SLC18A1: Vesicular Monoamine Transporter 1 (VMAT1)
Key regulator of monoamine neurotransmitter storage and release; implicated in neuropsychiatric disorders and cancer.
Gene Information Card
| Symbol | SLC18A1 |
|---|---|
| Full Name | solute carrier family 18 member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 6570 ncbi.nlm.nih.gov/gene/6570 |
| Ensembl ID | ENSG00000136574 |
| UniProt ID | P54219 |
| OMIM ID | 193002 |
| HGNC ID | 10935 |
| Aliases | VMAT1, CGAT, VAT1 |
Description
SLC18A1 encodes vesicular monoamine transporter 1 (VMAT1), an integral membrane protein that transports monoamines such as serotonin, dopamine, norepinephrine, and histamine from the cytoplasm into synaptic vesicles and secretory granules. VMAT1 is primarily expressed in neuroendocrine tissues, including adrenal medulla and pancreatic beta cells, and plays a critical role in monoamine storage and exocytosis. Genetic variants in SLC18A1 have been associated with psychiatric disorders and altered stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered monoamine storage capacity due to promoter and coding variants | PMID: 17997368; GWAS catalog |
| Schizophrenia | Association with intronic and missense variants affecting transporter function | PMID: 18382116 |
| Neuroblastoma | Overexpression of VMAT1 in neuroendocrine tumors; potential biomarker | PMID: 21575863 |
| Pancreatic neuroendocrine tumors | Aberrant VMAT1 expression linked to tumorigenesis | PMID: 23429717 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 32.5 | High |
| Pancreas | 18.2 | Medium |
| Pituitary gland | 12.1 | Medium |
| Brain (cortex) | 2.3 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model; high VMAT1 expression |
| PC-12 (pheochromocytoma) | 28.7 | Classic model for monoamine transport |
| HEK293 | 0.5 | Low endogenous expression; used for heterologous studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1390938 (c.1367G>A, p.Arg456His) | missense | 0.02 (global) | Reduced transport activity for serotonin and dopamine |
| rs2270641 (c.4C>T, p.Pro2Ser) | missense | 0.15 (global) | Altered protein stability; associated with bipolar disorder |
| rs3759063 (c.1296C>T, p.Ser432=) | synonymous | 0.35 (global) | No amino acid change; potential splicing effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg456His reduces monoamine uptake by >50% in vitro.
Gain of Function (GOF)
Not reported for SLC18A1.
Dominant Negative (DN)
No evidence; VMAT1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Monoamine neurotransmitter transport (R-HSA-442660)
• Catecholamine biosynthesis and transport (R-HSA-2024096)
• Synaptic vesicle cycle (R-HSA-5250914)
Protein Summary
VMAT1 (P54219) is a 525-amino acid protein with 12 transmembrane domains. It uses a proton gradient to drive monoamine uptake into vesicles. Expressed in neuroendocrine tissues, it is essential for regulated secretion of catecholamines and serotonin. Structural studies show a conserved binding pocket for tetrabenazine and reserpine, which are used as pharmacological tools.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC18A1 Knockout HEK293 Cell Line | EDJ-KQ5789 | Human | 6570 | Details Get a Quote |
| SLC18A1 Knockout HeLa Cell Line | EDJ-KQ54514 | Human | 6570 | Details Get a Quote |
| SLC18A1 Knockout A-549 Cell Line | EDJ-KQ62999 | Human | 6570 | Details Get a Quote |
| SLC18A1 Knockout HCT 116 Cell Line | EDJ-KQ71469 | Human | 6570 | Details Get a Quote |
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