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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFK Gene

protein-coding   GIFtS: 58
GCID: GC09M079000

Riboflavin Kinase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cellulitis, and lateral sclerosis, and among its related super-pathways are Metabolic pathways and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include riboflavin kinase activity and metal ion binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RFK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q969G6

  • RFK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFK Protein Expression
    REFSEQ proteins: NP_060809.3  
    ENSEMBL proteins: 
     ENSP00000365926   ENSP00000417215  
    Reactome Protein details: Q969G6
    Human Recombinant Protein Products for RFK: 
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    Novus Biologicals RFK Proteins
    Novus Biologicals RFK Lysates
    Sino Biological Recombinant Protein for RFK
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for RFK
    Cloud-Clone Corp. Proteins for RFK 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    RFK for ontologies           About GeneDecksing



    RFK Antibody Products: 
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    Abcam antibodies for RFK
    Cloud-Clone Corp. Antibodies for RFK 
    ThermoFisher Antibodies for RFK
    LSBio Antibodies in human, mouse, rat for RFK 

    Assay Products for RFK: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for RFK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RFK 
    Cloud-Clone Corp. CLIAs for RFK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    RFK for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0008531riboflavin kinase activity TAS--
    GO:0046872metal ion binding IEA--
         
    RFK for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RFK:
     Proliferating cells 

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

    RFK for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RFK 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RFK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFK 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFK 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFK
    3 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of RFK

    Clone
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    GenScript: all cDNA clones in your preferred vector: RFK (NM_018339)
    Sino Biological Human cDNA Clone for RFK
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                         Customized lentivirus expression plasmids for stable overexpression of RFK 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFK


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RFK About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Vitamin B2 (riboflavin) metabolism
    Vitamin B2 (riboflavin) metabolism
    4Selenium Pathway
    Selenium Pathway
    5Riboflavin metabolism
    Riboflavin metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for RFK
        Selenium Pathway
    Folate Metabolism


    4        Reactome Pathways for RFK
        Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors
    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


    RFK for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0009231riboflavin biosynthetic process NAS12623014
    GO:0009398FMN biosynthetic process IEA--

    RFK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RFK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about RFK / RIFK

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFK
    3 QIAGEN miScript miRNA 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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    OriGene RNAi products in human, mouse, rat for RFK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFK
    Clone
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    OriGene ORF clones in mouse, rat for RFK
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    GenScript: all cDNA clones in your preferred vector: RFK (NM_018339)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFK

    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 

    24/197 AceView cDNA sequences (see all 197):

    AW954135 AI049806 AW960758 AI022581 R77484 AA491261 CB114430 AW166451 
    BM978978 AW440413 BX439925 CB852133 AI799250 BG565581 AU134474 BM983708 
    AW151396 BQ006027 CR618476 CR603745 CR615561 AV647088 R28529 BM793973 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RFK expression in normal human tissues (normalized intensities)      RFK embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Blood (Cardiovascular System)
             mouse/organ system/cardiovascular system   
     
     Lung (Respiratory System)

    See RFK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFK

    SOURCE GeneReport for Unigene cluster: Hs.37558

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

        SABiosciences Custom PCR Arrays for RFK
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFK

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RFK gene from 8/17 species (see all 17)    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
    Uncharacterized protein
    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_684315.3  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 Protein R10H10.6 56.17(n)
    48.82(a)
      187789  NM_069521.1  NP_501922.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FMN1(YDR236C)4 Riboflavin kinase, phosphorylates riboflavin to form more   --   4(935892-935236) 851822  NP_010522.1 


    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)
    About This Section
    Paralogs for RFK gene

    RFK for paralogs           About GeneDecksing


    5/12 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/241 SNPs in RFK are shown (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

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

    3 diseases for RFK:    About MalaCards
    cellulitis    lateral sclerosis    amyotrophic lateral sclerosis


    RFK for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RFK gene, integrated from 9 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. (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. (2003)
    3. Riboflavin kinase couples TNF receptor 1 to NADPH oxi dase. (PubMed id 19641494)1, 2, 9 Yazdanpanah B....KrAPnke M. (2009)
    4. Involvement of riboflavin kinase expression in cellul ar sensitivity against cisplatin. (PubMed id 21308351)1, 7 Hirano G....Kohno K. (2011)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2005)
    10. Death receptors 4 and 5 activate Nox1 NADPH oxidase th rough riboflavin kinase to induce reactive oxygen species-mediated apoptotic cel l death. (PubMed id 22158615)1 Park K.J....Kim Y.S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 55312 HGNC: 30324 AceView: RFK Ensembl:ENSG00000135002 euGenes: HUgn55312
    ECgene: RFK Kegg: 55312 H-InvDB: RFK

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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