SLC35E1: Solute Carrier Family 35 Member E1
A nucleotide-sugar transporter with emerging roles in cellular glycosylation and disease association.
Gene Information Card
| Symbol | SLC35E1 |
|---|---|
| Full Name | Solute carrier family 35 member E1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q96K37 |
| OMIM ID | 610819 |
| HGNC ID | 11021 |
| Aliases | FLJ20291, MGC138499 |
Description
SLC35E1 encodes a member of the solute carrier family 35 (SLC35) of nucleotide-sugar transporters. These proteins are localized to the Golgi apparatus and endoplasmic reticulum membranes and mediate the transport of nucleotide sugars into the lumen for glycosylation reactions. SLC35E1 is predicted to function as a UDP-sugar transporter, though its specific substrate specificity remains under investigation. The gene is widely expressed and has been implicated in cellular glycosylation processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect glycosylation patterns contributing to tumor progression. | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | Dysregulation of SLC35E1 expression observed in liver cancer tissues. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Lung | 8.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
| A549 | 9.5 | Lung carcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104G>A (p.Arg35His) | Missense | <0.01% | Unknown functional effect |
| c.457C>T (p.Pro153Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • UDP-galactose transmembrane transporter activity (GO:0005459) | • nucleotide-sugar transmembrane transport (GO:0015780) |
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
Pathways
• Nucleotide-sugar transport (Reactome: R-HSA-425407)
• Glycosylation (Reactome: R-HSA-597592)
Protein Summary
SLC35E1 is a 338-amino acid multi-pass transmembrane protein localized to the Golgi membrane. It belongs to the triose-phosphate transporter (TPT) subfamily of SLC35 transporters. The protein contains 10 predicted transmembrane helices and is involved in the transport of nucleotide sugars from the cytosol into the Golgi lumen, a critical step for glycoconjugate biosynthesis. Structural studies suggest a conserved substrate-binding pocket, but the exact transported sugar remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35E1 Knockout HEK293 Cell Line | EDJ-KQ14541 | Human | 79939 | Details Get a Quote |
| SLC35E1 Knockout A-549 Cell Line | EDJ-KQ46043 | Human | 79939 | Details Get a Quote |
| SLC35E1 Knockout HCT 116 Cell Line | EDJ-KQ46045 | Human | 79939 | Details Get a Quote |
| SLC35E1 Knockout HeLa Cell Line | EDJ-KQ46046 | Human | 79939 | Details Get a Quote |
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