SLC48A1 (Solute Carrier Family 48 Member 1)
Heme Transporter and Iron Metabolism Regulator
Gene Information Card
| Symbol | SLC48A1 |
|---|---|
| Full Name | Solute Carrier Family 48 Member 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 55652 ncbi.nlm.nih.gov/gene/55652 |
| Ensembl ID | ENSG00000135423 |
| UniProt ID | Q6P1K1 |
| OMIM ID | 610793 |
| HGNC ID | 26057 |
| Aliases | HRG1, FLJ20333 |
Description
SLC48A1 encodes the heme transporter HRG1, a transmembrane protein that mediates the transport of heme from phagolysosomes into the cytoplasm. It is essential for iron recycling from senescent red blood cells and plays a critical role in systemic iron homeostasis. Mutations in SLC48A1 can lead to heme transport defects and iron overload disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anemia, hypochromic microcytic, with iron overload | Impaired heme transport leads to defective iron recycling and accumulation of iron in tissues | OMIM #206100; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Spleen | 15.1 | High |
| Kidney | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 18.4 | High expression |
| HepG2 (liver) | 9.7 | Medium expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.340C>T (p.Arg114*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Reduced heme transport activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair heme transport lead to iron accumulation and anemia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • heme transmembrane transporter activity (GO:0015232) | • heme transport (GO:0015886) |
| • integral component of membrane (GO:0016021) | • iron ion transport (GO:0006826) |
Pathways
• Heme transport (Reactome: R-HSA-917937)
• Iron uptake and transport (Reactome: R-HSA-382551)
Protein Summary
The SLC48A1 protein (HRG1) is a 226-amino acid multi-pass membrane protein localized to the lysosomal membrane. It functions as a heme exporter, translocating heme from the lysosomal lumen to the cytosol. This process is critical for iron recycling in macrophages and erythroid cells. The protein contains four transmembrane domains and is conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC48A1 Knockout HEK293 Cell Line | EDJ-KQ12229 | Human | 55652 | Details Get a Quote |
| SLC48A1 Knockout A-549 Cell Line | EDJ-KQ40990 | Human | 55652 | Details Get a Quote |
| SLC48A1 Knockout HCT 116 Cell Line | EDJ-KQ40991 | Human | 55652 | Details Get a Quote |
| SLC48A1 Knockout HeLa Cell Line | EDJ-KQ40992 | Human | 55652 | Details Get a Quote |
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