SLC41A1
Solute Carrier Family 41 Member 1
Gene Information Card
| Symbol | SLC41A1 |
|---|---|
| Full Name | Solute Carrier Family 41 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 254428 ncbi.nlm.nih.gov/gene/254428 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q8IVJ1 |
| OMIM ID | 610801 |
| HGNC ID | 19397 |
| Aliases | MgtE, FLJ20473 |
Description
SLC41A1 encodes a member of the solute carrier family 41, functioning as a magnesium transporter. The protein is involved in cellular magnesium homeostasis and is expressed in various tissues, including kidney and brain. Mutations in SLC41A1 have been associated with Parkinson disease and nephronophthisis-like nephropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease | Impaired magnesium transport leading to mitochondrial dysfunction and oxidative stress | PMID: 21194677, ClinVar |
| Nephronophthisis-like nephropathy | Disruption of renal magnesium handling causing tubular atrophy and fibrosis | PMID: 27884173, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Moderate expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.A350V | Missense | 0.1% in Parkinson disease cohorts | Altered magnesium transport activity |
| p.R129H | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
p.R129H reduces magnesium uptake capacity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion transmembrane transporter activity (GO:0015095) | • magnesium ion transport (GO:0015693) |
| • integral component of membrane (GO:0016021) |
Pathways
• Magnesium transport (Reactome: R-HSA-425393)
Protein Summary
SLC41A1 is a 513-amino acid transmembrane protein with 10 predicted helices, functioning as a Mg2+ efflux system. It is ubiquitously expressed and localizes to the plasma membrane and mitochondria. The protein shares homology with bacterial MgtE transporters.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC41A1 Knockout HEK293 Cell Line | EDJ-KQ11769 | Human | 254428 | Details Get a Quote |
| SLC41A1 Knockout A-549 Cell Line | EDJ-KQ40166 | Human | 254428 | Details Get a Quote |
| SLC41A1 Knockout HCT 116 Cell Line | EDC08646 | Human | 254428 | Details Get a Quote |
| SLC41A1 Knockout HeLa Cell Line | EDJ-KQ40168 | Human | 254428 | Details Get a Quote |
