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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC35A1
solute carrier family 35 member A1
Chromosome 6 · 6q15
NCBI Gene: 10559Ensembl: ENSG00000164414.20HGNC: HGNC:11021UniProt: P78382
46PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
CMP-N-acetylneuraminate transmembrane transportprotein bindingantiporter activityGolgi membraneSLC35A1-congenital disorder of glycosylationcongenital disorder of glycosylationatrial fibrillationcongenital disorder of glycosylation type II
✦AI Summary

SLC35A1 encodes a CMP-sialic acid transporter that functions as an antiporter, exchanging CMP-sialic acid for CMP and other pyrimidine nucleotides (AMP, UMP) to facilitate transport of CMP-sialic acid from the cytosol into the Golgi apparatus 123. The transporter contains three substrate-binding pockets—nucleobase, middle, and sugar pockets—with specific residues including Y214 in the nucleobase pocket critical for discriminating cytosine from uracil 4. SLC35A1 is essential for sialylation, the terminal glycosylation of proteins and lipids, which impacts multiple biological processes including receptor expression and viral susceptibility 56. Mutations in SLC35A1 cause congenital disorder of glycosylation 2F (SLC35A1-CDG), characterized by altered cellular glycosylation, lipid, and energy metabolism even when serum CDG markers appear normal 6. The transporter plays a critical role in viral pathogenesis: SLC35A1 knockout reduces surface sialic acid expression, decreasing susceptibility to influenza A virus, porcine deltacoronavirus, Newcastle disease virus, and porcine epidemic diarrhea virus by impairing viral adsorption and entry 78910. Additionally, SLC35A1 deficiency causes thrombocytopenia through impaired megakaryocytopoiesis and increased platelet clearance 5, and SLC35A1 knockout enhances AAV9 transduction efficiency by unmasking terminal galactose receptors 11.

Sources cited
1
The transporter contains three substrate-binding pockets—nucleobase, middle, and sugar pockets—with specific residues including Y214 in the nucleobase pocket critical for discriminating cytosine from uracil .
PMID: 34384782
2
SLC35A1 is essential for sialylation, the terminal glycosylation of proteins and lipids, which impacts multiple biological processes including receptor expression and viral susceptibility , .
PMID: 40613041
3
SLC35A1 is essential for sialylation, the terminal glycosylation of proteins and lipids, which impacts multiple biological processes including receptor expression and viral susceptibility , .
PMID: 32303557
4
Additionally, SLC35A1 deficiency causes thrombocytopenia through impaired megakaryocytopoiesis and increased platelet clearance , and SLC35A1 knockout enhances AAV9 transduction efficiency by unmasking terminal galactose receptors .
PMID: 34069698
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
SLC35A1-congenital disorder of glycosylationOpen Targets
0.79Strong
congenital disorder of glycosylationOpen Targets
0.48Moderate
atrial fibrillationOpen Targets
0.41Moderate
congenital disorder of glycosylation type IIOpen Targets
0.37Weak
SRD5A3-congenital disorder of glycosylationOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
MacrothrombocytopeniaOpen Targets
0.19Weak
hemorrhageOpen Targets
0.19Weak
SeizureOpen Targets
0.18Weak
melanomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
tauopathyOpen Targets
0.05Suggestive
gestational diabetesOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
SepsisOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
nail-patella syndromeOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
Congenital disorder of glycosylation 2FUniProt
Pathogenic Variants4
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)Pathogenic
SLC35A1-congenital disorder of glycosylation
☆☆☆☆2022→ Residue 147
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)Pathogenic
SLC35A1-congenital disorder of glycosylation
☆☆☆☆2018→ Residue 101
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)Pathogenic
SLC35A1-congenital disorder of glycosylation
☆☆☆☆2018→ Residue 156
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)Pathogenic
SLC35A1-congenital disorder of glycosylation
☆☆☆☆2018→ Residue 196
View on ClinVar ↗
Related Genes
SLC35D2Protein interaction93%SLC35D3Protein interaction92%SLC35C1Protein interaction76%PMM2Protein interaction75%ADGRL1Protein interaction73%NANSProtein interaction72%
Tissue Expression6 tissues
Lung
100%
Liver
99%
Ovary
80%
Heart
69%
Brain
64%
Bone Marrow
54%
Gene Interaction Network
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SLC35A1SLC35D2SLC35D3SLC35C1PMM2ADGRL1NANS
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P78382
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.45 [0.30–0.68]
RankingsWhere SLC35A1 stands among ~20K protein-coding genes
  • #9,381of 20,598
    Most Researched46
  • #3,800of 5,498
    Most Pathogenic Variants4
  • #5,087of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSLC35A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide CRISPR/Cas9 Screen Identifies Host Factors Essential for Influenza Virus Replication.
PMID: 29642015
Cell Rep · 2018
1.00
2
Genome-Wide CRISPR/Cas9 Screen Reveals a Role for SLC35A1 in the Adsorption of Porcine Deltacoronavirus.
PMID: 36453883
J Virol · 2022
0.90
3
A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.
PMID: 40613041
Hum Mutat · 2025
0.80
4
PMID: 20301507
0.70
5
Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays.
PMID: 34069698
Cells · 2021
0.60