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

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; 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

identified five amino acid residues that are critical for catalysis.
Title: Identification of catalytic amino acids in the human GTP fucose pyrophosphorylase active site.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1962E (e-PCR)
- UniSTS:151306

SHGC-84880 (e-PCR)
- UniSTS:104776

A005C44 (e-PCR)
- UniSTS:92

SGC38103 (e-PCR)
- UniSTS:2192

RH12316 (e-PCR)
- UniSTS:62637

FPGT_8857 (e-PCR)
- UniSTS:468423

D1S3377 (e-PCR)
- UniSTS:79341

Readthrough FPGT-TNNI3K

Readthrough gene: FPGT-TNNI3K, Included gene: TNNI3K

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
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

EC 2.7.7.30

NP_001186258.3

EC 2.7.7.30

NP_003829.4

EC 2.7.7.30

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)

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
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
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