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Aliases for AANAT Gene

Aliases for AANAT Gene

  • Aralkylamine N-Acetyltransferase 2 3 4 5
  • Arylalkylamine N-Acetyltransferase 2 3
  • Serotonin N-Acetyltransferase 2 3
  • Serotonin Acetylase 3 4
  • EC 4 61
  • SNAT 3 4
  • AA-NAT 4
  • DSPS 3

External Ids for AANAT Gene

Previous GeneCards Identifiers for AANAT Gene

  • GC17P074297
  • GC17P077455
  • GC17P074927
  • GC17P075060
  • GC17P071975
  • GC17P074449
  • GC17P069877

Summaries for AANAT Gene

Entrez Gene Summary for AANAT Gene

  • 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 function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for AANAT Gene

AANAT (Aralkylamine N-Acetyltransferase) is a Protein Coding gene. Diseases associated with AANAT include Delayed Sleep Phase Syndrome and Dissociative Amnesia. Among its related pathways are Metabolism and Amine-derived hormones. GO annotations related to this gene include N-acetyltransferase activity and arylamine N-acetyltransferase activity.

UniProtKB/Swiss-Prot for AANAT Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AANAT Gene

Genomics for AANAT Gene

Regulatory Elements for AANAT Gene

Enhancers for AANAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F076480 1.7 FANTOM5 Ensembl ENCODE 17.6 +30.5 30487 6.1 HDGF PKNOX1 CREB3L1 MLX ARID4B DMAP1 ZNF2 SLC30A9 FOS SP3 RHBDF2 UNK AANAT CDK3 UBE2O ENSG00000267342 ENSG00000267801 TRIM65 GC17P076469 GC17M076496
GH17F076596 1.8 FANTOM5 Ensembl ENCODE 10.8 +147.2 147199 6.5 ARNT ARID4B DMAP1 YY1 FOS KLF13 ZNF263 SP5 JUNB ZNF592 METTL23 UNK JMJD6 SPHK1 ENSG00000267342 MFSD11 RNU6-227P H3F3B ST6GALNAC2 SNORD1B
GH17F076419 1.4 FANTOM5 Ensembl ENCODE 12.2 -32.5 -32501 1.7 HDGF DRAP1 DNMT3B RARA FOSL1 SLC30A9 GATA4 FOS NR2F6 FOSL2 SPHK1 AANAT UBE2O PRPSAP1 RNU6-24P QRICH2 RNF157 MFSD11 GC17P076430 GC17M076386
GH17F076488 1.2 Ensembl ENCODE 13.7 +39.9 39948 8.0 ELF3 PKNOX1 FEZF1 RARA ZNF121 EGR1 ETV6 FOS ZNF548 EGR2 UNK ENSG00000267342 AANAT TRIM65 ENSG00000267543 ENSG00000266980 ENSG00000267546 RHBDF2 SNHG16 SPHK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AANAT on UCSC Golden Path with GeneCards custom track

Promoters for AANAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001353696 -153 1801 HDGF ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2

Genomic Location for AANAT Gene

76,452,853 bp from pter
76,470,790 bp from pter
17,938 bases
Plus strand

Genomic View for AANAT Gene

Genes around AANAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AANAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AANAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AANAT Gene

Proteins for AANAT Gene

  • Protein details for AANAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serotonin N-acetyltransferase
    Protein Accession:
    Secondary Accessions:
    • A0AVF2
    • J3KMZ5
    • Q562F4

    Protein attributes for AANAT Gene

    207 amino acids
    Molecular mass:
    23344 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with several 14-3-3 proteins, including YWHAB, YWHAE, YWHAG and YWHAZ, preferentially when phosphorylated at Thr-31. Phosphorylation on Ser-205 also allows binding to YWHAZ, but with lower affinity. The interaction with YWHAZ considerably increases affinity for arylalkylamines and acetyl-CoA and protects the enzyme from dephosphorylation and proteasomal degradation (By similarity). It may also prevent thiol-dependent inactivation (By similarity).
    • Sequence=AAH69434.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AANAT Gene


neXtProt entry for AANAT Gene

Selected DME Specific Peptides for AANAT Gene


Post-translational modifications for AANAT Gene

  • cAMP-dependent phosphorylation on both N-terminal Thr-31 and C-terminal Ser-205 regulates AANAT activity by promoting interaction with 14-3-3 proteins.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AANAT Gene

Domains & Families for AANAT Gene

Gene Families for AANAT Gene

Protein Domains for AANAT Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 N-acetyltransferase domain.
  • Belongs to the acetyltransferase family. AANAT subfamily.
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the acetyltransferase family. AANAT subfamily.
genes like me logo Genes that share domains with AANAT: view

Function for AANAT Gene

Molecular function for AANAT Gene

GENATLAS Biochemistry:
arylalkylamine N-acetyltransferase,23kDa,expressed in the pineal gland,penultimate step in melatonin synthesis,controlling the circadian rythm of production of melatonin,rhythmic activity controlled by ICER,an early response repressor
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.13 mM for tryptamine {ECO:0000269 PubMed:11313340}; KM=2.6 mM for 5-hydroxytryptamine {ECO:0000269 PubMed:11313340}; KM=0.55 mM for phenylethylamine {ECO:0000269 PubMed:11313340}; KM=10.6 mM for tyramine {ECO:0000269 PubMed:11313340};
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + a 2-arylethylamine = CoA + an N-acetyl-2-arylethylamine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for AANAT Gene

Gene Ontology (GO) - Molecular Function for AANAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004059 aralkylamine N-acetyltransferase activity TAS --
GO:0004060 arylamine N-acetyltransferase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008080 N-acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with AANAT: view
genes like me logo Genes that share phenotypes with AANAT: view

Animal Model Products

miRNA for AANAT Gene

miRTarBase miRNAs that target AANAT

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AANAT Gene

Localization for AANAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AANAT Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AANAT gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AANAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 11313340
genes like me logo Genes that share ontologies with AANAT: view

Pathways & Interactions for AANAT Gene

genes like me logo Genes that share pathways with AANAT: view

UniProtKB/Swiss-Prot Q16613-SNAT_HUMAN

  • Pathway: Aromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2.

Gene Ontology (GO) - Biological Process for AANAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006474 N-terminal protein amino acid acetylation IDA 11313340
GO:0007623 circadian rhythm NAS 8661026
GO:0009416 response to light stimulus IEA,IBA --
GO:0009648 photoperiodism IEA --
GO:0010043 response to zinc ion IEA --
genes like me logo Genes that share ontologies with AANAT: view

No data available for SIGNOR curated interactions for AANAT Gene

Drugs & Compounds for AANAT Gene

(32) Drugs for AANAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coa-S-Acetyl 5-Bromotryptamine Experimental Pharma Target 0
Coa-S-Acetyl Tryptamine Experimental Pharma Target 0
Coa-S-Trimethylene-Acetyl-Tryptamine Experimental Pharma Target 0
Phenylethylamine Experimental Pharma 0
tryptamine Pharma Full agonist, Agonist 0

(20) Additional Compounds for AANAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
  • 5-Hydroxy-N-acetyltryptamine
  • 5-Hydroxymelatonin
  • ASE
  • Desmethylmelatonin
  • N-Acetyl-5-hydroxytryptamine
  • 2-(5-Methoxy-1H-indol-3-yl)ethanamine
  • 2-(5-Methoxyindol-3-yl)ethylamine
  • 3-(2-Aminoethyl)-5-methoxyindole
  • 5-Mot
  • 5MOT
genes like me logo Genes that share compounds with AANAT: view

Transcripts for AANAT Gene

mRNA/cDNA for AANAT Gene

Unigene Clusters for AANAT Gene

Aralkylamine N-acetyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AANAT Gene

No ASD Table

Relevant External Links for AANAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AANAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AANAT Gene

mRNA differential expression in normal tissues according to GTEx for AANAT Gene

This gene is overexpressed in Testis (x8.8).

NURSA nuclear receptor signaling pathways regulating expression of AANAT Gene:


SOURCE GeneReport for Unigene cluster for AANAT Gene:


mRNA Expression by UniProt/SwissProt for AANAT Gene:

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.
genes like me logo Genes that share expression patterns with AANAT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for AANAT Gene

Orthologs for AANAT Gene

This gene was present in the common ancestor of chordates.

Orthologs for AANAT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AANAT 34 35
  • 98.39 (n)
(Rattus norvegicus)
Mammalia Aanat 34
  • 85.06 (n)
(Mus musculus)
Mammalia Aanat 34 16 35
  • 84.56 (n)
(Canis familiaris)
Mammalia AANAT 34 35
  • 84.54 (n)
(Bos Taurus)
Mammalia LOC618594 34
  • 84.23 (n)
-- 35
  • 77 (a)
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia AANAT 35
  • 68 (a)
(Monodelphis domestica)
Mammalia AANAT 35
  • 67 (a)
(Gallus gallus)
Aves AANAT 34 35
  • 75.33 (n)
(Anolis carolinensis)
Reptilia AANAT 35
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aanat 34
  • 73.33 (n)
(Danio rerio)
Actinopterygii aanat1 34 35
  • 66.17 (n)
aanat2 35
  • 58 (a)
zgc73074 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11691 34
Species where no ortholog for AANAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AANAT Gene

Gene Tree for AANAT (if available)
Gene Tree for AANAT (if available)

Paralogs for AANAT Gene

No data available for Paralogs for AANAT Gene

Variants for AANAT Gene

Sequence variations from dbSNP and Humsavar for AANAT Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs28936679 Uncertain significance 76,469,731(+) ACCGC(A/G)CCTTC nc-transcript-variant, reference, missense
rs10578887 -- 76,461,629(+) AAAAA(-/AA)GGAAG intron-variant
rs11077820 -- 76,458,586(+) CCTCT(C/T)CCCTT intron-variant
rs11077821 -- 76,459,497(+) AGCTC(C/T)ACATG intron-variant
rs11077822 -- 76,459,523(+) TCTTG(A/G)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AANAT Gene

Variant ID Type Subtype PubMed ID
nsv833549 CNV gain 17160897
nsv1058263 CNV gain 25217958

Variation tolerance for AANAT Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AANAT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AANAT Gene

Disorders for AANAT Gene

MalaCards: The human disease database

(5) MalaCards diseases for AANAT Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
delayed sleep phase syndrome
  • dsps
dissociative amnesia
  • psychogenic amnesia
dissociative disorder
  • dissociative disease
  • pinealoma
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AANAT in MalaCards View complete list of genes associated with diseases

Relevant External Links for AANAT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AANAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AANAT Gene

Publications for AANAT Gene

  1. Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome. (PMID: 12736803) Hohjoh H. … Tokunaga K. (Neurogenetics 2003) 3 4 22 46 64
  2. The human serotonin N-acetyltransferase (EC gene (AANAT): structure, chromosomal localization, and tissue expression. (PMID: 8661026) Coon S.L. … Rodriguez I.R. (Genomics 1996) 2 3 4 22 64
  3. Arylalkylamine N-acetyltransferase (AANAT) genotype as a personal trait in melatonin synthesis. (PMID: 18569588) Blomeke B. … Roemer H.C. (J. Toxicol. Environ. Health Part A 2008) 3 22 46 64
  4. Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese. (PMID: 18794762) Wang H. … Qiu G. (Spine 2008) 3 22 46 64
  5. A naturally occurring -263G/C variant of the human AA-NAT gene and overnight melatonin production. (PMID: 14728993) Ying G.W. … Lee E.J. (Mol. Genet. Metab. 2004) 3 22 46 64

Products for AANAT Gene

Sources for AANAT Gene

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