AANAT aralkylamine N-acetyltransferase [Homo sapiens] - Gene

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Summary

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
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]

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Genomic context

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

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Delayed sleep phase syndrome, susceptibility to

MIM: 614163

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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

Function	Evidence Code	Pubs
aralkylamine N-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
arylamine N-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
transferase activity, transferring acyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
circadian rhythm	IEA Inferred from Electronic Annotation more info
indolalkylamine biosynthetic process	TAS Traceable Author Statement more info
melatonin biosynthetic process	IEA Inferred from Electronic Annotation more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to calcium ion	IEA Inferred from Electronic Annotation more info
response to copper ion	IEA Inferred from Electronic Annotation more info
response to corticosterone stimulus	IEA Inferred from Electronic Annotation more info
response to cytokine stimulus	IEA Inferred from Electronic Annotation more info
response to insulin stimulus	IEA Inferred from Electronic Annotation more info
response to light stimulus	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
response to zinc ion	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info

General protein information

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

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NCBI Reference Sequences (RefSeq)

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, ENST00000392492

Conserved Domains (1) summary

cl00357
Location:84 – 174
Blast Score: 107

NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
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/Swiss-Prot

Q16613

Related

ENSP00000250615, ENST00000250615

Conserved Domains (1) summary

cl00357
Location:129 – 219
Blast Score: 108

NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 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)

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Related Sequences

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	AC015802.21 (149283..151831)	None
genomic	AF360979.1	AAK49981.1
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

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q16613.1	GenPept	UniProtKB/Swiss-Prot:Q16613
Q9GZS4	GenPept	UniProtKB/TrEMBL:Q9GZS4
Q9H3S9	GenPept	UniProtKB/TrEMBL:Q9H3S9
Q9H3T0	GenPept	UniProtKB/TrEMBL:Q9H3T0
Q9H3T1	GenPept	UniProtKB/TrEMBL:Q9H3T1