SLC46A3: Solute Carrier Family 46 Member 3
A lysosomal transporter implicated in drug resistance and metabolic processes.
Gene Information Card
| Symbol | SLC46A3 |
|---|---|
| Full Name | Solute Carrier Family 46 Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 283537 ncbi.nlm.nih.gov/gene/283537 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q7Z4N2 |
| OMIM ID | 616956 |
| HGNC ID | 28380 |
| Aliases | MFSD7, FLJ38663 |
Description
SLC46A3 encodes a member of the solute carrier family 46, a lysosomal transporter. The protein is involved in the transport of small molecules across lysosomal membranes and has been implicated in resistance to certain chemotherapeutic agents, such as antibody-drug conjugates. It is also associated with metabolic processes and may play a role in lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Drug resistance (cancer) | Loss of SLC46A3 function reduces lysosomal drug sequestration, leading to decreased efficacy of antibody-drug conjugates | PMID: 28490518 |
| Metabolic disorders | Potential role in lysosomal storage or transport defects; not yet confirmed in human disease | Inferred from function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Spleen | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| K562 | 3.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SLC46A3 are associated with reduced lysosomal transport and altered drug sensitivity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015293 - symporter activity | • GO:0005764 - lysosome |
| • GO:0055085 - transmembrane transport | • GO:0016021 - integral component of membrane |
Pathways
• Lysosomal transport
• Drug resistance (antibody-drug conjugate)
Protein Summary
SLC46A3 is a 12-transmembrane domain lysosomal transporter protein. It functions as a proton-coupled symporter, facilitating the export of small molecules from the lysosome. Its expression is highest in liver and kidney. Loss of SLC46A3 function has been linked to resistance to antibody-drug conjugates in cancer cells, likely due to reduced lysosomal drug accumulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC46A3 Knockout HEK293 Cell Line | EDC07967 | Human | 283537 | Details Get a Quote |
| SLC46A3 Knockout A-549 Cell Line | EDJ-KQ23854 | Human | 283537 | Details Get a Quote |
| SLC46A3 Knockout HCT 116 Cell Line | EDJ-KQ23855 | Human | 283537 | Details Get a Quote |
| SLC46A3 Knockout HeLa Cell Line | EDJ-KQ23856 | Human | 283537 | Details Get a Quote |
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