SLC35C1 Gene: GDP-Fucose Transporter, Congenital Disorder of Glycosylation Type IIc (Leukocyte Adhesion Deficiency II)
SLC35C1 encodes the Golgi GDP-fucose transporter, critical for fucosylation. Mutations cause Congenital Disorder of Glycosylation Type IIc (CDG IIc), also known as Leukocyte Adhesion Deficiency II (LAD II), characterized by recurrent infections, developmental delay, and Bombay blood group phenotype.
Gene Information Card
| Symbol | SLC35C1 |
|---|---|
| Full Name | Solute carrier family 35 member C1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 55343 ncbi.nlm.nih.gov/gene/55343 |
| Ensembl ID | ENSG00000181830 |
| UniProt ID | Q96A29 |
| OMIM ID | 605881 |
| HGNC ID | 20197 |
| Aliases | FUCT1, FLJ11330, MGC26243 |
Description
The SLC35C1 gene encodes a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. The encoded protein is a GDP-fucose transporter localized to the Golgi apparatus, where it imports GDP-fucose from the cytosol into the Golgi lumen for use in fucosylation of glycoproteins and glycolipids. Fucosylation is essential for various biological processes including cell adhesion, immune response, and blood group antigen synthesis. Mutations in this gene result in Congenital Disorder of Glycosylation Type IIc (CDG IIc), also known as Leukocyte Adhesion Deficiency II (LAD II), characterized by recurrent bacterial infections, severe developmental delay, and the Bombay blood group phenotype.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Congenital Disorder of Glycosylation Type IIc (CDG IIc) / Leukocyte Adhesion Deficiency II (LAD II) | Loss-of-function mutations in SLC35C1 impair GDP-fucose transport into the Golgi, leading to defective fucosylation of glycoconjugates. This results in absence of sialyl-Lewis X (CD15s) on neutrophils, causing defective leukocyte rolling and extravasation, and absence of H antigen on red blood cells (Bombay phenotype). | OMIM #266265; ClinVar; multiple case reports (e.g., Lühn et al., 2001; Marquardt et al., 1999) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Bone marrow | 12.4 | Low |
| Lymph node | 10.1 | Low |
| Spleen | 8.7 | Low |
| Small intestine | 7.9 | Low |
| Colon | 6.8 | Low |
| Kidney | 5.2 | Low |
| Liver | 4.1 | Low |
| Brain | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| THP-1 (monocyte) | 15.2 | Moderate expression |
| K-562 (leukemia) | 12.8 | Moderate |
| HeLa (cervical) | 8.3 | Low |
| A549 (lung) | 6.1 | Low |
| HepG2 (liver) | 4.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.604C>T (p.Arg202Ter) | Nonsense | Rare (found in CDG IIc patients) | Premature stop codon, loss of function |
| c.923G>A (p.Arg308His) | Missense | Rare (found in CDG IIc patients) | Impaired GDP-fucose transport |
| c.121G>A (p.Gly41Ser) | Missense | Rare (found in CDG IIc patients) | Reduced transporter activity |
| c.439C>T (p.Arg147Trp) | Missense | Rare (found in CDG IIc patients) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC35C1 mutations are loss-of-function, leading to reduced or absent GDP-fucose transport into the Golgi, causing defective fucosylation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC35C1.
Dominant Negative (DN)
No dominant-negative effects have been described; the disorder is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • GDP-fucose transmembrane transporter activity | • Golgi membrane |
| • fucose transport | • protein glycosylation |
| • carbohydrate metabolic process |
Pathways
• Fucose metabolism
• N-glycan biosynthesis
• O-glycan biosynthesis
• Glycosphingolipid biosynthesis
• Leukocyte extravasation signaling
Protein Summary
The SLC35C1 protein (UniProt Q96A29) is a 364-amino-acid multi-pass transmembrane protein with 10 predicted transmembrane helices. It localizes to the Golgi apparatus and functions as an antiporter, exchanging GDP-fucose for GMP. It is a member of the nucleotide sugar transporter family. Defects in this protein lead to CDG IIc/LAD II.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35C1 Knockout HEK293 Cell Line | EDJ-KQ15327 | Human | 55343 | Details Get a Quote |
| SLC35C1 Knockout A-549 Cell Line | EDJ-KQ46040 | Human | 55343 | Details Get a Quote |
| SLC35C1 Knockout HCT 116 Cell Line | EDJ-KQ46041 | Human | 55343 | Details Get a Quote |
| SLC35C1 Knockout HeLa Cell Line | EDJ-KQ46042 | Human | 55343 | Details Get a Quote |
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