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MGP000004

UniProt Annotations

Entry Information
Gene Namearalkylamine N-acetyltransferase
Protein EntrySNAT_HUMAN
UniProt IDQ16613
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16613-1; Sequence=Displayed; Name=2; IsoId=Q16613-2; Sequence=VSP_054108; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic 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};
Catalytic ActivityAcetyl-CoA + a 2-arylethylamine = CoA + an N- acetyl-2-arylethylamine.
DiseaseDelayed sleep phase syndrome (DSPS) [MIM:614163]: A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. {ECO:0000269|PubMed:12736803}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Susceptibility to delayed sleep phase syndrome can be conferred by variant Thr-129. Thr-129 shows a significantly higher frequency in affected individuals than in healthy controls.
FunctionControls 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.
PathwayAromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2.
PtmcAMP-dependent phosphorylation on both N-terminal Thr-31 and C-terminal Ser-205 regulates AANAT activity by promoting interaction with 14-3-3 proteins.
Sequence CautionSequence=AAH69434.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the acetyltransferase family. AANAT subfamily. {ECO:0000305}.
SimilarityContains 1 N-acetyltransferase domain. {ECO:0000255|PROSITE-ProRule:PRU00532}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:11313340}.
SubunitMonomer (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). {ECO:0000250}.
Tissue SpecificityHighly expressed in pineal gland and at lower levels in the retina. Weak expression in several brain regions and in the pituitary gland. {ECO:0000269|PubMed:18212399, ECO:0000269|PubMed:8661026}.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=AANAT";
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