FCSK fucose kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: FCSKprovided by HGNC
Official Full Name: fucose kinaseprovided by HGNC
Primary source: HGNC:HGNC:29500
See related: Ensembl:ENSG00000157353 MIM:608675; AllianceGenome:HGNC:29500
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FUK; CDGF2; 1110046B12Rik
Summary: The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 3.1), kidney (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (70454595..70480274)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (76265623..76291305)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (70488498..70514177)

Chromosome 16 - NC_000016.10 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 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?

Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.
Title: Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.
Ectopic expression of FUK inhibits the formation and the proteolytic activities of invadopodia, suggesting that the fucose salvage pathway might control melanoma invasion through invadopodium-mediated ECM remodeling. FUK depletion in WM793 melanoma cells at least partially abrogated the L-fucose-mediated inhibition of invadopodium formation.
Title: The fucose salvage pathway inhibits invadopodia formation and extracellular matrix degradation in melanoma cells.

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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

Associated conditions

Description	Tests
Congenital disorder of glycosylation with defective fucosylation 2 MedGen: C5193028 OMIM: 618324 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

RH44544 (e-PCR)
- UniSTS:15179

D16S2583E (e-PCR)
- UniSTS:37978

D16S2587E (e-PCR)
- UniSTS:151659

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables fucokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fucokinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables fucokinase activity	NAS Non-traceable Author Statement more info	PubMed
enables fucokinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-L-fucose biosynthetic process	TAS Traceable Author Statement more info
involved_in GDP-L-fucose salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in GDP-L-fucose salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to dopamine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: L-fucose kinase

Names: fucokinase

NP_659496.2

EC 2.7.1.52

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)

NM_145059.3 → NP_659496.2 L-fucose kinase

See identical proteins and their annotated locations for NP_659496.2

Status: REVIEWED

Source sequence(s)

AJ441184, BC013735, BC032542

Consensus CDS

CCDS10891.2

UniProtKB/Swiss-Prot

Q5PSM3, Q5XKL6, Q6ZRA0, Q8N0W3, Q96MT9

UniProtKB/TrEMBL

B2RDL5

Related

ENSP00000288078.6, ENST00000288078.11

Conserved Domains (3) summary

COG2605
Location:712 → 996

COG2605; Predicted kinase related to galactokinase and mevalonate kinase [General function prediction only]

pfam00288
Location:827 → 894

GHMP_kinases_N; GHMP kinases N terminal domain

pfam07959
Location:97 → 495

Fucokinase; L-fucokinase