FCSK (fucose kinase)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 197258
Gene name Fucose kinase
Gene symbol FCSK
Synonyms (NCBI Gene)
1110046B12RikCDGF2FUK
Chromosome 16
Chromosome location 16q22.1
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 utiliz
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs199515460 A>C,T Pathogenic Missense variant, 3 prime UTR variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005829 Component Cytosol TAS
GO:0016301 Function Kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608675 29500 ENSG00000157353
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N0W3
Protein name L-fucose kinase (Fucokinase) (EC 2.7.1.52)
Protein function Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07959 Fucokinase 95 → 496 L-fucokinase Family
PF00288 GHMP_kinases_N 827 → 892 GHMP kinases N terminal domain Family
PF08544 GHMP_kinases_C 970 → 1051 GHMP kinases C terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts. {ECO:0000269|PubMed:30503518}.
Sequence 
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGAT
LNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPV
EALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSP
AYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATH
VSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYL
QSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQL
LAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDL
VLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLP
AEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRA
ATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDP
GVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKW
LSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGG
WSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCL
ADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGL
GTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRS
RAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNA
HSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQS
LAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTC
CPFP
Sequence length 1084
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Fructose and mannose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars 		  GDP-fucose biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
112
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital disorder of glycosylation with defective fucosylation 2 Likely pathogenic; Pathogenic rs1336799362, rs772518056 RCV003990216
RCV003990645
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs767576348 RCV005927025
Congenital disorder of glycosylation with defective fucosylation Conflicting classifications of pathogenicity rs375737602 RCV002238679
Familial cancer of breast Benign rs148360040 RCV005926464
Familial prostate cancer Conflicting classifications of pathogenicity rs562205568 RCV005911099
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 30503518
Congenital Disorders of Glycosylation Associate 30503518
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 30503518
Developmental Disabilities Associate 30503518
Melanoma Associate 29924834
Muscle Hypotonia Associate 30503518
Seizures Associate 30503518