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    FPGT fucose-1-phosphate guanylyltransferase [ Homo sapiens (human) ]

    Gene ID: 8790, updated on 17-Jun-2019

    Summary

    Official Symbol
    FPGTprovided by HGNC
    Official Full Name
    fucose-1-phosphate guanylyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:3825
    See related
    Ensembl:ENSG00000254685 MIM:603609
    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
    GFPP
    Summary
    L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.2), kidney (RPKM 4.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See FPGT in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (74198212..74208702)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74663896..74674533)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 8, pseudogene Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene FPGT-TNNI3K readthrough Neighboring gene TNNI3 interacting kinase Neighboring gene uncharacterized LOC105378805 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough FPGT-TNNI3K

    Readthrough gene: FPGT-TNNI3K, Included gene: TNNI3K

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    fucose-1-phosphate guanylyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    fucose metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    fucose-1-phosphate guanylyltransferase
    Names
    GDP-L-fucose diphosphorylase
    GDP-beta-L-fucose pyrophosphorylase
    fucose-1-phosphate guanyltransferase
    NP_001186257.2
    NP_001186258.2
    NP_003829.3

    NCBI Reference Sequences (RefSeq)

    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_001199328.2NP_001186257.2  fucose-1-phosphate guanylyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a segment in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC098692, AK299468, DB066016
      UniProtKB/Swiss-Prot
      O14772
      Related
      ENSP00000432819.1, ENST00000534056.5
      Conserved Domains (1) summary
      cl00160
      Location:160195
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
    2. NM_001199329.2NP_001186258.2  fucose-1-phosphate guanylyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC098692, AK304490, DB066016
      UniProtKB/Swiss-Prot
      O14772
      Related
      ENSP00000359931.4, ENST00000370894.9
    3. NM_003838.4NP_003829.3  fucose-1-phosphate guanylyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC098692, AF017445, DB066016
      Consensus CDS
      CCDS663.2
      UniProtKB/Swiss-Prot
      O14772
      UniProtKB/TrEMBL
      A0A0A0MRP2
      Related
      ENSP00000359935.3, ENST00000370898.7
      Conserved Domains (1) summary
      pfam07959
      Location:127545
      Fucokinase; L-fucokinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      74198212..74208702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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