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    RFK riboflavin kinase [ Homo sapiens (human) ]

    Gene ID: 55312, updated on 9-Dec-2024

    Summary

    Official Symbol
    RFKprovided by HGNC
    Official Full Name
    riboflavin kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:30324
    See related
    Ensembl:ENSG00000135002 MIM:613010; AllianceGenome:HGNC:30324
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RIFK
    Summary
    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]
    Expression
    Ubiquitous expression in colon (RPKM 20.2), duodenum (RPKM 17.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RFK in Genome Data Viewer
    Location:
    9q21.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (76385526..76394426, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (88542098..88550997, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (79000442..79009342, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene proprotein convertase subtilisin/kexin type 5 Neighboring gene uncharacterized LOC124902183 Neighboring gene RNA binding motif protein 22 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 15008 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:78992236-78992496 Neighboring gene Sharpr-MPRA regulatory region 15545 Neighboring gene Sharpr-MPRA regulatory region 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28471 Neighboring gene Sharpr-MPRA regulatory region 2310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28472 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:79032201-79032782 Neighboring gene ribosomal protein SA pseudogene 9 Neighboring gene glucosaminyl (N-acetyl) transferase 1 Neighboring gene H3 histone pseudogene 32

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11149

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables riboflavin kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables riboflavin kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables riboflavin kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables riboflavin kinase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    riboflavin kinase
    Names
    0610038L10Rik
    ATP:riboflavin 5'-phosphotransferase
    flavokinase
    NP_060809.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_018339.6NP_060809.3  riboflavin kinase

      See identical proteins and their annotated locations for NP_060809.3

      Status: VALIDATED

      Source sequence(s)
      AK315734, AL391868, DA154523, DB499473, DB531307
      Consensus CDS
      CCDS35044.2
      UniProtKB/Swiss-Prot
      Q5JSG9, Q969G6, Q9NUT7
      UniProtKB/TrEMBL
      B2RDZ2
      Related
      ENSP00000365926.1, ENST00000376736.6
      Conserved Domains (1) summary
      pfam01687
      Location:5130
      Flavokinase; Riboflavin kinase

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      76385526..76394426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      88542098..88550997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)