AANAT (aralkylamine N-acetyltransferase)

Gene

• Entrez ID: 15
• Gene name: Aralkylamine N-acetyltransferase
• Gene symbol: AANAT
• Synonyms (NCBI Gene): DSPS, SNAT
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT054775	hsa-miR-183-5p	Luciferase reporter assay, qRT-PCR	24423866
MIRT736601	hsa-miR-483-3p	Luciferase reporter assay, Northern blotting, qRT-PCR	22908386

Gene ontology (GO)

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
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006474	Process	N-terminal protein amino acid acetylation	IDA	11313340
GO:0007623	Process	Circadian rhythm	IBA
GO:0007623	Process	Circadian rhythm	IEA
GO:0007623	Process	Circadian rhythm	IMP	12736803
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0009416	Process	Response to light stimulus	IBA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009648	Process	Photoperiodism	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0030187	Process	Melatonin biosynthetic process	IBA
GO:0030187	Process	Melatonin biosynthetic process	IDA	11313340
GO:0030187	Process	Melatonin biosynthetic process	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0034097	Process	Response to cytokine	IEA
GO:0034695	Process	Response to prostaglandin E	IEA
GO:0046219	Process	Indolalkylamine biosynthetic process	TAS
GO:0046688	Process	Response to copper ion	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11313340
GO:0048511	Process	Rhythmic process	IEA
GO:0051412	Process	Response to corticosterone	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0071320	Process	Cellular response to cAMP	IDA	11313340
GO:0071889	Function	14-3-3 protein binding	IEA
GO:1901652	Process	Response to peptide	IEA

Other IDs

• MIM: 600950
• HGNC: 19
• e!Ensembl: ENSG00000129673

Protein

• UniProt ID: 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:

  MSTQSTHPLKPEAPRLPPGIPESPSCQRRHTLPASEFRCLTPEDAVSAFEIEREAFISVL
  GVCPLYLDEIRHFLTLCPELSLGWFEEGCLVAFIIGSLWDKERLMQESLTLHRSGGHIAH
  LHVLAVHRAFRQQGRGPILLWRYLHHLGSQPAVRRAALMCEDALVPFYERFSFHAVGPCA
  ITVGSLTFMELHCSLRGHPFLRRNSGC

• Sequence length: 207

Pathways

KEGG:

Tryptophan metabolism
Metabolic pathways

Reactome:

Serotonin and melatonin biosynthesis

Associated diseases

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
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
SLEEP DISORDERS, CIRCADIAN RHYTHM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from 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
Colitis Ulcerative	Ulcerative colitis	Pubtator	29382152	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38302916	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24628039, 28604612		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28604612	Associate	★☆☆☆☆ Found in Text Mining only
Delayed Sleep Phase Syndrome	Delayed Sleep Phase Syndrome	BEFREE	12736803		★☆☆☆☆ Found in Text Mining only
Delayed Sleep Phase Syndrome	Delayed Sleep Phase Syndrome	CTD_human_DG	12736803		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	PSYGENET_DG	20459461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	11316327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	30890428		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31815152	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31815152	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31815152	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20459461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22138747, 23822714, 25229211		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28604612		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11821057	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24729125		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	11316327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	28604612		★☆☆☆☆ Found in Text Mining only
Non-24 Hour Sleep-Wake Disorder	Non-24 Hour Sleep-Wake Disorder	CTD_human_DG	12736803		★☆☆☆☆ Found in Text Mining only
Nonorganic Sleep Wake Cycle Disorders	Nonorganic Sleep Wake Cycle Disorders	CTD_human_DG	12736803		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28699174	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10496148		★☆☆☆☆ Found in Text Mining only
Shift-Work Sleep Disorder	Shift-Work Sleep Disorder	CTD_human_DG	12736803		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20459461		★☆☆☆☆ Found in Text Mining only