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FCSK fucose kinase [ Homo sapiens (human) ]

Gene ID: 197258, updated on 23-Nov-2021

Summary

Official Symbol
FCSKprovided by HGNC
Official Full Name
fucose kinaseprovided by HGNC
Primary source
HGNC:HGNC:29500
See related
Ensembl:ENSG00000157353 MIM:608675
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
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Genomic context

See FCSK in Genome Data Viewer
Location:
16q22.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (70454590..70480274)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70488498..70514177)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S27 pseudogene 26 Neighboring gene RNA, U6 small nuclear 23, pseudogene Neighboring gene component of oligomeric golgi complex 4 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
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 salvage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
XP_006721225.1
XP_011521230.1
XP_011521231.1
XP_011521233.1
XP_016878501.1
XP_016878502.1
XP_024305948.1
XP_024305949.1

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)

  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
    Q8N0W3
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    70454590..70480274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023013.2XP_016878502.1  L-fucose kinase isoform X4

  2. XM_006721162.2XP_006721225.1  L-fucose kinase isoform X2

    Conserved Domains (3) summary
    COG2605
    Location:685969
    COG2605; Predicted kinase related to galactokinase and mevalonate kinase [General function prediction only]
    pfam00288
    Location:800867
    GHMP_kinases_N; GHMP kinases N terminal domain
    pfam07959
    Location:97468
    Fucokinase; L-fucokinase
  3. XM_011522931.3XP_011521233.1  L-fucose kinase isoform X3

    Conserved Domains (3) summary
    COG2605
    Location:712963
    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
  4. XM_024450180.1XP_024305948.1  L-fucose kinase isoform X5

    Conserved Domains (2) summary
    pfam07959
    Location:97495
    Fucokinase; L-fucokinase
    cl27720
    Location:712867
    GHMP_kinases_N; GHMP kinases N terminal domain
  5. XM_011522928.1XP_011521230.1  L-fucose kinase isoform X1

    See identical proteins and their annotated locations for XP_011521230.1

    UniProtKB/Swiss-Prot
    Q8N0W3
    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
  6. XM_011522929.1XP_011521231.1  L-fucose kinase isoform X1

    See identical proteins and their annotated locations for XP_011521231.1

    UniProtKB/Swiss-Prot
    Q8N0W3
    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
  7. XM_017023012.2XP_016878501.1  L-fucose kinase isoform X1

    UniProtKB/Swiss-Prot
    Q8N0W3
    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
  8. XM_024450181.1XP_024305949.1  L-fucose kinase isoform X6

    Conserved Domains (1) summary
    cl26826
    Location:21719
    Fucokinase; L-fucokinase

RNA

  1. XR_001751854.2 RNA Sequence

  2. XR_002957789.1 RNA Sequence

  3. XR_002957788.1 RNA Sequence

    Related
    ENST00000464499.5
  4. XR_001751857.2 RNA Sequence

  5. XR_001751856.2 RNA Sequence

  6. XR_002957790.1 RNA Sequence

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