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

    Gene ID: 7264, updated on 27-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
    • 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)

    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

    Gene LinkOut

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