SLC35C1

SLC35C1
Identifiers
Aliases	SLC35C1, CDG2C, FUCT1, solute carrier family 35 member C1
External IDs	OMIM: 605881 MGI: 2443301 HomoloGene: 41258 GeneCards: SLC35C1
Gene location (Human)
Chr.	Chromosome 11 (human)
End	45,813,016 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	92,290,883 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; minor salivary glands; ; stromal cell of endometrium; ; subcutaneous adipose tissue; ; pancreatic ductal cell; ; duodenum; ; pylorus; ; oral cavity; ; gallbladder; ; rectum;
	Top expressed in
	colon; ; left colon; ; pyloric antrum; ; epithelium of stomach; ; lacrimal gland; ; crypt of lieberkuhn of small intestine; ; yolk sac; ; duodenum; ; mucous cell of stomach; ; jejunum;
	More reference expression data
	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
	55343
	228368
	ENSG00000181830
	ENSMUSG00000049922
	Q96A29
	Q8BLX4
	NM_001145265; NM_001145266; NM_018389
	NM_145832; NM_211358
	NP_001138737; NP_001138738; NP_060859
	NP_665831; NP_997597
	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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000181830 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000049922 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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".

External links

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

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000181830 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11326279-5] 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.

[pmid11326280-6] 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.

[entrez-7] "Entrez Gene: SLC35C1 solute carrier family 35, member C1".

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[3]

[4]

[5]

[6]

[7]

See also

References

Further reading

External links