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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC35C1
solute carrier family 35 member C1
Chromosome 11 Β· 11p11.2
NCBI Gene: 55343Ensembl: ENSG00000181830.10HGNC: HGNC:20197UniProt: B3KQH0
33PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GDP-fucose import into Golgi lumenGolgi apparatusGDP-fucose transmembrane transporter activityprotein bindingleukocyte adhesion deficiency type IIcongenital disorder of glycosylationneurodegenerative diseaseAlzheimer disease
✦AI Summary

SLC35C1 is a GDP-fucose antiporter that mediates the transport of GDP-L-fucose into the Golgi lumen while returning GMP to the cytoplasm 1. This transporter is essential for protein fucosylation, a critical post-translational modification that affects glycan-dependent cellular functions 2. Mechanistically, SLC35C1 facilitates the fucosylation of adhesion molecules and other glycoproteins required for proper immune cell function and cell-cell interactions 3. In cholestatic liver disease, elevated hepatic SLC35C1 expression is induced by bile acid-stimulated STAT3 signaling, where it enhances CEACAM1 fucosylation at N153 to suppress inflammatory chemokine (CCL2, CXCL2) expression and attenuate liver injury 1. Mutations in SLC35C1 cause leukocyte adhesion deficiency type II (LAD II), a congenital disorder of glycosylation characterized by immunodeficiency, growth impairment, and recurrent infections 3. Oral L-fucose supplementation can improve immune function and cognition in patients with milder variants 3. Beyond immune dysfunction, SLC35C1 expression correlates with tumor microenvironment composition, immune infiltration, and prognosis across multiple cancer types, with experimental evidence suggesting roles in glioma cell proliferation and migration 4. Clinically, SLC35C1-CDG is one of the few CDG types with available targeted therapy, making it a therapeutic priority among glycosylation disorders 56.

Sources cited
1
SLC35C1 transports GDP-fucose into the Golgi and its hepatic expression increases during cholestasis via STAT3 signaling to promote CEACAM1 fucosylation and suppress inflammatory responses
PMID: 38985995
2
SLC35C1 is the primary transporter of GDP-fucose to the Golgi apparatus; loss of SLC35C1 affects enzyme levels in GDP-fucose biosynthesis pathways
PMID: 40421778
3
SLC35C1 mutations cause LAD II with severe or mild variants; oral fucose therapy improves speech, cognition, and CD15 expression in some patients
PMID: 35338746
4
SLC35C1 expression correlates with tumor microenvironment, immune infiltration, and survival across cancers; knockdown inhibits glioma cell proliferation and migration
PMID: 37005450
5
SLC35C1-CDG is one of only two CDG types with targeted therapy available for treating immune defects
PMID: 31095764
6
Fucose dietary supplementation is a potentially curative therapy for SLC35C1-CDG
PMID: 29702557
7
SLC35C1 is required for O-fucosylation of Notch receptors; loss causes reduced fucosylation and developmental abnormalities
PMID: 38270391
8
SLC35C1 inactivation in CHO cells produces fucose-free antibodies with enhanced Fc receptor binding and cytotoxicity without affecting cell growth or productivity
PMID: 26471004
Disease Associationsβ“˜21
leukocyte adhesion deficiency type IIOpen Targets
0.81Strong
congenital disorder of glycosylationOpen Targets
0.64Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.37Weak
congenital disorder of glycosylation type IIOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.27Weak
retinopathyOpen Targets
0.22Weak
gastric cancerOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.06Suggestive
depressive disorderOpen Targets
0.05Suggestive
pyknoachondrogenesisOpen Targets
0.05Suggestive
cholestasisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Congenital disorder of glycosylation 2CUniProt
Pathogenic Variants10
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)Pathogenic
not provided|Leukocyte adhesion deficiency type II
β˜…β˜…β˜†β˜†2022β†’ Residue 314
NM_018389.5(SLC35C1):c.69dup (p.Ala24fs)Pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2025β†’ Residue 24
NM_018389.5(SLC35C1):c.267del (p.Gly90fs)Pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2025β†’ Residue 90
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)Pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2023β†’ Residue 260
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)Likely pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2021β†’ Residue 147
NM_018389.5(SLC35C1):c.367del (p.Val123fs)Pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2019β†’ Residue 123
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)Pathogenic
not provided|Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†2012β†’ Residue 31
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)Pathogenic
Leukocyte adhesion deficiency type II
β˜…β˜†β˜†β˜†β†’ Residue 297
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)Pathogenic
Leukocyte adhesion deficiency type II
β˜†β˜†β˜†β˜†2002β†’ Residue 308
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg)Likely pathogenic
Leukocyte adhesion deficiency type II
β˜†β˜†β˜†β˜†β†’ Residue 296
View on ClinVar β†—
Related Genes
RAPGEF5Protein interaction84%FUT8Protein interaction83%B4GALT1Protein interaction83%MAN2A2Protein interaction83%MAN2A1Protein interaction83%GMDSProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Lung
16%
Heart
10%
Ovary
9%
Brain
6%
Bone Marrow
3%
Gene Interaction Network
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SLC35C1RAPGEF5FUT8B4GALT1MAN2A2MAN2A1GMDS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96A29
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.58Intermediate
Observed/Expected LoF0.37 [0.21–0.66]
RankingsWhere SLC35C1 stands among ~20K protein-coding genes
  • #11,413of 20,598
    Most Researched33
  • #2,885of 5,498
    Most Pathogenic Variants10
  • #4,877of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSLC35C1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hepatic GDP-fucose transporter SLC35C1 attenuates cholestatic liver injury and inflammation by inducing CEACAM1 N153 fucosylation.
PMID: 38985995
Hepatology Β· 2025
1.00
2
Inactivation of GDP-fucose transporter gene (Slc35c1) in CHO cells by ZFNs, TALENs and CRISPR-Cas9 for production of fucose-free antibodies.
PMID: 26471004
Biotechnol J Β· 2016
0.90
3
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
PMID: 35338746
Am J Med Genet A Β· 2022
0.80
4
PMID: 20301507
0.70
5
Systematic pan-cancer analysis identifies SLC35C1 as an immunological and prognostic biomarker.
PMID: 37005450
Sci Rep Β· 2023
0.60