AANAT (Aralkylamine N-Acetyltransferase)
Key enzyme in melatonin synthesis and circadian rhythm regulation
Gene Information Card
| Symbol | AANAT |
|---|---|
| Full Name | Aralkylamine N-Acetyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 15 ncbi.nlm.nih.gov/gene/15 |
| Ensembl ID | ENSG00000108691 |
| UniProt ID | Q16613 |
| OMIM ID | 600950 |
| HGNC ID | 19 |
| Aliases | SNAT, NAT-1, AA-NAT, serotonin N-acetyltransferase |
Description
AANAT encodes aralkylamine N-acetyltransferase, the penultimate enzyme in melatonin synthesis. It catalyzes the acetylation of serotonin to N-acetylserotonin using acetyl-CoA. Expression is highly regulated in the pineal gland by circadian rhythms, with peak activity at night. The enzyme is a member of the GCN5-related N-acetyltransferase (GNAT) superfamily.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Delayed sleep phase disorder (DSPD) | Reduced nocturnal AANAT activity may alter melatonin peak timing, contributing to circadian misalignment. | PMID: 15689449 |
| Seasonal affective disorder (SAD) | Altered AANAT expression or regulation may affect melatonin rhythm and mood seasonality. | PMID: 11500908 |
| Alzheimer disease | Decreased pineal AANAT activity and melatonin levels are observed in Alzheimer patients. | PMID: 10481842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pineal gland | 123.4 | High |
| Retina | 45.2 | Medium |
| Cerebellum | 2.1 | Low |
| Testis | 1.8 | Low |
| Pituitary gland | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Y79 (retinoblastoma) | 0.0 | No detectable expression |
| SH-SY5Y (neuroblastoma) | 0.0 | No detectable expression |
| HEK293 (embryonic kidney) | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259G>A (p.Ala87Thr) | Missense | <0.01% | Reduced enzyme activity in vitro; associated with altered melatonin profiles |
| c.442C>T (p.Arg148Cys) | Missense | <0.01% | Decreased catalytic efficiency; reported in circadian rhythm disorders |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Ala87Thr and p.Arg148Cys reduce or abolish enzymatic activity, impairing melatonin synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported in AANAT.
Dominant Negative (DN)
No dominant-negative mutations reported in AANAT.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004059 – aralkylamine N-acetyltransferase activity | • GO:0005737 – cytoplasm |
| • GO:0005829 – cytosol | • GO:0007623 – circadian rhythm |
| • GO:0030187 – melatonin biosynthetic process | • GO:0042417 – dopamine catabolic process |
Pathways
• Melatonin biosynthesis (R-HSA-209776)
• Circadian rhythm pathway (KEGG hsa04710)
• Tryptophan metabolism (KEGG hsa00380)
Protein Summary
AANAT is a 23 kDa protein (207 amino acids) belonging to the GNAT superfamily. It exists as a homodimer and uses acetyl-CoA to acetylate serotonin. The enzyme is highly regulated by cAMP-dependent phosphorylation and proteasomal degradation, ensuring a sharp nocturnal melatonin peak. Its structure includes a conserved acetyl-CoA binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AANAT Knockout HEK293 Cell Line | EDJ-KQ3987 | Human | 15 | Details Get a Quote |
| AANAT Knockout HeLa Cell Line | EDJ-KQ52531 | Human | 15 | Details Get a Quote |
| AANAT Knockout A-549 Cell Line | EDJ-KQ61012 | Human | 15 | Details Get a Quote |
| AANAT Knockout HCT 116 Cell Line | EDJ-KQ69486 | Human | 15 | Details Get a Quote |
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