FN3K fructosamine 3 kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: FN3Kprovided by HGNC
Official Full Name: fructosamine 3 kinaseprovided by HGNC
Primary source: HGNC:HGNC:24822
See related: Ensembl:ENSG00000167363 MIM:608425; AllianceGenome:HGNC:24822
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
Summary: A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]
Expression: Broad expression in kidney (RPKM 47.7), brain (RPKM 22.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (82735615..82751196)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (83610119..83625854)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (80693491..80709072)

Chromosome 17 - NC_000017.11 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?

A redox-active switch in fructosamine-3-kinases expands the regulatory repertoire of the protein kinase superfamily.
Title: A redox-active switch in fructosamine-3-kinases expands the regulatory repertoire of the protein kinase superfamily.
FN3K expression in COPD: a potential comorbidity factor for cardiovascular disease.
Title: FN3K expression in COPD: a potential comorbidity factor for cardiovascular disease.
FN3K is a targetable modulator of NRF2 activity in cancer.
Title: The Oncogenic Action of NRF2 Depends on De-glycation by Fructosamine-3-Kinase.
In a multiple regression analysis, FN3K rs1056534, TF polymorphism and presence of diabetes mellitus were predictors for HHV-8 infection.
Title: The association between fructosamine-3 kinase 900C/G polymorphism, transferrin polymorphism and human herpesvirus-8 infection in diabetics living in South Kivu.
FN3K could act in concert with other molecular mechanisms and may impact on gene expression and activity of other enzymes involved in deglycation process
Title: Possible role of fructosamine 3-kinase genotyping for the management of diabetic patients.
Report association of rs1056534 and rs3848403 of fructosamine 3-kinase gene with sRAGE in patients with diabetes.
Title: Fructosamine 3-kinase and glyoxalase I polymorphisms and their association with soluble RAGE and adhesion molecules in diabetes.
The marginal association of rs1056534 of FN3K is located in exon 6 with diabetic nephropathy progression.
Title: Genetic variability in enzymes of metabolic pathways conferring protection against non-enzymatic glycation versus diabetes-related morbidity and mortality.
two new mutations and additional variants within the FN3K gene in diabetic patients
Title: Genetic variability of the fructosamine 3-kinase gene in diabetic patients.
These findings suggest that deglycating enzymes Glyoxalase I and fructosamine-3-kinase may be involved in the malignant transformation of colon mucosa.
Title: Low red blood cell levels of deglycating enzymes in colorectal cancer patients.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables kinase activity	TAS Traceable Author Statement more info
enables protein-fructosamine 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-fructosamine 3-kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein-ribulosamine 3-kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in fructosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructoselysine metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in post-translational protein modification	TAS Traceable Author Statement more info
involved_in protein deglycation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: fructosamine-3-kinase

Names: protein-psicosamine 3-kinase FN3K; protein-ribulosamine 3-kinase FN3K

NP_071441.1

EC 2.7.1.171

EC 2.7.1.172

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.