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

    Gene ID: 8790, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:3825
    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
    mouse all
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    Genomic context

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    See FPGT in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74198242..74208702)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74039794..74050235)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74663926..74674386)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 8, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:74467939-74468440 Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene MPRA-validated peak287 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 994 Neighboring gene FPGT-TNNI3K readthrough Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:74710898-74711549 Neighboring gene TNNI3 interacting kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74817906-74818406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74818407-74818907 Neighboring gene Sharpr-MPRA regulatory region 9784 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Purification, crystallization and preliminary X-ray characterization of the human GTP fucose pyrophosphorylase. Quirk S, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2006 Apr 1. PMID 16582493, Free PMC Article
    2. Identification of catalytic amino acids in the human GTP fucose pyrophosphorylase active site. Quirk S, et al. Biochemistry, 2005 Oct 4. PMID 16185085
    3. Substrate discrimination by the human GTP fucose pyrophosphorylase. Quirk S, et al. Biochemistry, 2005 Aug 16. PMID 16086588
    4. GDP-L-fucose pyrophosphorylase. Purification, cDNA cloning, and properties of the enzyme. Pastuszak I, et al. J Biol Chem, 1998 Nov 13. PMID 9804772
    5. The UAS thioredoxin-like domain of UBXN7 regulates E3 ubiquitin ligase activity of RNF111/Arkadia. Amhaz S, et al. BMC Biol, 2023 Apr 7. PMID 37024974, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. identified five amino acid residues that are critical for catalysis.
      Title: Identification of catalytic amino acids in the human GTP fucose pyrophosphorylase active site.
    2. the nature of the purine base is the major determinant in substrate specificity, followed by the nature of the hexose-1-P, and finally by the ribose moiety. Binding is enthalpy-driven and does not involve proton transfer
      Title: Substrate discrimination by the human GTP fucose pyrophosphorylase.
    3. A complete native data set has been collected as a first step in determining the three-dimensional structure of this enzyme.
      Title: Purification, crystallization and preliminary X-ray characterization of the human GTP fucose pyrophosphorylase.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough FPGT-TNNI3K

    Readthrough gene: FPGT-TNNI3K, Included gene: TNNI3K

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables fucose-1-phosphate guanylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fucose-1-phosphate guanylyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP-L-fucose biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in fucose metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    fucose-1-phosphate guanylyltransferase
    Names
    GDP-L-fucose diphosphorylase
    GDP-beta-L-fucose pyrophosphorylase
    fucose-1-phosphate guanyltransferase
    NP_001186257.3
    NP_001186258.3
    NP_003829.4

    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_001199328.3 → NP_001186257.3  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
      Consensus CDS
      CCDS55606.1
      UniProtKB/TrEMBL
      A0A0S2Z4Z3
      Related
      ENSP00000432819.1, ENST00000534056.5
      Conserved Domains (2) summary
      PRK13412
      Location:77 → 136
      fkp; bifunctional fucokinase/L-fucose-1-P-guanylyltransferase; Provisional
      pfam07959
      Location:110 → 279
      Fucokinase; L-fucokinase

    2. NM_001199329.3 → NP_001186258.3  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
      Consensus CDS
      CCDS55607.1
      UniProtKB/TrEMBL
      A0A0S2Z4P4
      Related
      ENSP00000359931.4, ENST00000370894.9

    3. NM_003838.5 → NP_003829.4  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
      Consensus CDS
      CCDS663.3
      UniProtKB/TrEMBL
      A0A0S2Z5C6, Q53FM8
      Related
      ENSP00000359935.4, ENST00000370898.9
      Conserved Domains (1) summary
      pfam07959
      Location:114 → 533
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      74198242..74208702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      74039794..74050235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14772.3 GenPept UniProtKB/Swiss-Prot:O14772

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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