RFK riboflavin kinase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results from a study on gene expression variability markers in early-stage human embryos shows that RFK is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
DR4 and DR5 have a capability to activate Nox1 by recruiting RFK, resulting in ROS-mediated apoptotic cell death in tumor cells.
Title: Death receptors 4 and 5 activate Nox1 NADPH oxidase through riboflavin kinase to induce reactive oxygen species-mediated apoptotic cell death.
levels of riboflavin kinase expression correlate well with Gleason score, known as a good indicator of patient prognosis
Title: Involvement of riboflavin kinase expression in cellular sensitivity against cisplatin.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
results suggest that TNF, through the activation of RFK, enhances the incorporation of FAD in NADPH oxidase enzymes, a critical step for the assembly and activation of NADPH oxidase
Title: Riboflavin kinase couples TNF receptor 1 to NADPH oxidase.
the structure of riboflavin kinase cocrystallized with both MgADP and FMN is reported; drastic conformational changes associated with flavin binding are observed primarily at the so-called Flap I and Flap II loop regions
Title: Ligand binding-induced conformational changes in riboflavin kinase: structural basis for the ordered mechanism.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

WI-16973 (e-PCR)
- UniSTS:76351

G20734 (e-PCR)
- UniSTS:22095

A006D45 (e-PCR)
- UniSTS:22096

GDB:314949 (e-PCR)
- UniSTS:156503

D15S1477 (e-PCR)
- UniSTS:474482

EST209511 (e-PCR)
- UniSTS:60801

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

Process	Evidence Code	Pubs
involved_in FMN biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
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 flavin adenine dinucleotide biosynthetic process	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
involved_in riboflavin metabolic process	IDA Inferred from Direct Assay 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
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: riboflavin kinase

Names: 0610038L10Rik; ATP:riboflavin 5'-phosphotransferase; flavokinase

NP_060809.3

EC 2.7.1.26

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.