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

Summary

Official Symbol: AANATprovided by HGNC
Official Full Name: aralkylamine N-acetyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:19
See related: Ensembl:ENSG00000129673 MIM:600950; AllianceGenome:HGNC:19
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76453351..76470117)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (77349434..77366693)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74449433..74466199)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of AANAT by c-Fos in tubular epithelial cells with membranous nephropathy.
Title: Downregulation of AANAT by c-Fos in tubular epithelial cells with membranous nephropathy.
[Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].", trans "Assotsiatsiya polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh fermenty sinteza melatonina, s riskom razvitiya psikhonevrologicheskikh rasstroistv.
Title: [Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].
Two SNPs of AANAT gene (rs8150 and rs3760138) associated with the risk of systemic lupus erythematosus.
Title: Association of Melatonin Pathway Gene's Single-Nucleotide Polymorphisms with Systemic Lupus Erythematosus in a Chinese Population.
Aggregate genetic variation in circadian rhythm and melatonin pathways were significantly associated with the risk of prostate cancer in data combining GAME-ON and PLCO, after Bonferroni correction (ppathway < 0.00625). The two most significant genes were NPAS2 (pgene = 0.0062) and AANAT (pgene = 0.00078); the latter being significant after Bonferroni correction.
Title: Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia.
Data show that arylalkymine N-acetyltransferase (AANAT) levels and melatonin synthesis change after transient receptor potential channel 4 (TRPV4 channel) stimulation in ciliary body epithelial cells.
Title: TRPV4 Stimulation Induced Melatonin Secretion by Increasing Arylalkymine N-acetyltransferase (AANAT) Protein Level.
these and related results indicate both a major involvement of the N-end rule pathway in the control of rodent AANATs and substantial differences in the regulation of rodent and human AANATs that stem from differences in their N-terminal sequences.
Title: Degradation of Serotonin N-Acetyltransferase, a Circadian Regulator, by the N-end Rule Pathway.
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.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AANAT_2920 (e-PCR)
- UniSTS:462001

NoName (e-PCR)
- UniSTS:490444

NoName (e-PCR)
- UniSTS:481506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IEA Inferred from Electronic Annotation more info
enables aralkylamine N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aralkylamine N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables aralkylamine N-acetyltransferase activity	TAS Traceable Author Statement more info
enables arylamine N-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in N-terminal protein amino acid acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in circadian rhythm	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in indolalkylamine biosynthetic process	TAS Traceable Author Statement more info
involved_in melatonin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in melatonin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in melatonin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in photoperiodism	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in response to corticosterone	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to prostaglandin E	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in 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: arylalkylamine N-acetyltransferase; serotonin acetylase

NP_001079.1

EC 2.3.1.87

NP_001160051.1

EC 2.3.1.87

XP_054171212.1

EC 2.3.1.87

XP_054171213.1

EC 2.3.1.87

XP_054171214.1

EC 2.3.1.87

XP_054171215.1

EC 2.3.1.87

XP_054171216.1

EC 2.3.1.87

XP_054171217.1

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

19253..21767

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001088.3 → NP_001079.1 serotonin N-acetyltransferase isoform 2

See identical proteins and their annotated locations for NP_001079.1

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/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5

Related

ENSP00000376282.2, ENST00000392492.8

Conserved Domains (1) summary

pfam00583
Location:47 → 173

Acetyltransf_1; Acetyltransferase (GNAT) family
NM_001166579.2 → NP_001160051.1 serotonin N-acetyltransferase isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AC015802, BC092430

Consensus CDS

CCDS54169.1

UniProtKB/Swiss-Prot

Q16613

Related

ENSP00000250615.2, ENST00000250615.7

Conserved Domains (1) summary

pfam00583
Location:130 → 219

Acetyltransf_1; Acetyltransferase (GNAT) family

RNA

NR_110548.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate exon in place of the first four exons and uses an alternate splice junction at the 5' end of an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA084486, AI819939, BC069434, BC143989, U40347

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

76453351..76470117

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

77349434..77366693

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315239.1 → XP_054171214.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5
XM_054315238.1 → XP_054171213.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5
XM_054315237.1 → XP_054171212.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5
XM_054315242.1 → XP_054171217.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5
XM_054315240.1 → XP_054171215.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5
XM_054315241.1 → XP_054171216.1 serotonin N-acetyltransferase isoform X1

UniProtKB/Swiss-Prot

A0AVF2, J3KMZ5, Q16613, Q562F4

UniProtKB/TrEMBL

F1T0I5