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RFK riboflavin kinase [ Homo sapiens (human) ]

Gene ID: 55312, updated on 11-Jun-2021

Summary

Official Symbol
RFKprovided by HGNC
Official Full Name
riboflavin kinaseprovided by HGNC
Primary source
HGNC:HGNC:30324
See related
Ensembl:ENSG00000135002 MIM:613010
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
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Genomic context

See RFK in Genome Data Viewer
Location:
9q21.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (76385526..76394426, complement)
105.20201022 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 uncharacterized LOC105376091 Neighboring gene proprotein convertase subtilisin/kexin type 5 Neighboring gene RNA binding motif protein 22 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10 Neighboring gene Sharpr-MPRA regulatory region 2310 Neighboring gene ribosomal protein SA pseudogene 9

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

Associated conditions

Description Tests
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables riboflavin kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in FMN biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in FMN biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of NAD(P)H oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in riboflavin biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in riboflavin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in riboflavin metabolic process 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
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    Q969G6
    UniProtKB/TrEMBL
    B2RDZ2
    Related
    ENSP00000365926.1, ENST00000376736.6
    Conserved Domains (1) summary
    pfam01687
    Location:5130
    Flavokinase; Riboflavin kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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