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GFUS GDP-L-fucose synthase [ Homo sapiens (human) ]

Gene ID: 7264, updated on 2-Nov-2024

Summary

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Official Symbol
GFUSprovided by HGNC
Official Full Name
GDP-L-fucose synthaseprovided by HGNC
Primary source
HGNC:HGNC:12390
See related
Ensembl:ENSG00000104522 MIM:137020; AllianceGenome:HGNC:12390
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
FX; P35B; TSTA3; SDR4E1
Summary
Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in stomach (RPKM 48.7), skin (RPKM 31.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See GFUS in Genome Data Viewer
Location:
8q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143612618..143618048, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144762035..144767465, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144694788..144700218, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671257-144671758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671759-144672258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144678233-144678832 Neighboring gene tigger transposable element derived 5 Neighboring gene pyrroline-5-carboxylate reductase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144692853-144693352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144699896-144700500 Neighboring gene uncharacterized LOC105375798 Neighboring gene zinc finger protein 623 Neighboring gene U7 small nuclear RNA

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. Primary structure of human erythrocyte nicotinamide adenine dinucleotide phosphate (NADP[H])-binding protein FX: identification with the mouse tum- transplantation antigen P35B. Camardella L, et al. Blood, 1995 Jan 1. PMID 7803801
  2. High TSTA3 Expression as a Candidate Biomarker for Poor Prognosis of Patients With ESCC. Yang J, et al. Technol Cancer Res Treat, 2018 Jan 1. PMID 29950151, Free PMC Article
  3. FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation. Leal Quirino MW, et al. Folia Histochem Cytobiol, 2022. PMID 36583336
  4. Synthesis of GDP-L-fucose by the human FX protein. Tonetti M, et al. J Biol Chem, 1996 Nov 1. PMID 8910301
  5. Tissue-specific transplantation antigen P35B (TSTA3) immune response-mediated metabolism coupling cell cycle to postreplication repair network in no-tumor hepatitis/cirrhotic tissues (HBV or HCV infection) by biocomputation. Wang L, et al. Immunol Res, 2012 Jun. PMID 22528125

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation.
    Title: FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation.
  2. [TSTA3 gene promotes esophageal cancer invasion through MAPK-ERK pathway and downstream MMP2/9].
    Title: [TSTA3 gene promotes esophageal cancer invasion through MAPK-ERK pathway and downstream MMP2/9].
  3. TSTA3 facilitates esophageal squamous cell carcinoma progression through regulating fucosylation of LAMP2 and ERBB2.
    Title: TSTA3 facilitates esophageal squamous cell carcinoma progression through regulating fucosylation of LAMP2 and ERBB2.
  4. tissue-specific transplantation antigen P35B may serve as a novel biomarker for prognosis of patients with esophageal squamous cell carcinoma.
    Title: High TSTA3 Expression as a Candidate Biomarker for Poor Prognosis of Patients With ESCC.
  5. The findings suggest that miR-125a-5p/miR-125b suppress the expression of TSTA3, which controls cell proliferation and invasion by regulating CXCR4 expression. In conclusion, a high expression of TSTA3 exerts a proto-oncogenic effect during carcinogenesis and serves as an independent molecular marker for breast cancerpatients.
    Title: Oncogenic potential of TSTA3 in breast cancer and its regulation by the tumor suppressors miR-125a-5p and miR-125b.
  6. Data indicate that the structure of GDP-l-fucose synthase (FX) reveals the key catalytic residues.
    Title: The crystal structure of human GDP-L-fucose synthase.
  7. Tissue-specific transplantation antigen P35B (TSTA3) immune response-mediated metabolism coupling cell cycle to postreplication repair network in no-tumor hepatitis/cirrhotic tissues (HBV or HCV
    Title: Tissue-specific transplantation antigen P35B (TSTA3) immune response-mediated metabolism coupling cell cycle to postreplication repair network in no-tumor hepatitis/cirrhotic tissues (HBV or HCV infection) by biocomputation.
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

EBI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human GDP-L-fucose synthase (TSTA3: tissue specific transplantation antigen P35B) at amino acid residues 40-41 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-4-dehydro-D-rhamnose reductase activity TAS
Traceable Author Statement
more info
 PubMed 
enables GDP-L-fucose synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GDP-L-fucose synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GDP-mannose 3,5-epimerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' GDP-L-fucose biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' GDP-L-fucose biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in 'de novo' GDP-L-fucose biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in GDP-mannose metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in leukocyte cell-cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of endothelial cell-matrix adhesion via fibronectin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
GDP-L-fucose synthase
Names
3-5 epimerase/4-reductase
GDP-4-keto-6-deoxy-D-mannose epimerase-reductase
GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase
red cell NADP(H)-binding protein
short chain dehydrogenase/reductase family 4E, member 1
testis tissue sperm-binding protein Li 45a
tissue specific transplantation antigen 3
tissue specific transplantation antigen P35B
NP_001304712.1
NP_001400336.1
NP_001400337.1
NP_001400338.1
NP_001400339.1
NP_001400340.1
NP_001400341.1
NP_001400342.1
NP_003304.1

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_001317783.2 → NP_001304712.1  GDP-L-fucose synthase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC067930, BC001941, BF223661, BG709420
    UniProtKB/TrEMBL
    E9PKL9
    Conserved Domains (2) summary
    cd05239
    Location:15 → 318
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs
    pfam01370
    Location:16 → 251
    Epimerase; NAD dependent epimerase/dehydratase family

  2. NM_001413407.1 → NP_001400336.1  GDP-L-fucose synthase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC067930

  3. NM_001413408.1 → NP_001400337.1  GDP-L-fucose synthase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC067930
    UniProtKB/Swiss-Prot
    B2R8Y7, D3DWK5, Q13630, Q567Q9, Q9UDG7
    UniProtKB/TrEMBL
    A0A140VKC8

  4. NM_001413409.1 → NP_001400338.1  GDP-L-fucose synthase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC067930

  5. NM_001413410.1 → NP_001400339.1  GDP-L-fucose synthase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC067930
    Related
    ENSP00000431587.1, ENST00000529048.5

  6. NM_001413411.1 → NP_001400340.1  GDP-L-fucose synthase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC067930

  7. NM_001413412.1 → NP_001400341.1  GDP-L-fucose synthase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC067930

  8. NM_001413413.1 → NP_001400342.1  GDP-L-fucose synthase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC067930

  9. NM_003313.4 → NP_003304.1  GDP-L-fucose synthase isoform 2

    See identical proteins and their annotated locations for NP_003304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC093061, BF223661, CB132195
    Consensus CDS
    CCDS6408.1
    UniProtKB/Swiss-Prot
    B2R8Y7, D3DWK5, Q13630, Q567Q9, Q9UDG7
    UniProtKB/TrEMBL
    A0A140VKC8, E9PKL9
    Related
    ENSP00000398803.2, ENST00000425753.7
    Conserved Domains (1) summary
    cd05239
    Location:9 → 312
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs

RNA

  1. NR_182147.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC067930

  2. NR_182148.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC067930

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    143612618..143618048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    102658..108088 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144762035..144767465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13630.1 GenPept UniProtKB/Swiss-Prot:Q13630

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