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

Gene ID: 15, updated on 27-Sep-2014
Official Symbol
AANATprovided by HGNC
Official Full Name
aralkylamine N-acetyltransferaseprovided by HGNC
Primary source
HGNC: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]
See AANAT in Epigenomics, MapViewer
Location:
17q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (76453351..76470117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74449433..74466199)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sphingosine kinase 1 Neighboring gene ubiquitin-conjugating enzyme E2O Neighboring gene ribosomal protein L7 pseudogene 49 Neighboring gene rhomboid 5 homolog 2 (Drosophila) Neighboring gene cytoglobin Neighboring gene progressive rod-cone degeneration

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IEA
Inferred from Electronic Annotation
more info
 
aralkylamine N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
aralkylamine N-acetyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
arylamine N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to light stimulus IEA
Inferred from Electronic Annotation
more info
 
response to prostaglandin E 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
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
serotonin N-acetyltransferase
Names
serotonin N-acetyltransferase
serotonin acetylase
arylalkylamine N-acetyltransferase
NP_001079.1
NP_001160051.1

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

  1. NG_015976.1 

    Range
    5001..21767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    F1T0I5
    UniProtKB/Swiss-Prot
    Q16613
    Related
    ENSP00000376282, OTTHUMP00000263544, ENST00000392492, OTTHUMT00000450130
    Conserved Domains (1) summary
    pfam00583
    Location:84174
    Acetyltransf_1; Acetyltransferase (GNAT) family
  2. NM_001166579.1NP_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, OTTHUMP00000263543, ENST00000250615, OTTHUMT00000450129
    Conserved Domains (1) summary
    pfam00583
    Location:129219
    Acetyltransf_1; Acetyltransferase (GNAT) family

RNA

  1. NR_110548.1 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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    76453351..76470117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    69877340..69894101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    74514431..74531198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)