-coding   GIFtS: 58
GCID: GC09M079000

Riboflavin Kinase

  See RFK-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Riboflavin Kinase1 2     flavokinase2
ATP:Riboflavin 5'-Phosphotransferase2 3     EC 2.7.1.263
0610038L10Rik2     Flavokinase3
RIFK2     

External Ids:    HGNC: 303241   Entrez Gene: 553122   Ensembl: ENSG000001350027   OMIM: 6130105   UniProtKB: Q969G63   

Export aliases for RFK gene to outside databases

Previous GC identifers: GC09M074458 GC09M076230 GC09M078190 GC09M048829


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include riboflavin kinase activity.

UniProtKB/Swiss-Prot: RIFK_HUMAN, Q969G6
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFK gene promoter:
         TBP   USF1   AML1a   GR-beta   ATF-2   MIF-1   C/EBPalpha   USF-1   TFIID   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFK promoter sequence
   Search Chromatin IP Primers for RFK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.13   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q21.31

RFK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFK gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M079000:  view genomic region     (about GC identifiers)

Start:
79,000,433 bp from pter      End:
79,009,444 bp from pter
Size:
9,012 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RIFK_HUMAN, Q969G6 (See protein sequence)
Recommended Name: Riboflavin kinase  
Size: 155 amino acids; 17623 Da
Cofactor: Zinc or magnesium
Subunit: 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
Sequence caution: Sequence=AAH07069.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA92033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for RFK:
1NB0 (3D)        1NB9 (3D)        1P4M (3D)        1Q9S (3D)    
Secondary accessions: Q5JSG9 Q9NUT7

Explore the universe of human proteins at neXtProt for RFK: NX_Q969G6

Explore proteomics data for RFK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RFK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060809.3  
    ENSEMBL proteins: 
     ENSP00000365926   ENSP00000417215  
    Reactome Protein details: Q969G6

    RFK Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR023468 Riboflavin_kinase
     IPR023465 Riboflavin_kinase_domain
     IPR015865 Riboflavin_kinase_bac/euk

    Graphical View of Domain Structure for InterPro Entry Q969G6

    ProtoNet protein and cluster: Q969G6


    Find genes that share domains with RFK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIFK_HUMAN, Q969G6
    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
    Catalytic activity: ATP + riboflavin = ADP + FMN

         Enzyme Number (IUBMB): EC 2.7.1.261

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0008531riboflavin kinase activity TAS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with RFK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RFK:
     Proliferating cells 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rfk):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    Find genes that share phenotypes with RFK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rfktm1.2Jcbr for RFK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFK
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    miRNA
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    miRTarBase miRNAs that target RFK:
    hsa-mir-103a-3p (MIRT027183), hsa-mir-186-5p (MIRT021169), hsa-mir-16-5p (MIRT031929)

    Block miRNA regulation of human, mouse, rat RFK using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RFK:
    hsa-miR-124* hsa-miR-4282 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidRFK 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RIFK_HUMAN, Q969G6: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS12623014
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with RFK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RFK About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    3Folate Metabolism
    Folate Metabolism0.54
    4Selenium Pathway
    Selenium Pathway
    5Riboflavin metabolism
    Riboflavin metabolism


    Find genes that share SuperPaths with RFK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for RFK
        Selenium Pathway
    Folate Metabolism


    1 Reactome Pathway for RFK
        Vitamin B2 (riboflavin) metabolism


    2 Kegg Pathways  (Kegg details for RFK):
        Riboflavin metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: RIFK_HUMAN, Q969G6
    Pathway: Cofactor biosynthesis; FMN biosynthesis; FMN from riboflavin (ATP route): step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFK
    Interactions:

        Search GeneGlobe Interaction Network for RFK

    2 Interacting proteins for RFK (Q969G62, 3) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJB9Q9UBS32, 3MINT-65688 I2D: score=4 
    RAB1AP628202, 3MINT-63972 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006771riboflavin metabolic process TAS--
    GO:0006915apoptotic process IMP19641494
    GO:0009231riboflavin biosynthetic process NAS12623014

    Find genes that share ontologies with RFK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RFK (RIFK)

    5 HMDB Compounds for RFK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Riboflavin(-)-Riboflavin (see all 30)83-88-5--

    3 DrugBank Compounds for RFK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    RiboflavinLactoflavin (see all 9)83-88-5targetligand16081269 21308351 15668000 17290783 16962092 16183635
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Riboflavin Monophosphate-- 146-17-8target--17139284 17016423 10592235

    6 Novoseek inferred chemical compound relationships for RFK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    riboflavin 85.5 26 12623014 (3), 19641494 (2), 14580199 (2), 1789431 (1) (see all 8)
    flavin mononucleotide 83.4 4 1789431 (1), 19569646 (1)
    flavin-adenine dinucleotide 82 1 10721897 (1)
    flavin 76.4 5 14580199 (2), 12623014 (1)
    mgadp 73 1 14580199 (1)
    atp 25.3 2 14580199 (1)

    2 PharmGKB related drug/compound annotations for RFK gene    About this table
    Drug/compound PharmGKB Annotation
    citalopramCA  
    escitalopramCA  



    Find genes that share compounds with RFK           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RFK gene: 
    NM_018339.5  

    Unigene Cluster for RFK:

    Riboflavin kinase
    Hs.37558  [show with all ESTs]
    Unigene Representative Sequence: NM_018339
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376736(uc004akd.2) ENST00000490113 ENST00000483155 ENST00000476087
    ENST00000472900 ENST00000479197
    miRNA
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    Additional mRNA sequence: 

    AF038172.1 AK002011.1 AK307079.1 AK315734.1 BC007069.1 

    12 DOTS entries:

    DT.317125  DT.99936349  DT.121205758  DT.100811564  DT.100811553  DT.101958313  DT.100661563  DT.100799444 
    DT.95130683  DT.99927362  DT.91680886  DT.95378083 

    Selected AceView cDNA sequences (see all 197):

    AI799250 BG565581 R28529 AW166451 CR618476 BQ019631 CN479263 AU134474 
    AA491261 AI016722 AI583586 BX439925 BM793973 CB852133 AI049806 AW960758 
    BQ006027 CB114430 BM696945 CA414497 BQ086205 NM_018339 AW954135 AI627326 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RFK    About this scheme

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


    ECgene alternative splicing isoforms for RFK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RFK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RFK Expression
    About this image


    RFK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    RFK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37558

    UniProtKB/Swiss-Prot: RIFK_HUMAN, Q969G6
    Tissue specificity: Detected in brain, placenta and urinary bladder

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RFK gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfk1 , 5 riboflavin kinase1, 5 89.25(n)1
    93.55(a)1
      19 (12.82 cM)5
    543911  NM_019437.31  NP_062310.11 
     173940435 
    chicken
    (Gallus gallus)
    Aves RFK1 riboflavin kinase 80.26(n)
    80.26(a)
      431449  NM_001031605.1  NP_001026776.1 
    lizard
    (Anolis carolinensis)
    Reptilia RFK6
    riboflavin kinase
    73(a)
    1 ↔ 1
    2(46207149-46216085)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157752 Xenopus laevis transcribed sequence with moderate similarity more 76.87(n)    AW641019.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rfk1 riboflavin kinase 69.48(n)
    75.97(a)
      560915  XM_684315.4  XP_689407.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG28461 CG2846 62.73(n)
    61.81(a)
      40936  NM_141492.2  NP_649749.2 
    worm
    (Caenorhabditis elegans)
    Secernentea R10H10.61 R10H10.6 56.17(n)
    48.82(a)
      187789  NM_069521.1  NP_501922.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FMN1(YDR236C)4
    FMN11
    Riboflavin kinase, phosphorylates riboflavin to form more4
    FMN11
    54.26(n)1
    47.29(a)1
      4(935892-935236)4
    8518221, 4  NP_010522.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FMN/FHY1 FMN/FHY 56.43(n)
    50.71(a)
      828232  NM_118267.4  NP_193878.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g04644001 Os10g0464400 53.85(n)
    49.65(a)
      4348834  NM_001071329.1  NP_001064794.1 


    ENSEMBL Gene Tree for RFK (if available)
    TreeFam Gene Tree for RFK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFK gene

    Find genes that share paralogs with RFK           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RFK (see all 12)
    PGOHUM00000242152 PGOHUM00000262038 PGOHUM00000234504 PGOHUM00000244506 PGOHUM00000262136


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFK (see all 241)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1811947291,2
    C--78999980(+) CTGTAA/GGCCTC 1 -- ds50010--------
    rs1146004921,2
    C,F--79000014(+) CTGGGG/AATGAC 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1475402851,2
    --79000039(+) CAGCAG/TGCAAC 1 -- ds50010--------
    rs1400387671,2
    --79000058(+) GCAAAC/TGAGTT 1 -- ds50010--------
    rs736502051,2
    C,F--79000130(+) GGCAGG/CAGTTA 1 -- ds50012Minor allele frequency- C:0.14WA 120
    rs1858444341,2
    --79000193(+) TGTAAC/TAGGAA 1 -- ds50010--------
    rs413061551,2
    C,F--79000324(+) TAGAAC/ATACAG 1 -- ds50012Minor allele frequency- A:0.07WA NA 238
    rs1918115241,2
    --79000396(+) AAATTC/TGAAAT 1 -- ds50010--------
    rs800236761,2
    F--79000397(+) AATTCG/AAAATA 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs413100511,2
    C,F--79000632(+) AACATA/GTCAAA 1 -- ut312Minor allele frequency- G:0.00NA 4

    HapMap Linkage Disequilibrium report for RFK (79000433 - 79009444 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RFK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6570CNV Insertion18451855
    nsv893479CNV Gain21882294
    nsv893478CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RFK
    DNA2.0 Custom Variant and Variant Library Synthesis for RFK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613010    OMIM disorders: --

    1 disease for RFK:    
    About MalaCards
    riboflavin deficiency


    Find genes that share disorders with RFK           About GenesLikeMe

    Genetic Association Database (GAD): RFK
    Human Genome Epidemiology (HuGE) Navigator: RFK (2 documents)

    Export disorders for RFK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RFK gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with RFK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ligand binding-induced conformational changes in riboflavin kinase: structural basis for the ordered mechanism. (PubMed id 14580199)1, 3, 9 Karthikeyan S....Zhang H. (Biochemistry 2003)
    2. Crystal structure of human riboflavin kinase reveals a beta barrel fold and a novel active site arch. (PubMed id 12623014)1, 2, 9 Karthikeyan S....Zhang H. (Structure 2003)
    3. Riboflavin kinase couples TNF receptor 1 to NADPH oxidase. (PubMed id 19641494)1, 2, 9 Yazdanpanah B.... Kroenke M. (Nature 2009)
    4. Involvement of riboflavin kinase expression in cellular sensitivity against cisplatin. (PubMed id 21308351)1, 7 Hirano G....Kohno K. (Int. J. Oncol. 2011)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. HepG2 cells develop signs of riboflavin deficiency within 4 days of culture in riboflavin-deficient medium. (PubMed id 16081269)7, 9 Werner R....Zempleni J. (J. Nutr. Biochem. 2005)
    10. Death receptors 4 and 5 activate Nox1 NADPH oxidase through riboflavin kinase to induce reactive oxygen species-mediated apoptotic cell death. (PubMed id 22158615)1 Park K.J....Kim Y.S. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55312 HGNC: 30324 AceView: RFK Ensembl:ENSG00000135002 euGenes: HUgn55312
    ECgene: RFK Kegg: 55312 H-InvDB: RFK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RFK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RFK gene:
    Search GeneIP for patents involving RFK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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