GDP-fucose transporter 1

SLC35C1
Identifiers
Aliases	SLC35C1 , CDG2C, FUCT1, solute carrier family 35 member C1
External IDs	OMIM: 605881; MGI: 2443301; HomoloGene: 41258; GeneCards: SLC35C1; OMA:SLC35C1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p11.2 Start 45,804,072 bp [1] End 45,813,016 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 E1 Start 92,283,109 bp [2] End 92,290,883 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver mucosa of transverse colon minor salivary glands stromal cell of endometrium mucosa of pharynx mucosa of ileum subcutaneous adipose tissue buccal mucosa cell granulocyte gonad Top expressed in colon left colon pyloric antrum epithelium of stomach lacrimal gland crypt of lieberkuhn of small intestine yolk sac granulocyte duodenum mucous cell of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GDP-fucose transmembrane transporter activity antiporter activity transmembrane transporter activity Cellular component integral component of membrane Golgi membrane Golgi apparatus membrane Biological process lipid glycosylation negative regulation of Notch signaling pathway carbohydrate transport GDP-fucose import into Golgi lumen protein O-linked fucosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55343 228368 Ensembl ENSG00000181830 ENSMUSG00000049922 UniProt Q96A29 Q8BLX4 RefSeq (mRNA) NM_001145265 NM_001145266 NM_018389 NM_145832 NM_211358 RefSeq (protein) NP_001138737 NP_001138738 NP_060859 NP_665831 NP_997597 Location (UCSC) Chr 11: 45.8 – 45.81 Mb Chr 2: 92.28 – 92.29 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

GDP-fucose transporter 1 is a protein that in humans is encoded by the SLC35C1 gene. ^{[5] [6] [7]}

Defects can be associated with Congenital disorder of glycosylation type IIc.

See also

• Solute carrier family
• EamA

References

1. GRCh38: Ensembl release 89: ENSG00000181830 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049922 – 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. 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.
6. 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.
7. "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. Bibcode:2002PNAS...9916899M. 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

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

This article incorporates text from the United States National Library of Medicine, which is in the public domain.