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GFUS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4B8W, 4BKP, 4E5Y, 4B8Z, 4BL5
Identifiers
Aliases	GFUS, FX, P35B, SDR4E1, tissue specific transplantation antigen P35B, TSTA3, GDP-L-fucose synthase
External IDs	OMIM: 137020; MGI: 98857; HomoloGene: 2484; GeneCards: GFUS; OMA:GFUS - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.3 Start 143,612,618 bp End 143,618,048 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 D3|15 35.1 cM Start 75,796,525 bp End 75,801,681 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of stomach skin of abdomen mucosa of esophagus duodenum skin of leg salivary gland minor salivary glands body of pancreas mucosa of transverse colon fundus Top expressed in Paneth cell crypt of lieberkuhn of small intestine pyloric antrum large intestine colon lacrimal gland motor neuron duodenum seminal vesicula facial motor nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function electron transfer activity GDP-4-dehydro-D-rhamnose reductase activity catalytic activity oxidoreductase activity GDP-L-fucose synthase activity isomerase activity identical protein binding GDP-mannose 3,5-epimerase activity Cellular component extracellular exosome cytosol cytoplasm Biological process GDP-mannose metabolic process leukocyte cell-cell adhesion metabolism cytolysis 'de novo' GDP-L-fucose biosynthetic process nucleotide-sugar biosynthetic process electron transport chain T cell mediated cytotoxicity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7264 22122 Ensembl ENSG00000104522 ENSG00000278243 ENSMUSG00000022570 UniProt Q13630 P23591 RefSeq (mRNA) NM_003313 NM_001317783 NM_031201 NM_001357005 RefSeq (protein) NP_001304712 NP_003304 NP_112478 NP_001343934 Location (UCSC) Chr 8: 143.61 – 143.62 Mb Chr 15: 75.8 – 75.8 Mb PubMed search
Wikidata
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GDP-L-fucose synthetase is an enzyme that in humans is encoded by the TSTA3 gene.

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.

References

1. ^ ENSG00000278243 GRCh38: Ensembl release 89: ENSG00000104522, ENSG00000278243 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000022570 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Camardella L, Carratore V, Ciardiello MA, Damonte G, Benatti U, De Flora A (Feb 1995). "Primary structure of human erythrocyte nicotinamide adenine dinucleotide phosphate (NADP[H])-binding protein FX: identification with the mouse tum- transplantation antigen P35B". Blood. 85 (1): 264–7. doi:10.1182/blood.V85.1.264.bloodjournal851264. PMID 7803801.
6. Dyson PJ, de Smet C, Knight AM, Simon-Chazottes D, Guenet JL, Boon T (May 1992). "Mapping of the genes encoding tum- transplantation antigens P91A, P35B, and P198". Immunogenetics. 35 (5): 316–23. doi:10.1007/bf00189894. PMID 1348494. S2CID 9048773.
7. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
8. ^ "Entrez Gene: TSTA3 tissue specific transplantation antigen P35B".

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Roos C, Kolmer M, Mattila P, Renkonen R (2002). "Composition of Drosophila melanogaster proteome involved in fucosylated glycan metabolism". J. Biol. Chem. 277 (5): 3168–75. doi:10.1074/jbc.M107927200. PMID 11698403.
• Sullivan FX, Kumar R, Kriz R, et al. (1998). "Molecular cloning of human GDP-mannose 4,6-dehydratase and reconstitution of GDP-fucose biosynthesis in vitro". J. Biol. Chem. 273 (14): 8193–202. doi:10.1074/jbc.273.14.8193. PMID 9525924.
• Tonetti M, Sturla L, Bisso A, et al. (1996). "Synthesis of GDP-L-fucose by the human FX protein". J. Biol. Chem. 271 (44): 27274–9. doi:10.1074/jbc.271.44.27274. PMID 8910301.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human GDP-L-fucose synthase

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