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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Delayed sleep phase syndrome, susceptibility to Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 29846607
★☆☆☆☆
Found in Text Mining only
Advanced Sleep Phase Syndrome Advanced Sleep Phase Syndrome CTD_human_DG 12736803
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 18794762
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18680475
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 28522826 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 20377855, 28522826
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22138747, 23822714, 25229211
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23822714 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23822714 Stimulate
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis BEFREE 30890428
★☆☆☆☆
Found in Text Mining only