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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AANAT
aralkylamine N-acetyltransferase
Chromosome 17 · 17q25.1
NCBI Gene: 15Ensembl: ENSG00000129673.11HGNC: HGNC:19UniProt: F1T0I5
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
perinuclear region of cytoplasmcircadian rhythmcytosolprotein bindinginsomniaThrombocytopeniamacrothrombocytopenia, isolated, 2, autosomal dominantattention deficit hyperactivity disorder
✦AI Summary

AANAT (aralkylamine N-acetyltransferase) is the rate-limiting enzyme in melatonin biosynthesis, catalyzing the N-acetylation of serotonin to N-acetylserotonin, the penultimate step in melatonin synthesis 1. Located on chromosome 17, AANAT controls the night/day rhythm of melatonin production in the pineal gland and is highly expressed in pineal tissue, with lower expression in retina, brain regions, and pituitary gland 1. The enzyme's activity is regulated by circadian mechanisms and can be modulated by inflammatory mediators like interleukin-6 and interleukin-18, which inhibit AANAT gene transcription 2. AANAT expression is also regulated by SIRT6, with dysregulation leading to impaired tryptophan catabolism and neurotoxic metabolite accumulation 3. Clinically, AANAT gene polymorphisms show significant associations with major depressive disorder, particularly in young males 45, and with seasonality patterns in bipolar disorder 6. The enzyme represents a potential therapeutic target for circadian rhythm disorders and conditions involving abnormal melatonin levels, such as seasonal affective disorder 7. AANAT's role in melatonin production makes it crucial for regulating sleep-wake cycles, seasonal behaviors, and potentially mood-related disorders 8.

Sources cited
1
AANAT is the penultimate enzyme in melatonin synthesis, located on chromosome 17q25, and highly expressed in pineal gland
PMID: 8661026
2
AANAT activity is regulated by inflammatory mediators like interleukin-6 and interleukin-18 which inhibit gene transcription
PMID: 27235884
3
SIRT6 regulates AANAT expression and tryptophan catabolism, with dysregulation leading to neurotoxic metabolite accumulation
PMID: 41345108
4
AANAT polymorphisms are associated with major depressive disorder risk in young males
PMID: 41789583
5
AANAT gene variants show significant association with major depression susceptibility
PMID: 20459461
6
AANAT variants are associated with seasonality patterns in bipolar disorder patients
PMID: 33993688
7
AANAT represents a potential therapeutic target for seasonal affective disorder and other conditions with abnormal melatonin levels
PMID: 37984928
8
AANAT-produced melatonin plays important roles in regulating circadian rhythms and alcohol-related disorders
PMID: 32419511
Disease Associationsⓘ20
insomniaOpen Targets
0.11Weak
ThrombocytopeniaOpen Targets
0.08Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
thrombocytopenia 4Open Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
platelet-type bleeding disorder 15Open Targets
0.05Suggestive
platelet-type bleeding disorder 10Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
thrombocytopenia 2Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ASMTProtein interaction99%YWHAZProtein interaction97%MAOBProtein interaction95%DDCProtein interaction94%IDO2Protein interaction94%MAOAProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
46%
Ovary
29%
Brain
13%
Liver
12%
Heart
0%
Gene Interaction Network
Click a node to explore
AANATASMTYWHAZMAOBDDCIDO2MAOA
PROTEIN STRUCTURE
Preparing viewer…
PDB6T80 · 2.99 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.49–1.28]
RankingsWhere AANAT stands among ~20K protein-coding genes
  • #9,295of 20,598
    Most Researched46
  • #13,519of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedAANAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association between the Arylalkylamine N-Acetyltransferase (AANAT) Gene and Seasonality in Patients with Bipolar Disorder.
PMID: 33993688
Psychiatry Investig · 2021
1.00
2
Histone deacetylase SIRT6 regulates tryptophan catabolism and prevents metabolite imbalance associated with neurodegeneration.
PMID: 41345108
Nat Commun · 2025
0.90
3
The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT): structure, chromosomal localization, and tissue expression.
PMID: 8661026
Genomics · 1996
0.80
4
Melatonin and alcohol-related disorders.
PMID: 32419511
Chronobiol Int · 2020
0.70
5
The Sex- and Age-Specific Association of AANAT Gene Polymorphisms With the Risk of Major Depressive Disorder in the Chinese Population.
PMID: 41789583
Int J Dev Neurosci · 2026
0.60