SLC35A1 (Solute Carrier Family 35 Member A1) - CMP-Sialic Acid Transporter
A critical nucleotide sugar transporter involved in sialylation, with implications in hematological disorders and cancer.
Gene Information Card
| Symbol | SLC35A1 |
|---|---|
| Full Name | Solute carrier family 35 member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 10543 ncbi.nlm.nih.gov/gene/10543 |
| Ensembl ID | ENSG00000104970 |
| UniProt ID | P78382 |
| OMIM ID | 605634 |
| HGNC ID | 11001 |
| Aliases | CMP-Sia transporter, CST, CMPST, SLC35A1 |
Description
SLC35A1 encodes a transmembrane protein localized to the Golgi apparatus that transports cytidine monophosphate-sialic acid (CMP-sialic acid) from the cytosol into the Golgi lumen. This transport is essential for the sialylation of glycoproteins and glycolipids, a post-translational modification critical for cell-cell interactions, immune function, and stability of circulating proteins. Mutations in SLC35A1 cause congenital disorder of glycosylation type IIf (CDG IIf), characterized by severe bleeding disorder and macrothrombocytopenia. The gene is also implicated in cancer progression and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Congenital disorder of glycosylation type IIf (CDG IIf) | Loss-of-function mutations in SLC35A1 impair CMP-sialic acid transport, leading to hyposialylation of glycoproteins, particularly on platelets, causing thrombocytopenia and bleeding. | ClinVar, OMIM |
| Macrothrombocytopenia | Defective sialylation of platelet glycoproteins (e.g., GPIbα) leads to reduced negative charge and altered platelet clearance, resulting in enlarged platelets and thrombocytopenia. | ClinVar, OMIM |
| Cancer (various types) | Altered SLC35A1 expression affects sialylation of tumor cell surface molecules, influencing metastasis and immune evasion. Overexpression has been noted in some cancers. | COSMIC, PubMed |
| Viral infections (e.g., influenza) | Sialic acid on host cell surface is a receptor for influenza virus; SLC35A1-mediated sialylation is required for viral entry, and its modulation may affect susceptibility. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Bone Marrow | 25.3 | Medium |
| Spleen | 20.1 | Medium |
| Lung | 15.7 | Low |
| Liver | 12.4 | Low |
| Brain | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| K-562 (leukemia) | 30.5 | High expression; consistent with hematopoietic lineage. |
| HeLa (cervical cancer) | 18.2 | Moderate expression. |
| A549 (lung cancer) | 12.8 | Low expression. |
| HepG2 (liver cancer) | 10.1 | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.574C>T (p.Arg192Ter) | Nonsense | Rare (found in CDG IIf patients) | Premature stop codon leading to truncated non-functional protein. |
| c.647G>A (p.Arg216His) | Missense | Rare (found in CDG IIf patients) | Amino acid substitution affecting transporter function. |
| c.1042C>T (p.Arg348Cys) | Missense | Rare (found in CDG IIf patients) | Impaired CMP-sialic acid transport. |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of translation initiation, likely null allele. |
Mutation functional classification
Loss of Function (LOF)
Most SLC35A1 mutations are loss-of-function, leading to reduced or absent CMP-sialic acid transport, causing hyposialylation and CDG IIf.
Gain of Function (GOF)
No gain-of-function mutations have been reported; overexpression in cancer may be considered a gain-of-function at the expression level, but not due to mutation.
Dominant Negative (DN)
No dominant-negative mutations have been described; the disease is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • CMP-sialic acid transmembrane transporter activity | • Golgi membrane |
| • Sialic acid transport | • Protein glycosylation |
| • Carbohydrate metabolic process |
Pathways
• Sialic acid metabolism
• N-glycan biosynthesis
• O-glycan biosynthesis
• Glycosphingolipid biosynthesis
Protein Summary
The SLC35A1 protein is a 337-amino acid multi-pass transmembrane protein with 10 predicted transmembrane helices. It localizes to the Golgi apparatus and functions as an antiporter, importing CMP-sialic acid into the Golgi lumen in exchange for CMP. It is a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. The protein is essential for proper sialylation of glycoconjugates, and its deficiency leads to severe bleeding disorders. Structural studies suggest a homodimeric organization, and the protein's activity is regulated by its interaction with other Golgi proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35A1 Knockout HEK293 Cell Line | EDJ-KQ2703 | Human | 10559 | Details Get a Quote |
| SLC35A1 Knockout A-549 Cell Line | EDJ-KQ23541 | Human | 10559 | Details Get a Quote |
| SLC35A1 Knockout HCT 116 Cell Line | EDJ-KQ23542 | Human | 10559 | Details Get a Quote |
| SLC35A1 Knockout HeLa Cell Line | EDJ-KQ23543 | Human | 10559 | Details Get a Quote |
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