RFK - riboflavin kinase Gene

Also Known as RIFK

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55312

About RFK

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:76,385,526-76,394,426 (from NCBI)

This gene has 6 transcripts (splice variants) and 253 orthologues. Ubiquitous expression in colon (RPKM 20.2), duodenum (RPKM 17.4) and 25 other tissues.

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]

RFK Products (1)

mRNA Protein Name
NM_018339.6 NP_060809.3 riboflavin kinase
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19641494 GOA
enables riboflavin kinase activity IDA
IDA: Inferred from direct assay
19641494 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within apoptotic process IMP
IMP: Inferred from mutant phenotype
19641494 GOA
acts upstream of or within positive regulation of NAD(P)H oxidase activity IMP
IMP: Inferred from mutant phenotype
19641494 GOA
involved in riboflavin metabolic process IDA
IDA: Inferred from direct assay
19641494 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFK Protein Structure

Flavokinase

Flavokinase: Riboflavin kinase (4 - 130)

  • 0
  • 100
  • 155 a.a.
Protein Preferred Names Protein Names

riboflavin kinase

  • 0610038L10Rik

RFK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RFK Q969G6 TNFRSF1A Homo sapiens P19438 19641494
Intra
RFK Q969G6 CNTLN Homo sapiens Q9NXG0-2 32296183
Intra
RFK Q969G6 CNTLN Homo sapiens Q9NXG0-2 32296183
Intra
RFK Q969G6 CNTLN Homo sapiens Q9NXG0-2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RFK Proteins

Cat. No. Product Name Accession Purity
HY-P73677 RFK Protein, Human (His) Q969G6 (M1-H155) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Riboflavin Deficiency
  • Ariboflavinosis

  • Maternal Riboflavin Deficiency

  • RBFVD

  • Vitamin B2 Deficiency

  • Hyporiboflavinosis

Brown-Vialetto-Van Laere Syndrome
Fazio-Londe Disease
  • Fazio-Londe Syndrome

  • Riboflavin Transporter Deficiency Neuronopathy

  • Brown-Vialetto-Van Laere Syndrome

  • Progressive Bulbar Palsy Of Childhood

  • Bulbar Palsy, Progressive, Of Childhood

  • Bvvls

  • Pontobulbar Palsy With Deafness

  • Progressive Bulbar Palsy With Sensorineural Deafness

  • Riboflavin Transporter Deficiency

  • FALOND

  • Bulbar Palsy Progressive Of Childhood

  • Bulbar Palsy Of Childhood, Progressive

Multiple Acyl-Coa Dehydrogenase Deficiency
  • MADD

  • Ethylmalonic-Adipicaciduria

  • Ema

  • Glutaric Acidemia Iia

  • Glutaric Acidemia Iib

  • Ga Ii

  • Glutaric Acidemia Iic

  • Glutaric Acidemia Type 2

  • Glutaric Acidemia Ii

  • Glutaric Aciduria Ii

  • Electron Transfer Flavoprotein Deficiency

  • Glutaric Aciduria Type 2

  • Mad Deficiency

  • Glutaric Acidemia Type Ii

  • Glutaric Aciduria 2

  • Etfa Deficiency

  • Etfb Deficiency

  • Etfdh Deficiency

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency

  • Ga2

  • Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

  • Electron Transfer Flavoprotein Dehydrogenase Deficiency

  • Ga 2

  • Glutaric Acidemia 2

  • Glutaric Acidemia, Type 2

  • Glutaric Aciduria, Type 2

  • Mad

  • Multiple Fad Dehydrogenase Deficiency

  • Ethylmalonic Adipic Aciduria

  • Glutaricaciduria Ii

  • Glutaric Aciduria 2a

  • GA2A

  • Gaiia

  • Glutaricaciduria Iia

  • Glutaric Aciduria 2b

  • GA2B

  • Gaiib

  • Glutaricaciduria Iib

  • Glutaric Aciduria 2c

  • GA2C

  • Gaiic

  • Glutaricaciduria Iic

  • Glutaricaciduria, Type Iia

  • Glutaric Acidemia Type 2a

  • Glutaric Acidemia Type 2c

  • Glutaric Aciduria Iia

  • Glutaric Aciduria Iib

  • Glutaric Aciduria Iic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris RFK VGNC VGNC:54852
Rattus norvegicus RFK RGD RGD:1549748
Mus musculus RFK MGD MGI:1914688
Felis catus RFK VGNC VGNC:102975
Bos taurus RFK VGNC VGNC:33891
Others RFK NCBI