Gene Gene information from NCBI Gene database.
Entrez ID 15
Gene name Aralkylamine N-acetyltransferase
Gene symbol AANAT
Synonyms (NCBI Gene)
DSPSSNAT
Chromosome 17
Chromosome location 17q25.1
Summary The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the fun
miRNA miRNA information provided by mirtarbase database.
2
miRTarBase ID miRNA Experiments Reference
MIRT054775 hsa-miR-183-5p Luciferase reporter assayqRT-PCR 24423866
MIRT736601 hsa-miR-483-3p Luciferase reporter assayNorthern blottingqRT-PCR 22908386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0004059 Function Aralkylamine N-acetyltransferase activity IBA
GO:0004059 Function Aralkylamine N-acetyltransferase activity IDA 11313340
GO:0004059 Function Aralkylamine N-acetyltransferase activity IEA
GO:0004059 Function Aralkylamine N-acetyltransferase activity TAS
GO:0004060 Function Arylamine N-acetyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600950 19 ENSG00000129673
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16613
Protein name Serotonin N-acetyltransferase (Serotonin acetylase) (EC 2.3.1.87) (Aralkylamine N-acetyltransferase) (AA-NAT)
Protein function Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin.
PDB 6T80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 45 173 Acetyltransferase (GNAT) family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pineal gland and at lower levels in the retina. Weak expression in several brain regions and in the pituitary gland. {ECO:0000269|PubMed:18212399, ECO:0000269|PubMed:8661026}.
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tryptophan metabolism
Metabolic pathways
  Serotonin and melatonin biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Delayed sleep phase syndrome, susceptibility to Uncertain significance rs28936679 RCV000009162
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 28522826
Breast Neoplasms Associate 23822714
Breast Neoplasms Stimulate 23822714
Colitis Lymphocytic Stimulate 29382152
Colitis Ulcerative Stimulate 29382152
Colitis Ulcerative Associate 38302916
Colorectal Neoplasms Associate 28604612
Hematologic Diseases Associate 31815152
Immune System Diseases Associate 31815152
Lupus Erythematosus Systemic Associate 31815152