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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC18A1
solute carrier family 18 member A1
Chromosome 8 · 8p21.3
NCBI Gene: 6570Ensembl: ENSG00000036565.15HGNC: HGNC:10934UniProt: P54219
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serotonin uptakemonoamine:proton antiporter activityserotonin:sodium:chloride symporter activitysynaptic vesicle membranealcohol drinkingnon-Hodgkins lymphomacentral nervous system cancerhidradenitis
✦AI Summary

SLC18A1 encodes the vesicular monoamine transporter 1 (VMAT1), a presynaptic transporter that packages monoamine neurotransmitters including dopamine, noradrenaline, serotonin, and histamine into synaptic vesicles for controlled release 1. The protein functions through proton antiport mechanism, enriching monoamines approximately 10,000-fold within vesicles 1. Structural studies reveal VMAT1 adopts different conformational states during transport, with a lumenal-open conformation facilitating monoamine accumulation and a cytoplasmic-open state triggered by protonation 1. A functionally significant polymorphism (Thr136Ile, rs1390938) affects transport activity, with the 136-Thr variant showing 20-50% lower transport activity compared to 136-Ile 2. This polymorphism has been associated with various psychiatric conditions including bipolar disorder, schizophrenia, and methamphetamine use disorder 345. The variant also correlates with alcohol withdrawal severity, suggesting a role in addiction pathways 6. Additionally, germline deletions in SLC18A1 increase colorectal cancer risk, with reduced expression observed in tumor tissues 7. These findings establish SLC18A1 as a critical component of monoaminergic neurotransmission with implications for neuropsychiatric disorders and potentially cancer.

Sources cited
1
VMAT1 structure, monoamine binding, transport mechanism, and conformational states
PMID: 38499039
2
Functional effects of Thr136Ile polymorphism on transport activity
PMID: 23090274
3
Association of Thr136Ile variant with bipolar disorder and evolutionary significance
PMID: 30283697
4
Association between VMAT1 polymorphisms and schizophrenia
PMID: 18451639
5
Association with methamphetamine use disorder
PMID: 39394974
6
Role in alcohol withdrawal severity
PMID: 26876819
7
Germline deletions increase colorectal cancer risk and reduced expression in tumors
PMID: 28968818
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.44Moderate
non-Hodgkins lymphomaOpen Targets
0.30Weak
central nervous system cancerOpen Targets
0.29Weak
hidradenitisOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.11Weak
metabolic syndromeOpen Targets
0.11Weak
cardiovascular diseaseOpen Targets
0.10Weak
familial lipoprotein lipase deficiencyOpen Targets
0.10Weak
injuryOpen Targets
0.09Suggestive
myocardial infarctionOpen Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.08Suggestive
gastric ulcerOpen Targets
0.08Suggestive
hemorrhageOpen Targets
0.08Suggestive
cesarean sectionOpen Targets
0.08Suggestive
cellulitisOpen Targets
0.08Suggestive
Self-injurious behaviorOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.07Suggestive
HypercholesterolemiaOpen Targets
0.07Suggestive
response to antihypertensive drugOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC17A7Protein interaction100%SLC17A6Protein interaction99%SLC17A8Protein interaction98%SLC32A1Protein interaction95%SNCAProtein interaction91%SLC18A2Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Lung
0%
Liver
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SLC18A1SLC17A7SLC17A6SLC17A8SLC32A1SNCASLC18A2
PROTEIN STRUCTURE
Preparing viewer…
PDB8TGN · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.98–1.49]
RankingsWhere SLC18A1 stands among ~20K protein-coding genes
  • #9,133of 20,598
    Most Researched48
  • #15,112of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedSLC18A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Positive and balancing selection on
PMID: 30283697
Evol Lett · 2018
1.00
2
Associations between methamphetamine use disorder and
PMID: 39394974
Dialogues Clin Neurosci · 2024
0.90
3
Deletions at SLC18A1 increased the risk of CRC and lower SLC18A1 expression associated with poor CRC outcome.
PMID: 28968818
Carcinogenesis · 2017
0.80
4
Genetic Variation in the Vesicular Monoamine Transporter 1 (VMAT1/SLC18A1) Gene and Alcohol Withdrawal Severity.
PMID: 26876819
Alcohol Clin Exp Res · 2016
0.70
5
Thr136Ile polymorphism of human vesicular monoamine transporter-1 (SLC18A1 gene) influences its transport activity in vitro.
PMID: 23090274
Neuro Endocrinol Lett · 2012
0.60