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    FCSK fucose kinase [ Homo sapiens (human) ]

    Gene ID: 197258, updated on 27-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FCSK in Genome Data Viewer
    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_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 23, pseudogene Neighboring gene uncharacterized LOC124903708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70500319-70500820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70500821-70501320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70504733-70505668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11065 Neighboring gene Sharpr-MPRA regulatory region 8991 Neighboring gene component of oligomeric golgi complex 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11066 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70558263-70559000 Neighboring gene small nucleolar RNA, C/D box 111B Neighboring gene splicing factor 3b subunit 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39408

    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

    Preferred Names
    L-fucose kinase
    Names
    fucokinase
    NP_659496.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_145059.3NP_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:712996
      COG2605; Predicted kinase related to galactokinase and mevalonate kinase [General function prediction only]
      pfam00288
      Location:827894
      GHMP_kinases_N; GHMP kinases N terminal domain
      pfam07959
      Location:97495
      Fucokinase; L-fucokinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      70454595..70480274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      76265623..76291305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)