SLC35C1
| Solute carrier family 35 (GDP-fucose transporter), member C1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SLC35C1 ; CDG2C; FUCT1 | ||||||||||||
| External IDs | OMIM: 605881 MGI: 2443301 HomoloGene: 41258 IUPHAR: 1147 GeneCards: SLC35C1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55343 | 228368 | |||||||||||
| Ensembl | ENSG00000181830 | ENSMUSG00000049922 | |||||||||||
| UniProt | Q96A29 | Q8BLX4 | |||||||||||
| RefSeq (mRNA) | NM_001145265 | NM_145832 | |||||||||||
| RefSeq (protein) | NP_001138737 | NP_665831 | |||||||||||
| Location (UCSC) | Chr 11: 45.83 – 45.83 Mb | Chr 2: 92.45 – 92.46 Mb | |||||||||||
| PubMed search | |||||||||||||
GDP-fucose transporter 1 is a protein that in humans is encoded by the SLC35C1 gene.[1][2][3]
Defects can be associated with Congenital disorder of glycosylation type IIc.
See also
References
- ↑ Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D (Apr 2001). "The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter". Nat Genet 28 (1): 69–72. doi:10.1038/88289. PMID 11326279.
- ↑ Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (Apr 2001). "Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency". Nat Genet 28 (1): 73–6. doi:10.1038/88299. PMID 11326280.
- ↑ "Entrez Gene: SLC35C1 solute carrier family 35, member C1".
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Hidalgo A, Ma S, Peired AJ et al. (2003). "Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene". Blood 101 (5): 1705–12. doi:10.1182/blood-2002-09-2840. PMID 12406889.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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.
- 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.
- Helmus Y, Denecke J, Yakubenia S et al. (2006). "Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter". Blood 107 (10): 3959–66. doi:10.1182/blood-2005-08-3334. PMID 16455955.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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