AANAT Gene (Protein Coding)

Aralkylamine N-Acetyltransferase

GC17P076453
GIFtS:
40
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 t... See more...

Aliases for AANAT Gene

Aliases for AANAT Gene

  • Aralkylamine N-Acetyltransferase 2 3 4 5
  • Serotonin N-Acetyltransferase 2 3 4
  • SNAT 2 3 4
  • Arylalkylamine N-Acetyltransferase 2 3
  • Serotonin Acetylase 3 4
  • EC 2.3.1.87 4 51
  • AA-NAT 4
  • AANAT 5
  • 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 Pineocytoma and Alexia. Among its related pathways are Amine-derived hormones and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include N-acetyltransferase activity and arylamine N-acetyltransferase activity.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AANAT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AANAT Gene

Genomics for AANAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AANAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AANAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AANAT

Top Transcription factor binding sites by QIAGEN in the AANAT gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • E47
  • MIF-1
  • MZF-1
  • Nkx6-1
  • Pax-4a
  • Pax-5

Genomic Locations for AANAT Gene

Latest Assembly
chr17:76,453,351-76,470,797
(GRCh38/hg38)
Size:
17,447 bases
Orientation:
Plus strand

Previous Assembly
chr17:74,449,433-74,466,199
(GRCh37/hg19 by Entrez Gene)
Size:
16,767 bases
Orientation:
Plus strand

chr17:74,449,433-74,466,199
(GRCh37/hg19 by Ensembl)
Size:
16,767 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for AANAT Gene

Proteins for AANAT Gene

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

    Protein Symbol:
    Q16613-SNAT_HUMAN
    Recommended name:
    Serotonin N-acetyltransferase
    Protein Accession:
    Q16613
    Secondary Accessions:
    • A0AVF2
    • J3KMZ5
    • Q562F4

    Protein attributes for AANAT Gene

    Size:
    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).
    SequenceCaution:
    • Sequence=AAH69434.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AANAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AANAT Gene

Selected DME Specific Peptides for AANAT Gene

Q16613:
  • HFLTLCPELSLGWF
  • QRRHTLPA
  • FEIEREAFISV
  • LVAFIIGSLWD
  • GPCAITVGSL

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

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AANAT Gene

Gene Families for AANAT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AANAT Gene

InterPro:
Blocks:
  • GCN5-related N-acetyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for AANAT Gene

GenScript: Design optimal peptide antigens:
  • Serotonin N-acetyltransferase (F1T0I5_HUMAN)
  • Arylalkylamine N-acetyltransferase (Q9GZS4_HUMAN)
  • Arylalkylamine N-acetyltransferase (Q9H3S9_HUMAN)
  • Arylalkylamine N-acetyltransferase (Q9H3T0_HUMAN)
  • Arylalkylamine N-acetyltransferase (Q9H3T1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16613

UniProtKB/Swiss-Prot:

SNAT_HUMAN :
  • Belongs to the acetyltransferase family. AANAT subfamily.
Family:
  • Belongs to the acetyltransferase family. AANAT subfamily.
genes like me logo Genes that share domains with AANAT: view

Function for AANAT Gene

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Molecular function for AANAT Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-arylethylamine + acetyl-CoA = CoA + H(+) + N-acetyl-2-arylethylamine; Xref=Rhea:RHEA:20497, ChEBI:CHEBI:15378, ChEBI:CHEBI:55469, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:77827; EC=2.3.1.87; Evidence={ECO:0000269|PubMed:11313340};.
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};
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

Enzyme Numbers (IUBMB) for AANAT Gene

Phenotypes From GWAS Catalog 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 Models for research

miRNA for AANAT Gene

miRTarBase miRNAs that target AANAT

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AANAT

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 4
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AANAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
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.

SIGNOR curated interactions for AANAT Gene

Is activated by:

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 IBA,IMP 12736803
GO:0009416 response to light stimulus IBA 21873635
GO:0009648 photoperiodism IEA --
GO:0010043 response to zinc ion IEA --
genes like me logo Genes that share ontologies with AANAT: view

Drugs & Compounds for AANAT Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cannabidiol Approved, Investigational Pharma Target, Enzyme, inhibitor 0
n-acetylserotonin Experimental Pharma 0
tryptamine Experimental Pharma 0
CoA-S-acetyl 5-bromotryptamine Experimental Pharma Target 0
CoA-s-acetyl tryptamine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
5-Methoxytryptamine
  • 2-(5-Methoxyindol-3-yl)ethylamine
  • 3-(2-Aminoethyl)-5-methoxyindole
  • 5-MeOT
  • 5-Methoxy-1H-indole-3-ethanamine
  • 5-MT
 608-07-1
genes like me logo Genes that share compounds with AANAT: view

Transcripts for AANAT Gene

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mRNA/cDNA for AANAT Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AANAT

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

No ASD Table

Relevant External Links for AANAT Gene

GeneLoc Exon Structure for
AANAT

Expression for AANAT Gene

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

mRNA expression in normal human tissues for AANAT Gene
mRNA expression by BioGPS for AANAT GenemRNA expression by GTEx for AANAT Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AANAT

SOURCE GeneReport for Unigene cluster for AANAT Gene:

Hs.431417

mRNA Expression by UniProt/SwissProt for AANAT Gene:

Q16613-SNAT_HUMAN
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.

Evidence on tissue expression from TISSUES for AANAT Gene

  • Nervous system(4.6)
  • Liver(2.3)
  • Eye(2)
genes like me logo Genes that share expression patterns with AANAT: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia AANAT 30 31
  • 98.39 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aanat 30
  • 85.06 (n)
Mouse
(Mus musculus)
 Mammalia Aanat 30 17 31
  • 84.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AANAT 30 31
  • 84.54 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LOC618594 30
  • 84.23 (n)
AANAT 31
  • 77 (a)
 OneToMany
-- 31
  • 77 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia AANAT 31
  • 68 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AANAT 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AANAT 30 31
  • 75.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AANAT 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia aanat 30
  • 73.33 (n)
Zebrafish
(Danio rerio)
 Actinopterygii aanat1 30 31
  • 66.17 (n)
 OneToMany
aanat2 31
  • 58 (a)
 OneToMany
zgc73074 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11691 30
Species where no ortholog for AANAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AANAT (if available)
TreeFam:
Gene Tree for AANAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AANAT: view image

Paralogs for AANAT Gene

No data available for Paralogs for AANAT Gene

Variants for AANAT Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AANAT Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs140194920 Likely Benign: not provided 76,469,712(+) T/C
NM_001088.3(AANAT):c.366T>C (p.His122=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs141006262 Likely Benign: not provided 76,468,832(+) G/A
NM_001088.3(AANAT):c.86G>A (p.Arg29His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs2071031 Benign: not provided 76,469,814(+) C/T
NM_001088.3(AANAT):c.468C>T (p.Ala156=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs28936679 Uncertain Significance: Sleep-wake schedule disorder, delayed phase type. - 76,469,731(+) G/Ap.Ala129Thr
NM_001088.3(AANAT):c.385G>A (p.Ala129Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs58504104 Benign: not provided 76,469,889(+) C/A
NM_001088.3(AANAT):c.543C>A (p.Ile181=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AANAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for AANAT Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for AANAT Gene

MalaCards: The human disease database

(9) MalaCards diseases for AANAT Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pineocytoma
  • pinealocytoma
alexia
  • acquired dyslexia
delayed sleep phase disorder
  • delayed sleep phase disorder, susceptibility to
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
amegakaryocytic thrombocytopenia, congenital
  • camt
- elite association - COSMIC cancer census association via MalaCards
Search AANAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AANAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 41
  2. The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT): structure, chromosomal localization, and tissue expression. (PMID: 8661026) Coon SL … Rodriguez IR (Genomics 1996) 2 3 4 23
  3. 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 23 41
  4. Arylalkylamine N-acetyltransferase (AANAT) genotype as a personal trait in melatonin synthesis. (PMID: 18569588) Blomeke B … Roemer HC (Journal of toxicology and environmental health. Part A 2008) 3 23 41
  5. Genetic variability of arylalkylamine-N-acetyl-transferase (AA-NAT) gene and human sleep/wake pattern. (PMID: 15332344) Wang GY … Lee EJ (Chronobiology international 2004) 3 23 41

ExternalLinks

View latest publications for AANAT gene in Mastermind

Products for AANAT Gene

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Sources for AANAT Gene