SLCtables

SLC35C1

Protein name: FUCT1 Aliases: FLJ11320, FLJ14841 Substrates: GDP-fucose Transport type: Exchanger / GMP Tissue and cellular expression: ubiquitous Subcellular expression: Golgi Disease: congenital disorder of glycosylation IIc Locus: 11p11.2 Sequence ID: NP_001138737.1, NM_001145265.1 NP_001138738.1, NM_001145266.1 NP_060859.4, NM_018389.4 Gene ID: 55343 Splice variants: N/D

FUCT1_HUMAN (UniProt)

Gene names: SLC35C1, FUCT1
Protein names and data: FUCT1_HUMAN, Full=GDP-fucose transporter 1, Full=Solute carrier family 35 member C1; Length: 364 a.a., Mass: 39809 Da,
fasta formatted sequence
Function: Involved in GDP-fucose import from the cytoplasm into the Golgi lumen
Disease: (OMIM: 266265 605881) Defects in SLC35C1 are the cause of congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]; also known as leukocyte adhesion deficiency type II (LAD2). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands
Cellular location: Golgi apparatus membrane; Multi-pass membrane protein

Database cross-references

UniProt: Q96A29
NextBio: 59671
OMIM: 266265 605881
Ensembl: ENST00000314134
GeneCard: GC11P045814
TCDB: 2.A.7.16.1
PharmGenUCSF: SLC35C1
Guide to Pharmacology: SLC35C1 (1147)
SLC35 family of nucleotide sugar transporters (1147)
HGNC: HGNC:20197

Genetic variants

See also Ensembl:ENST00000314134

49 - 49 W -> S (in dbSNP:rs11538193). VAR_057302 11538193
147 - 147 R -> C (in CDG2C; dbSNP:rs28939087). VAR_012347 28939087
240 - 240 I -> V (in dbSNP:rs7130656). VAR_057303 7130656
308 - 308 T -> R (in CDG2C; dbSNP:rs28937886). VAR_012348 28937886