SLC18B1: Solute Carrier Family 18 Member B1
A vesicular transporter with potential roles in neurotransmitter storage and cancer biology
Gene Information Card
| Symbol | SLC18B1 |
|---|---|
| Full Name | solute carrier family 18 member B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 219654 ncbi.nlm.nih.gov/gene/219654 |
| Ensembl ID | ENSG00000146109 |
| UniProt ID | Q6NT16 |
| OMIM ID | 616916 |
| HGNC ID | 28388 |
| Aliases | C6orf192, dJ55C23.6, FLJ22662 |
Description
SLC18B1 (solute carrier family 18 member B1) is a protein-coding gene located on chromosome 6q22.33. It encodes a member of the solute carrier 18 family of vesicular transporters, which are involved in the transport of small molecules such as neurotransmitters into synaptic vesicles. SLC18B1 is predicted to function as a vesicular transporter, though its specific substrate remains to be fully characterized. The gene is expressed in multiple tissues, with notable levels in the brain, and has been implicated in cancer biology through expression and mutation studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and somatic mutations may affect vesicular transport and cellular signaling | COSMIC, ClinVar |
| Neurodevelopmental disorders (potential) | Homology to vesicular monoamine transporters suggests possible role in neurotransmitter storage | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Moderate expression |
| HEK293 (embryonic kidney) | 10.2 | Moderate expression |
| HepG2 (liver cancer) | 5.8 | Low expression |
| A549 (lung cancer) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | missense | <0.01% | Unknown functional effect |
| c.452G>A (p.Arg151His) | missense | <0.01% | Unknown functional effect |
| c.788T>C (p.Ile263Thr) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
| • GO:0005215 - transporter activity | • GO:0015293 - symporter activity |
| • GO:0016021 - integral component of membrane | • GO:0006810 - transport |
| • GO:0055085 - transmembrane transport |
Pathways
• Vesicular transport (Reactome: R-HSA-5653656)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
The SLC18B1 protein (UniProt Q6NT16) is a predicted vesicular transporter with 10 transmembrane domains, belonging to the solute carrier family 18. It shares structural homology with vesicular monoamine transporters (VMATs) but its specific substrate remains unknown. The protein is localized to intracellular vesicle membranes and is thought to mediate the uptake of small molecules into vesicles, potentially influencing neurotransmitter storage and release. Expression data suggest a role in the brain and in cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC18B1 Knockout HEK293 Cell Line | EDJ-KQ7584 | Human | 116843 | Details Get a Quote |
| SLC18B1 Knockout A-549 Cell Line | EDJ-KQ32908 | Human | 116843 | Details Get a Quote |
| SLC18B1 Knockout HCT 116 Cell Line | EDC08602 | Human | 116843 | Details Get a Quote |
| SLC18B1 Knockout HeLa Cell Line | EDJ-KQ32910 | Human | 116843 | Details Get a Quote |
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