AANAT aralkylamine N-acetyltransferase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: AANATprovided by HGNC
Official Full Name: aralkylamine N-acetyltransferaseprovided by HGNC
Primary source: HGNC:19
See related: Ensembl:ENSG00000129673; HPRD:02974; MIM:600950; Vega:OTTHUMG00000180179
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DSPS; SNAT
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 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]

Genomic context

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Location :: 17q25

Sequence :: Chromosome: 17; NC_000017.10 (74449433..74466199)

See AANAT in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

There is dysregulation of the AANAT/ASMT/melatonin --> melatonin receptor axis in cholangiocarcinoma, which inhibited melatonin secretion and subsequently enhanced CCA growth.
Title: Melatonin exerts by an autocrine loop antiproliferative effects in cholangiocarcinoma: its synthesis is reduced favoring cholangiocarcinoma growth.
The expression of AANAT in epithelial cells of striated ducts in human submandibular glands.
Title: Expression and cellular localizaion of melatonin-synthesizing enzymes in rat and human salivary glands.
The functional expression of human SNA protein was closely associated with the elevated synthesis of N-acetylserotonin and melatonin in transgenic rice plants.
Title: Enhanced production of melatonin by ectopic overexpression of human serotonin N-acetyltransferase plays a role in cold resistance in transgenic rice seedlings.
Identified 17 sequence changes in AANAT gene of patients with major depression. Show evidence of the association of genetic variability in the AANAT gene with susceptibility to major depression.
Title: Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.
AANAT polymorphisms were not associated with adolescent idiopathic scoliosis.
Title: Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese.
Single nucleotide polymorphisms in the AANAT gene identified thus far cannot explain the observed interindividual differences for nocturnal melatonin profiles in the subjects investigated.
Title: Arylalkylamine N-acetyltransferase (AANAT) genotype as a personal trait in melatonin synthesis.
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
Title: The G619A Aa-nat gene polymorphism does not contribute to sleep time variation in the Brazilian population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.
There is a significant increase in AANAT allele positivity at the single nucleotide polymorphism (alanine 129--> threonine) at between patients with DSPS & controls. AA-NAT could be a susceptibility gene for DSPS.
Title: Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.

Submit: New GeneRIF Correction See all (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Delayed sleep phase syndrome, susceptibility to

MIM: 614163

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001079.1	NP_003397.1	YWHAZ	BIND	PubMed	AANAT interacts with 14-3-3-zeta isoform. This interaction was modeled on a demonstrated interaction between sheep AANAT and human 14-3-3-zeta.
Q16613	P00734	F2	HPRD	PubMed
Q16613	P17612	PRKACA	HPRD	PubMed
Q16613	P63104	YWHAZ	HPRD	PubMed
BioGRID:106533	BioGRID:113366	YWHAZ	BioGRID	PubMed	Co-crystal Structure; Co-purification

Pathways from BioSystems

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Amine-derived hormones, organism-specific biosystem (from REACTOME)
Amine-derived hormones, organism-specific biosystemCatecholamines and thyroxine are synthesized from tyrosine, and serotonin and melatonin from tryptophan.
Biogenic Amine Synthesis, organism-specific biosystem (from WikiPathways)
Biogenic Amine Synthesis, organism-specific biosystemBiogenic amines are one of two broad classes of classical neurotransmitters (the other being amino acids) and include: acetylcholine, serotonin, histamine, and the catecholamines epinephrine, norepin...
Melatonin biosynthesis, tryptophan => serotonin => melatonin, organism-specific biosystem (from KEGG)
Melatonin biosynthesis, tryptophan => serotonin => melatonin, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Aromatic amino acid metabolism
Melatonin biosynthesis, tryptophan => serotonin => melatonin, conserved biosystem (from KEGG)
Melatonin biosynthesis, tryptophan => serotonin => melatonin, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Aromatic amino acid metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Serotonin and melatonin biosynthesis, organism-specific biosystem (from REACTOME)
Serotonin and melatonin biosynthesis, organism-specific biosystemSerotonin (5-HT) is a hormone and neurotransmitter used for regulatory purposes in animal CNS. In the human brain, serotonin is involved in many physiological functions such as sleep, pain, mood and ...
Tryptophan metabolism, organism-specific biosystem (from KEGG)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
Tryptophan metabolism, conserved biosystem (from KEGG)
Tryptophan metabolism, conserved biosystem
Tryptophan metabolism
serotonin and melatonin biosynthesis, organism-specific biosystem (from BIOCYC)
serotonin and melatonin biosynthesis, organism-specific biosystem: SEROTONIN is a neurotransmitter that regulates sleep, anxiety, alcoholism, drug abuse, food intake, and sexual behavior . In the central nervous system tryptophan hydroxylase 2 (Tph2) is a rate-li...

General gene information

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Markers

AANAT_2920 (e-PCR)
- UniSTS:462001

NoName (e-PCR)
- UniSTS:490444

NoName (e-PCR)
- UniSTS:481506

Genotypes

See AANAT SNP Geneview Report
See AANAT SNP Genotype Report
See AANAT SNP Variation Viewer Report

Homology

Homologs of the AANAT gene: The AANAT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
aralkylamine N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
aralkylamine N-acetyltransferase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
N-terminal protein amino acid acetylation	IDA Inferred from Direct Assay more info	PubMed
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
circadian rhythm	NAS Non-traceable Author Statement more info	PubMed
indolalkylamine biosynthetic process	TAS Traceable Author Statement more info
melatonin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
melatonin biosynthetic process	IEA Inferred from Electronic Annotation more info
melatonin biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serotonin N-acetyltransferase

Names: serotonin N-acetyltransferase; serotonin acetylase; arylalkylamine N-acetyltransferase

NP_001079.1

EC 2.3.1.87

NP_001160051.1

EC 2.3.1.87

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015976.1 RefSeqGene

Range

5001..21767

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001088.2 → NP_001079.1 serotonin N-acetyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA084486, BC092430, U40347

Consensus CDS

CCDS11745.1

UniProtKB/TrEMBL

F1T0I5

UniProtKB/Swiss-Prot

Q16613

Related

ENSP00000376282, OTTHUMP00000263544, ENST00000392492, OTTHUMT00000450130

Conserved Domains (1) summary

pfam00583
Location:84 – 174
Blast Score: 107

Acetyltransf_1; Acetyltransferase (GNAT) family
NM_001166579.1 → NP_001160051.1 serotonin N-acetyltransferase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC015802, BC092430

Consensus CDS

CCDS54169.1

UniProtKB/TrEMBL

J3KMZ5

UniProtKB/Swiss-Prot

Q16613

Related

ENSP00000250615, OTTHUMP00000263543, ENST00000250615, OTTHUMT00000450129

Conserved Domains (1) summary

pfam00583
Location:129 – 219
Blast Score: 108

Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

74449433..74466199

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

69877340..69894101

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

75535357..75552124

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB023793.1	BAB20312.1
genomic	AB023794.1	BAB20313.1
genomic	AB023795.1	BAB20314.1
genomic	AB023796.1	BAB20315.1
genomic	AB023797.1	BAB20316.1
genomic	ABBA01028742.1 (12056..28817)	None
genomic	AC015802.21 (149284..151832)	None
genomic	AF360979.1	AAK49981.1
genomic	AMYH01008643.1 (108099..124866)	None
genomic	CH471099.1	EAW89400.1
genomic	U40391.1	AAC50555.1
mRNA	AA084486.1	None
mRNA	AB593119.1	BAJ84059.1
mRNA	AY055827.1	None
mRNA	BC069434.1	AAH69434.1
mRNA	BC092430.1	AAH92430.1
mRNA	BC126332.1	AAI26333.1
mRNA	BC126334.1	AAI26335.1
mRNA	BC143989.1	None
mRNA	U40347.1	AAC50554.1
other-genetic	HQ448439.1	ADQ32919.1