SLC11A1: Solute Carrier Family 11 Member 1
Natural Resistance-Associated Macrophage Protein 1 (NRAMP1) – Iron Transport and Host Defense
Gene Information Card
| Symbol | SLC11A1 |
|---|---|
| Full Name | Solute Carrier Family 11 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 6556 ncbi.nlm.nih.gov/gene/6556 |
| Ensembl ID | ENSG00000118260 |
| UniProt ID | P49279 |
| OMIM ID | 600266 |
| HGNC ID | 10910 |
| Aliases | NRAMP1, LSH, Nramp1 |
Description
SLC11A1 (solute carrier family 11 member 1), also known as NRAMP1 (natural resistance-associated macrophage protein 1), encodes a divalent metal ion transporter expressed primarily in macrophages and neutrophils. It plays a critical role in iron and manganese transport across phagosomal membranes, influencing antimicrobial activity, inflammatory responses, and susceptibility to infectious and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tuberculosis | Altered iron homeostasis in macrophages impairs killing of Mycobacterium tuberculosis; SLC11A1 polymorphisms linked to susceptibility. | OMIM 600266; NCBI Gene 6556 |
| Leprosy | Variants affect macrophage response to Mycobacterium leprae, influencing disease progression. | OMIM 600266; NCBI Gene 6556 |
| Rheumatoid Arthritis | Dysregulated iron transport in macrophages may contribute to chronic inflammation and joint destruction. | OMIM 600266; NCBI Gene 6556 |
| Crohn's Disease | SLC11A1 polymorphisms associated with altered innate immune response to gut microbiota. | OMIM 600266; NCBI Gene 6556 |
| Visceral Leishmaniasis | Impaired metal ion transport reduces macrophage killing of Leishmania donovani. | OMIM 600266; NCBI Gene 6556 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 18.3 | Medium |
| Liver | 8.7 | Low |
| Bone Marrow | 22.1 | High |
| Whole Blood | 15.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 25.4 | High expression; used in functional studies |
| U937 (macrophage) | 20.1 | High expression; induced by differentiation |
| HeLa (cervical) | 3.2 | Low expression |
| A549 (lung) | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs17235409 (D543N) | SNP | ~10% (global) | Reduced iron transport; associated with tuberculosis susceptibility |
| rs17235416 (3'UTR TGTG deletion) | Deletion | ~15% (global) | Altered mRNA stability; linked to autoimmune disease risk |
| rs2276631 (R313C) | Missense | <1% | Loss of function; rare variant |
Mutation functional classification
Loss of Function (LOF)
rs2276631 (R313C) impairs metal ion transport, reducing macrophage antimicrobial activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in SLC11A1.
Dominant Negative (DN)
Not described for SLC11A1.
View complete mutation data：
Gene Ontology (GO)
| • iron ion transmembrane transporter activity (GO:0005381) | • manganese ion transmembrane transporter activity (GO:0015238) |
| • transport (GO:0006810) | • phagocytosis (GO:0006911) |
| • innate immune response (GO:0045087) | • plasma membrane (GO:0005886) |
| • phagocytic vesicle (GO:0045335) |
Pathways
• Iron metabolism and transport (Reactome: R-HSA-917937)
• Innate immune system (Reactome: R-HSA-168249)
• Metal ion SLC transporters (KEGG: hsa04978)
Protein Summary
SLC11A1 (NRAMP1) is a 550-amino-acid integral membrane protein with 12 transmembrane domains. It functions as a proton-coupled divalent metal ion symporter, transporting Fe2+, Mn2+, and other metals across phagosomal membranes. This activity regulates intraphagosomal metal availability, influencing reactive oxygen species production, bacterial killing, and cytokine signaling. The protein is predominantly expressed in macrophages, neutrophils, and dendritic cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC11A1 Knockout HEK293 Cell Line | EDJ-KQ5781 | Human | 6556 | Details Get a Quote |
| SLC11A1 Knockout HeLa Cell Line | EDJ-KQ54505 | Human | 6556 | Details Get a Quote |
| SLC11A1 Knockout A-549 Cell Line | EDJ-KQ62990 | Human | 6556 | Details Get a Quote |
| SLC11A1 Knockout HCT 116 Cell Line | EDJ-KQ71461 | Human | 6556 | Details Get a Quote |
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